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<title>
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- #232200 - GLYCOGEN STORAGE DISEASE Ia; GSD1A
- OMIM
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<span class="h4">#232200</span>
<br />
<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/232200"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS232200"> <strong>Phenotypic Series</strong> </a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#biochemicalFeatures">Biochemical Features</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#diagnosis">Diagnosis</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#clinicalManagement">Clinical Management</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#inheritance">Inheritance</a>
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<a href="#populationGenetics">Population Genetics</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=GLYCOGEN STORAGE DISEASE Ia" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=645&Typ=Pat" title="Glycogen storage disease due to glucose-6-phosphatase deficiency" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Glycogen storage disease d…&nbsp;</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=11284&Typ=Pat" title="Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Glycogen storage disease d…&nbsp;</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1312/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
<div><a href="https://www.diseaseinfosearch.org/x/3120" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=232200[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
<div><a href="#mimOrphanetFold" id="mimOrphanetToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="European reference portal for information on rare diseases and orphan drugs."><span id="mimOrphanetToggleTriangle" class="small" style="margin-left: -0.8em;">&#9658;</span>Orphanet</div>
<div id="mimOrphanetFold" class="collapse">
<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=364" title="Glycogen storage disease due to glucose-6-phosphatase deficiency" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Glycogen storage disease d…</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79258" title="Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Glycogen storage disease d…</a></div>
</div>
<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/5cd2140c-dc94-4b9e-a571-c2673a73074e/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></div>
</div>
</div>
</div>
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
<span class="panel-title">
<span class="small">
<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
<div style="display: table-row">
<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9658;</div>
&nbsp;
<div style="display: table-cell;">Animal Models</div>
</div>
</a>
</span>
</span>
</div>
<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="https://www.alliancegenome.org/disease/DOID:2749" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
<div><a href="http://www.informatics.jax.org/disease/232200" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
<div><a href="https://omia.org/OMIA000418/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
</div>
</div>
</div>
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
<span class="panel-title">
<span class="small">
<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
<div style="display: table-row">
<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9658;</div>
&nbsp;
<div style="display: table-cell;">Cell Lines</div>
</div>
</a>
</span>
</span>
</div>
<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="https://catalog.coriell.org/Search?q=OmimNum:232200" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
</div>
</div>
</div>
</div>
</div>
</div>
<span>
<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
&nbsp;
</span>
</span>
</div>
<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
<div>
<a id="title" class="mim-anchor"></a>
<div>
<a id="number" class="mim-anchor"></a>
<div class="text-right">
<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
<strong>SNOMEDCT:</strong> 444707001<br />
<strong>ORPHA:</strong> 364, 79258<br />
<strong>DO:</strong> 2749<br />
">ICD+</a>
</div>
<div>
<span class="h3">
<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
232200
</span>
</span>
</div>
</div>
<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
GLYCOGEN STORAGE DISEASE Ia; GSD1A
</span>
</h3>
</div>
<div>
<br />
</div>
<div>
<a id="alternativeTitles" class="mim-anchor"></a>
<div>
<p>
<span class="mim-font">
<em>Alternative titles; symbols</em>
</span>
</p>
</div>
<div>
<h4>
<span class="mim-font">
GSD Ia<br />
GLYCOGEN STORAGE DISEASE I; GSD1<br />
VON GIERKE DISEASE<br />
HEPATORENAL FORM OF GLYCOGEN STORAGE DISEASE<br />
GLUCOSE-6-PHOSPHATASE DEFICIENCY<br />
HEPATORENAL GLYCOGENOSIS
</span>
</h4>
</div>
</div>
<div>
<br />
</div>
</div>
<div>
<a id="phenotypeMap" class="mim-anchor"></a>
<h4>
<span class="mim-font">
<strong>Phenotype-Gene Relationships</strong>
</span>
</h4>
<div>
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
<thead>
<tr class="active">
<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
<th>
Gene/Locus
</th>
<th>
Gene/Locus <br /> MIM number
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/603?start=-3&limit=10&highlight=603">
17q21.31
</a>
</span>
</td>
<td>
<span class="mim-font">
Glycogen storage disease Ia
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/232200"> 232200 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
G6PC
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613742"> 613742 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<div class="btn-group ">
<a href="/clinicalSynopsis/232200" class="btn btn-warning" role="button"> Clinical Synopsis </a>
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
<span class="caret"></span>
<span class="sr-only">Toggle Dropdown</span>
</button>
</div>
&nbsp;
<div class="btn-group">
<a href="/phenotypicSeries/PS232200" class="btn btn-info" role="button"> Phenotypic Series </a>
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
<span class="caret"></span>
<span class="sr-only">Toggle Dropdown</span>
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</div>
&nbsp;
<div class="btn-group">
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
PheneGene Graphics <span class="caret"></span>
</button>
<ul class="dropdown-menu" style="width: 17em;">
<li><a href="/graph/linear/232200" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/232200" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
</ul>
</div>
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
<div>
<p />
</div>
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small" style="margin: 5px">
<div>
<div>
<span class="h5 mim-font">
<strong> INHERITANCE </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> GROWTH </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Height </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Short stature <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/422065006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">422065006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237836003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237836003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237837007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237837007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E34.31" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E34.31</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R62.52" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R62.52</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/783.43" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">783.43</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0349588&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0349588</a>, <a href="https://bioportal.bioontology.org/search?q=C0013336&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013336</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003510</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0004322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004322</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004322</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Other </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Delayed puberty <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/400003000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">400003000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/123526007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">123526007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E30.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E30.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0034012&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0034012</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000823" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000823</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000823" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000823</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> HEAD & NECK </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Face </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- 'Doll-like' facies <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856361&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856361</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000295" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000295</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Eyes </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Lipemia retinalis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95692001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95692001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0339477&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0339477</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000660" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000660</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000660" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000660</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> CARDIOVASCULAR </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Vascular </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Hypertension <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/38341003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">38341003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I10</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/401-405.99" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">401-405.99</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/997.91" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">997.91</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020538&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020538</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000822" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000822</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000822" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000822</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> ABDOMEN </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> External Features </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Protuberant abdomen <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854928&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854928</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001538" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001538</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001538" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001538</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Liver </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Liver adenomas <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/78058005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">78058005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/424263008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">424263008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1156419009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1156419009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0206669&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0206669</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012028" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012028</a>]</span><br /> -
Hepatocellular carcinoma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/109841003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">109841003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/187769009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">187769009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1186630006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1186630006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/25370001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">25370001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/C22.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">C22.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2239176&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2239176</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001402" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001402</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001402" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001402</a>]</span><br /> -
Hepatomegaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/80515008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">80515008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R16.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R16.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/789.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">789.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0019209&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0019209</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002240" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002240</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002240" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002240</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Pancreas </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Pancreatitis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/75694006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">75694006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K85.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K85.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0030305&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0030305</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001733" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001733</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001733" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001733</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Gastrointestinal </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Intermittent diarrhea <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0239181&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0239181</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002254" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002254</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002254" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002254</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> GENITOURINARY </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Kidneys </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Reduced creatinine clearance <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/863929001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">863929001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0853068&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0853068</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012213" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012213</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012213" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012213</a>]</span><br /> -
Focal segmental glomerulosclerosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/236403004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">236403004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/25821008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">25821008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0017668&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0017668</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000097" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000097</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000097" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000097</a>]</span><br /> -
Renal stones <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95570007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95570007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N20.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N20.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/592.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">592.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0392525&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0392525</a>, <a href="https://bioportal.bioontology.org/search?q=C0022650&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022650</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000787" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000787</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000787" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000787</a>]</span><br /> -
Renal enlargement <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/300444006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">300444006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0542518&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0542518</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000105" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000105</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000105" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000105</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> SKELETAL </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Osteoporosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/64859006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">64859006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Z82.62" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Z82.62</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M81.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M81.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/733.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">733.0</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/V17.81" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">V17.81</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/733.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">733.00</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2911643&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2911643</a>, <a href="https://bioportal.bioontology.org/search?q=C0029456&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0029456</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000939" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000939</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000939" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000939</a>]</span><br /> -
Gouty arthritis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/48440001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">48440001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/170733007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">170733007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/190828008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">190828008</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/274.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">274.00</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/274.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">274.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0003868&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003868</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001997" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001997</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001997" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001997</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> SKIN, NAILS, & HAIR </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Skin </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Xanthoma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/75594004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">75594004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/63103006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">63103006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0302314&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0302314</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001114" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001114</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001114" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001114</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MUSCLE, SOFT TISSUES </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Decreased muscle mass <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837108&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837108</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003199" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003199</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003199" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003199</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> METABOLIC FEATURES </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Hypoglycemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237630007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237630007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/271327008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">271327008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/302866003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">302866003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1179458001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1179458001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E16.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E16.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/251.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">251.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020615&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020615</a>, <a href="https://bioportal.bioontology.org/search?q=C5767385&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5767385</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001943" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001943</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001943" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001943</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> HEMATOLOGY </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Bleeding diathesis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/64779008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">64779008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/362970003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">362970003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/248250000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">248250000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D68.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D68.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/286" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">286</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0005779&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0005779</a>, <a href="https://bioportal.bioontology.org/search?q=C1458140&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1458140</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001892" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001892</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0003256" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003256</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001928" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001928</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001892" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001892</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> LABORATORY ABNORMALITIES </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Glucose-6-phosphate deficiency <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856381&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856381</a>]</span><br /> -
Hyperlipidemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/55822004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">55822004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/166816003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">166816003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/3744001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">3744001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E78.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E78.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0428465&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0428465</a>, <a href="https://bioportal.bioontology.org/search?q=C0020476&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020476</a>, <a href="https://bioportal.bioontology.org/search?q=C0020473&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020473</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010980" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010980</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0003077" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003077</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003077" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003077</a>]</span><br /> -
Hyperuricemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/35885006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">35885006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0740394&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0740394</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002149" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002149</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002149" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002149</a>]</span><br /> -
Lactic acidosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/91273001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">91273001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E87.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E87.20</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0001125&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0001125</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003128" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003128</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003128" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003128</a>]</span><br /> -
Hypoglycemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237630007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237630007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/271327008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">271327008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/302866003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">302866003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1179458001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1179458001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E16.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E16.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/251.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">251.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020615&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020615</a>, <a href="https://bioportal.bioontology.org/search?q=C5767385&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5767385</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001943" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001943</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001943" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001943</a>]</span><br /> -
Proteinuria <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/29738008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">29738008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/231860006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">231860006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R80.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R80.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R80" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R80</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/791.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">791.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1279888&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1279888</a>, <a href="https://bioportal.bioontology.org/search?q=C0033687&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0033687</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000093" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000093</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000093" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000093</a>]</span><br /> -
Liver transaminases normal to slightly increased <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856363&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856363</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MISCELLANEOUS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Often diagnosed between ages 3-4 months<br /> -
Early diagnosis and treatment prevent many complications<br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MOLECULAR BASIS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Caused by mutation in the glucose-6-phosphatase, catalytic gene (G6PC, <a href="/entry/613742#0001">613742.0001</a>)<br />
</span>
</div>
</div>
</div>
<div class="text-right">
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">&#9650;&nbsp;Close</a>
</div>
</div>
</div>
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small">
<div class="row">
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
<h5>
Glycogen storage disease
- <a href="/phenotypicSeries/PS232200">PS232200</a>
- 24 Entries
</h5>
</div>
</div>
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
<table class="table table-bordered table-condensed table-hover mim-table-padding">
<thead>
<tr>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Location</strong>
</th>
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
<strong>Phenotype</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Inheritance</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />mapping key</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />MIM number</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus<br />MIM number</strong>
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/681?start=-3&limit=10&highlight=681"> 1p31.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614921"> Congenital disorder of glycosylation, type It </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614921"> 614921 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/171900"> PGM1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/171900"> 171900 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/832?start=-3&limit=10&highlight=832"> 1p21.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/232400"> Glycogen storage disease IIIa </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/232400"> 232400 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610860"> AGL </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610860"> 610860 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/832?start=-3&limit=10&highlight=832"> 1p21.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/232400"> Glycogen storage disease IIIb </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/232400"> 232400 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610860"> AGL </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610860"> 610860 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/472?start=-3&limit=10&highlight=472"> 3p12.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/232500"> Glycogen storage disease IV </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/232500"> 232500 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607839"> GBE1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607839"> 607839 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/763?start=-3&limit=10&highlight=763"> 3q24 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613507"> ?Glycogen storage disease XV </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613507"> 613507 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603942"> GYG1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603942"> 603942 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/225?start=-3&limit=10&highlight=225"> 7p13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/261670"> Glycogen storage disease X </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/261670"> 261670 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612931"> PGAM2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612931"> 612931 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/840?start=-3&limit=10&highlight=840"> 7q36.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/261740"> Glycogen storage disease of heart, lethal congenital </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/261740"> 261740 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602743"> PRKAG2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602743"> 602743 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/223?start=-3&limit=10&highlight=223"> 11p15.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612933"> Glycogen storage disease XI </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612933"> 612933 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/150000"> LDHA </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/150000"> 150000 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/558?start=-3&limit=10&highlight=558"> 11q13.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/232600"> McArdle disease </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/232600"> 232600 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608455"> PYGM </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608455"> 608455 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/1001?start=-3&limit=10&highlight=1001"> 11q23.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/232240"> Glycogen storage disease Ic </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/232240"> 232240 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602671"> SLC37A4 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602671"> 602671 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/1001?start=-3&limit=10&highlight=1001"> 11q23.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/232220"> Glycogen storage disease Ib </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/232220"> 232220 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602671"> SLC37A4 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602671"> 602671 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/227?start=-3&limit=10&highlight=227"> 12p12.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/240600"> Glycogen storage disease 0, liver </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/240600"> 240600 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/138571"> GYS2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/138571"> 138571 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/327?start=-3&limit=10&highlight=327"> 12q13.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/232800"> Glycogen storage disease VII </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/232800"> 232800 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610681"> PFKM </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610681"> 610681 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/229?start=-3&limit=10&highlight=229"> 14q22.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/232700"> Glycogen storage disease VI </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/232700"> 232700 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613741"> PYGL </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613741"> 613741 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/342?start=-3&limit=10&highlight=342"> 16p11.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611881"> Glycogen storage disease XII </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611881"> 611881 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/103850"> ALDOA </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/103850"> 103850 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/364?start=-3&limit=10&highlight=364"> 16p11.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613027"> Glycogen storage disease IXc </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613027"> 613027 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/172471"> PHKG2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/172471"> 172471 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/414?start=-3&limit=10&highlight=414"> 16q12.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/261750"> Phosphorylase kinase deficiency of liver and muscle, autosomal recessive </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/261750"> 261750 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/172490"> PHKB </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/172490"> 172490 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/96?start=-3&limit=10&highlight=96"> 17p13.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612932"> Glycogen storage disease XIII </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612932"> 612932 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/131370"> ENO3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/131370"> 131370 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/603?start=-3&limit=10&highlight=603"> 17q21.31 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/232200"> Glycogen storage disease Ia </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/232200"> 232200 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613742"> G6PC </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613742"> 613742 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/1014?start=-3&limit=10&highlight=1014"> 17q25.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/232300"> Glycogen storage disease II </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/232300"> 232300 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606800"> GAA </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606800"> 606800 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/921?start=-3&limit=10&highlight=921"> 19q13.33 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611556"> Glycogen storage disease 0, muscle </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611556"> 611556 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/138570"> GYS1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/138570"> 138570 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/102?start=-3&limit=10&highlight=102"> Xp22.13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/306000"> Glycogen storage disease, type IXa2 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/306000"> 306000 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300798"> PHKA2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300798"> 300798 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/102?start=-3&limit=10&highlight=102"> Xp22.13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/306000"> Glycogen storage disease, type IXa1 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/306000"> 306000 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300798"> PHKA2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300798"> 300798 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/422?start=-3&limit=10&highlight=422"> Xq13.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300559"> Muscle glycogenosis </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300559"> 300559 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/311870"> PHKA1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/311870"> 311870 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
<div class="text-right small">
<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">&#9650;&nbsp;Close</a>
</div>
</div>
</div>
</div>
<div>
<br />
</div>
<div>
<a id="text" class="mim-anchor"></a>
<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon &lt;span class='glyphicon glyphicon-plus-sign'&gt;&lt;/span&gt at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
<strong>TEXT</strong>
</span>
</span>
</h4>
<div id="mimTextFold" class="collapse in ">
<span class="mim-text-font">
<p>A number sign (#) is used with this entry because glycogen storage disease Ia (GSD1A) is caused by homozygous or compound heterozygous mutation in the G6PC gene (<a href="/entry/613742">613742</a>), which encodes glucose-6-phosphatase (G6Pase), on chromosome 17q21.</p>
</span>
<div>
<br />
</div>
</div>
<div>
<a id="description" class="mim-anchor"></a>
<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Description</strong>
</span>
</h4>
</div>
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<p>Glycogen storage disease type I, also known as von Gierke disease, typically manifests during the first year of life with severe hypoglycemia and hepatomegaly caused by the accumulation of glycogen. Affected individuals exhibit growth retardation, delayed puberty, lactic acidemia, hyperlipidemia, hyperuricemia, and in adults a high incidence of hepatic adenomas (summary by <a href="#33" class="mim-tip-reference" title="Lei, K.-J., Shelly, L. L., Pan, C.-J., Sidbury, J. B., Chou, J. Y. &lt;strong&gt;Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a.&lt;/strong&gt; Science 262: 580-583, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8211187/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8211187&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1126/science.8211187&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8211187">Lei et al., 1993</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8211187" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>Clinical Features</strong>
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<p><a href="#3" class="mim-tip-reference" title="Burchell, A., Jung, R. T., Lang, C. C., Bennet, W., Shepherd, A. N. &lt;strong&gt;Diagnosis of type 1a and type 1c glycogen storage diseases in adults.&lt;/strong&gt; Lancet 329: 1059-1062, 1987. Note: Originally Volume I.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2883397/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2883397&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0140-6736(87)90484-3&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2883397">Burchell et al. (1987)</a> reported 2 women, aged 51 and 22 years, with partial GSD type Ia, and a 54-year-old man with complete GSD type Ia. The patient with complete type Ia had had unexplained hepatomegaly and a bleeding diathesis since the age of 7 years and gout since age 38. He had spider angiomas, xanthomas, gouty tophi, severe hypoglycemia, and compensated metabolic acidosis. The diagnosis was not made until he presented with hepatocellular carcinoma. The 2 patients with partial type Ia had low or absent blood-glucose response to glucagon. Their hypoglycemic symptoms occurred with exercise, suggesting that they were unable to respond by increasing their hepatic glucose production above a certain level. In both cases, symptoms resolved after the introduction of frequent meals high in cornstarch, a treatment proposed by <a href="#6" class="mim-tip-reference" title="Chen, Y.-T., Cornblath, M., Sidbury, J. B. &lt;strong&gt;Cornstarch therapy in type I glycogen-storage disease.&lt;/strong&gt; New Eng. J. Med. 310: 171-175, 1984.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6581385/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6581385&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1056/NEJM198401193100306&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="6581385">Chen et al. (1984)</a>. Of 2 sisters with type Ia GSD, both of whom had multiple hepatic adenomas, malignancy developed in 1 at the age of 20 years. AFP levels were normal throughout the entire course of this patient, whereas the younger sister had elevated levels despite the absence of malignant lesions. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2883397+6581385" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Chen, Y.-T., Coleman, R. A., Scheinman, J. I., Kolbeck, P. C., Sidbury, J. B. &lt;strong&gt;Renal disease in type I glycogen storage disease.&lt;/strong&gt; New Eng. J. Med. 318: 7-11, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3422104/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3422104&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1056/NEJM198801073180102&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3422104">Chen et al. (1988)</a> found that of the 38 patients with type I glycogen storage disease under their care, the 18 children under age 10 years had normal renal function. Fourteen of the 20 older patients (aged 13 to 47 years) had disturbed renal function manifested by persistent proteinuria; many also had hypertension, hematuria, or altered creatinine clearance. Progressive renal insufficiency developed in 6 of these 14 patients, leading to death from renal failure in 3. At the onset of proteinuria, creatinine clearance was increased in 7 patients. Renal biopsies performed after an average of 10 years of proteinuria demonstrated focal segmental glomerulosclerosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3422104" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In studies of 11 patients, <a href="#46" class="mim-tip-reference" title="Restaino, I., Kaplan, B. S., Stanley, C., Baker, L. &lt;strong&gt;Nephrolithiasis, hypocitraturia, and a distal renal tubular acidification defect in type 1 glycogen storage disease.&lt;/strong&gt; J. Pediat. 122: 392-396, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8441093/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8441093&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0022-3476(05)83422-5&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8441093">Restaino et al. (1993)</a> found that 5 had renal calculi, nephrocalcinosis or both, and 5 had hypercalciuria. All 9 who were tested had evidence of impaired acid excretion. <a href="#46" class="mim-tip-reference" title="Restaino, I., Kaplan, B. S., Stanley, C., Baker, L. &lt;strong&gt;Nephrolithiasis, hypocitraturia, and a distal renal tubular acidification defect in type 1 glycogen storage disease.&lt;/strong&gt; J. Pediat. 122: 392-396, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8441093/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8441093&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0022-3476(05)83422-5&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8441093">Restaino et al. (1993)</a> interpreted the findings as indicating the presence of an incomplete form of distal renal tubular acidosis, which may be the cause of hypercalciuria and nephrocalcinosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8441093" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#40" class="mim-tip-reference" title="Obara, K., Saito, T., Sato, H., Ogawa, M., Igarashi, Y., Yoshinaga, K. &lt;strong&gt;Renal histology in two adult patients with type I glycogen storage disease.&lt;/strong&gt; Clin. Nephrol. 39: 59-64, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8448918/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8448918&lt;/a&gt;]" pmid="8448918">Obara et al. (1993)</a> described the renal histology in 2 adult patients with type I glycogen storage disease, a 37-year-old woman and a 28-year-old man. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8448918" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#54" class="mim-tip-reference" title="Smit, G. P. A. &lt;strong&gt;The long-term outcome of patients with glycogen storage disease type Ia.&lt;/strong&gt; Europ. J. Pediat. 152 (suppl. 1): S52-S55, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8319726/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8319726&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF02072089&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8319726">Smit (1993)</a> studied retrospectively 41 patients over 10 years of age from 5 different European centers. Height was below the third percentile in 19. Hypoglycemia was still reported in 6. Hepatomegaly was present in 39 of the 40 and was marked in at least 11 of these. Adenomas were detected in 11 of 39 patients. Blood cholesterol concentration was elevated in 31 of 38 patients; blood triglycerides were elevated in 29 of 34 patients. Blood uric acid concentration was elevated in 19 of 35 patients, of whom 12 were being treated with allopurinol. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8319726" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#62" class="mim-tip-reference" title="Ullrich, K., Smit, G. P. A. &lt;strong&gt;Clinical aspects of glycogen storage disease type I: summary of the discussions.&lt;/strong&gt; Europ. J. Pediat. 152 (suppl. 1): S87-S88, 1993."None>Ullrich and Smit (1993)</a> reviewed the clinical aspects of type I GSD as discussed in a symposium. Pancreatitis in association with hypertriglyceridemia or severe metabolic acidosis was reported in isolated cases. No progression of hepatic adenoma after pregnancy was observed. A huge adenoma was successfully removed surgically in a female patient. The mechanism of renal hyperfiltration manifested by elevated glomerular filtration rate remained unclear. It had been found in children below the age of 1 year.</p><p>Liver adenomas are often present in GSD I (<a href="#20" class="mim-tip-reference" title="Howell, R. R., Stevenson, R. E., Ben-Menachem, Y., Phyliky, R. L., Berry, D. H. &lt;strong&gt;Hepatic adenomata with type I glycogen storage disease.&lt;/strong&gt; JAMA 236: 1481-1484, 1976.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/183026/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;183026&lt;/a&gt;]" pmid="183026">Howell et al., 1976</a>) and may undergo malignant transformation (<a href="#66" class="mim-tip-reference" title="Zangeneh, F., Limbeck, G. A., Brown, B. I., Emch, J. R., Arcasoy, M. M., Goldenberg, V. E., Kelley, V. C. &lt;strong&gt;Hepatorenal glycogenosis (type I glycogenosis) and carcinoma of the liver.&lt;/strong&gt; J. Pediat. 74: 73-83, 1969.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4302545/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;4302545&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0022-3476(69)80010-7&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="4302545">Zangeneh et al., 1969</a>). <a href="#57" class="mim-tip-reference" title="Stevenson, R. E., Ben-Menachem, Y., Dudrick, S., Howell, R. R. &lt;strong&gt;Hepatocellular carcinoma in type 1 glycogen storage disease.&lt;/strong&gt; Proc. Greenwood Genet. Center 3: 39-46, 1984."None>Stevenson et al. (1984)</a> described hepatocellular carcinoma developing in a 29-year-old man with GSD I who had been recognized 2 years before to have multiple liver adenomas. He was relatively asymptomatic in childhood and adolescence. His growth lagged behind that of his peers and puberty was delayed to age 17. He was active in competitive sports in high school, however, and was inducted into military service at age 27. <a href="#22" class="mim-tip-reference" title="Ito, E., Sato, Y., Kawauchi, K., Munakata, H., Kamata, Y., Yodono, H., Yokoyama, M. &lt;strong&gt;Type 1a glycogen storage disease with hepatoblastoma in siblings.&lt;/strong&gt; Cancer 59: 1776-1780, 1987. Note: Erratum: Cancer 60: 723 only, 1987.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3030527/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3030527&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/1097-0142(19870515)59:10&lt;1776::aid-cncr2820591016&gt;3.0.co;2-t&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3030527">Ito et al. (1987)</a> described sibs with GSD I and hepatoblastoma. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3030527+183026+4302545" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Bianchi, L. &lt;strong&gt;Glycogen storage disease I and hepatocellular tumours.&lt;/strong&gt; Europ. J. Pediat. 152 (suppl. 1): S63-S70, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8391447/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8391447&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF02072092&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8391447">Bianchi (1993)</a> found 50 published cases of hepatocellular adenoma in GSD I and 10 cases of hepatocellular carcinoma. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8391447" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#44" class="mim-tip-reference" title="Reitsma-Bierens, W. C. C. &lt;strong&gt;Renal complications in glycogen storage disease type I.&lt;/strong&gt; Europ. J. Pediat. 152 (suppl. 1): S60-S62, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8319728/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8319728&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF02072091&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8319728">Reitsma-Bierens (1993)</a> pointed out that adult patients may have chronic renal disease. Gout, nephropathy, and renal stones are not the only complications; after a period of 'silent' hyperfiltration, renal damage develops with proteinuria, hypertension and renal dysfunction. Biopsies of such patients show focal glomerulosclerosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8319728" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a multicenter study in the United States and Canada, <a href="#60" class="mim-tip-reference" title="Talente, G. M., Coleman, R. A., Alter, C., Baker, L., Brown, B. I., Cannon, R. A., Chen, Y.-T., Crigler, J. F., Jr., Ferreira, P., Haworth, J. C., Herman, G. E., Issenman, R. M., Keating, J. P., Linde, R., Roe, T. F., Senior, B., Wolfsdorf, J. I. &lt;strong&gt;Glycogen storage disease in adults.&lt;/strong&gt; Ann. Intern. Med. 120: 218-226, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8273986/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8273986&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.7326/0003-4819-120-3-199402010-00008&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8273986">Talente et al. (1994)</a> reviewed data from 37 patients with type Ia GSD, 5 patients with GSD type Ib (GSD1B; <a href="/entry/232220">232220</a>), and 9 patients with GSD type III (GSD3; <a href="/entry/232400">232400</a>), all of whom were 18 years of age or older. In the patients with GSD type Ia, problems included short stature (90%), hepatomegaly (100%), hepatic adenomas (75%), anemia (81%), proteinuria or microalbuminuria (67%), kidney calcifications (65%), osteopenia or fractures, or both (27%), increased alkaline phosphatase (61%) and gamma-glutamyltransferase (93%) activities, and increased serum cholesterol (76%) and triglyceride (100%) levels. Hyperuricemia was present in 89%. <a href="#60" class="mim-tip-reference" title="Talente, G. M., Coleman, R. A., Alter, C., Baker, L., Brown, B. I., Cannon, R. A., Chen, Y.-T., Crigler, J. F., Jr., Ferreira, P., Haworth, J. C., Herman, G. E., Issenman, R. M., Keating, J. P., Linde, R., Roe, T. F., Senior, B., Wolfsdorf, J. I. &lt;strong&gt;Glycogen storage disease in adults.&lt;/strong&gt; Ann. Intern. Med. 120: 218-226, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8273986/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8273986&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.7326/0003-4819-120-3-199402010-00008&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8273986">Talente et al. (1994)</a> suggested that the hyperuricemia and pyelonephritis should be treated to prevent nephrocalcinosis and additional renal damage. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8273986" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#42" class="mim-tip-reference" title="Pizzo, C. J. &lt;strong&gt;Type I glycogen storage disease with focal nodular hyperplasia of the liver and vasoconstrictive pulmonary hypertension.&lt;/strong&gt; Pediatrics 65: 341-343, 1980.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6928317/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6928317&lt;/a&gt;]" pmid="6928317">Pizzo (1980)</a> and <a href="#17" class="mim-tip-reference" title="Furukawa, N., Kinugasa, A., Inoue, F., Imashuku, S., Takamatsu, T., Sawada, T. &lt;strong&gt;Type I glycogen storage disease with vasoconstrictive pulmonary hypertension.&lt;/strong&gt; J. Inherit. Metab. Dis. 13: 102-107, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2109144/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2109144&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF01799337&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2109144">Furukawa et al. (1990)</a> described vasoconstrictive pulmonary hypertension associated with GSD I. In both patients there was no evidence of portal hypertension; both patients developed pulmonary hypertension in their second decade. <a href="#17" class="mim-tip-reference" title="Furukawa, N., Kinugasa, A., Inoue, F., Imashuku, S., Takamatsu, T., Sawada, T. &lt;strong&gt;Type I glycogen storage disease with vasoconstrictive pulmonary hypertension.&lt;/strong&gt; J. Inherit. Metab. Dis. 13: 102-107, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2109144/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2109144&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF01799337&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2109144">Furukawa et al. (1990)</a> suggested that this rare complication, if not a coincidence, could be due to response of the pulmonary vascular bed to a circulating agent that could not be removed or inactivated by the damaged liver, or alternatively to nocturnal oxygen desaturation caused by abnormal breathing during sleep. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6928317+2109144" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#37" class="mim-tip-reference" title="Michels, V. V., Beaudet, A. L. &lt;strong&gt;Hemorrhagic pancreatitis in a patient with glycogen storage disease type I.&lt;/strong&gt; Clin. Genet. 17: 220-222, 1980.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6928812/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6928812&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1980.tb00136.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="6928812">Michels and Beaudet (1980)</a> and <a href="#25" class="mim-tip-reference" title="Kikuchi, M., Hasegawa, K., Handa, I., Watabe, M., Narisawa, K., Tada, K. &lt;strong&gt;Chronic pancreatitis in a child with glycogen storage disease type 1.&lt;/strong&gt; Europ. J. Pediat. 150: 852-853, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1743219/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1743219&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF01955007&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1743219">Kikuchi et al. (1991)</a>, among others, reported chronic pancreatitis as a complication of the hyperlipidemia of this disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1743219+6928812" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#48" class="mim-tip-reference" title="Ryan, I. P., Havel, R. J., Laros, R. K., Jr. &lt;strong&gt;Three consecutive pregnancies in a patient with glycogen storage disease type IA (von Gierke&#x27;s disease).&lt;/strong&gt; Am. J. Obstet. Gynec. 170: 1687-1691, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8203427/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8203427&lt;/a&gt;]" pmid="8203427">Ryan et al. (1994)</a> described 3 successive pregnancies in a Chinese woman with GSD type Ia. The diagnosis had been made in childhood. At the age of 10 years, she was seen with hepatomegaly, renomegaly, anemia, fasting hypoglycemia, hyperuricemia, hypertriglyceridemia, frequent epistaxis, and prolonged bleeding time. An open liver biopsy revealed only trace amounts of glucose-6-phosphatase activities (1 to 2% of normal microsomal activity). She was started on a regimen of frequent day feedings, which maintained adequate nutritional support for growth and development. However, puberty was delayed, with menarche at age 14. When she was 23 years old, 2 liver masses consistent with hepatic adenomas were noted. Diet was augmented with nocturnal nasogastric feedings of Polycose (glucose polymers derived from controlled hydrolysis of cornstarch) at 90 gm/8 hours. This resulted in a reduction in total liver size but not in the size of the adenomas. The patient's first pregnancy, at age 29, ended in an unexpected fetal death at 33 weeks 5 days of gestation. At autopsy the fetus had no gross abnormalities that could explain the cause of death. An unrecognized hypoglycemic episode in the mother was suggested as a possibility. Two subsequent pregnancies were monitored in hospital after the thirty-third and thirty-fourth weeks, respectively. In the second pregnancy, cesarean section was performed at 35 weeks 4 days with delivery of a girl. A repeat cesarean section at 35 weeks 2 days was performed for the third pregnancy with delivery of a boy. Both infants were healthy and appeared to be unaffected by von Gierke disease. Hepatic adenomas did not enlarge during the pregnancies. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8203427" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#63" class="mim-tip-reference" title="Wang, D. Q., Carreras, C. T., Fiske, L. M., Austin, S., Boree, D., Kishnani, P. S., Weinstein, D. A. &lt;strong&gt;Characterization and pathogenesis of anemia in glycogen storage disease type Ia and Ib.&lt;/strong&gt; Genet. Med. 14: 795-799, 2012.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/22678084/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;22678084&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/gim.2012.41&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="22678084">Wang et al. (2012)</a> reported hematologic data and iron studies from 202 subjects (163 with GSDIa and 39 with GSDIb). Anemia was defined as hemoglobin concentration less than the 5th percentile for age and gender; severe anemia was defined as presence of a hemoglobin less than 10 g/dl. In GSDIa, 68 of 163 patients were anemic at their last follow-up. Preadolescent patients tended to have milder anemia secondary to iron deficiency, but anemia of chronic disease predominated in adults. Severe anemia was present in 8 of 163 patients, of whom 75% had hepatic adenomas. The anemia improved or resolved in all 10 subjects who underwent resection of liver lesions. Anemia was present in 72% of patients with GSDIb, and severe anemia occurred in 16 of 39 patients. Anemia in patients with GSDIb was associated with exacerbations of glycogen storage disease enterocolitis, and there was a significant correlation between C-reactive protein and hemoglobin levels (p = 0.036). <a href="#63" class="mim-tip-reference" title="Wang, D. Q., Carreras, C. T., Fiske, L. M., Austin, S., Boree, D., Kishnani, P. S., Weinstein, D. A. &lt;strong&gt;Characterization and pathogenesis of anemia in glycogen storage disease type Ia and Ib.&lt;/strong&gt; Genet. Med. 14: 795-799, 2012.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/22678084/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;22678084&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/gim.2012.41&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="22678084">Wang et al. (2012)</a> concluded that although anemia is common to both GSDIa and GSDIb, their pathophysiology appears to be different. Severe anemia in GSDIa is likely due to hepatic adenomas, whereas anemia in GSDIb is likely due to enterocolitis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22678084" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#38" class="mim-tip-reference" title="Minarich, L. A., Kirpich, A., Fiske, L. M., Weinstein, D. A. &lt;strong&gt;Bone mineral density in glycogen storage disease type Ia and Ib.&lt;/strong&gt; Genet. Med. 14: 737-741, 2012.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/22481133/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;22481133&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/gim.2012.36&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="22481133">Minarich et al. (2012)</a> studied bone mineral density in patients with GSDIa and Ib. In GSDIa, 23 of 42 patients (55%) had low bone mineral density, which tended to be associated with other disease complications (p = 0.02) and lower mean serum 25-hydroxyvitamin D concentration (p = 0.03). In patients with GSDIb, 8 of 12 (66.7%) had low bone mineral density. <a href="#38" class="mim-tip-reference" title="Minarich, L. A., Kirpich, A., Fiske, L. M., Weinstein, D. A. &lt;strong&gt;Bone mineral density in glycogen storage disease type Ia and Ib.&lt;/strong&gt; Genet. Med. 14: 737-741, 2012.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/22481133/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;22481133&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/gim.2012.36&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="22481133">Minarich et al. (2012)</a> did not detect an association with duration of granulocyte colony-stimulating factor therapy, mean triglyceride level, erythrocyte sedimentation rate, or 25-hydroxyvitamin D concentration, and there was no evidence that corticosteroid therapy was associated with lower bone mineral density. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22481133" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In patients with glycogen storage disease type Ia, serum triglyceride concentrations are markedly raised, whereas phospholipids and cholesterol levels are only moderately raised. In addition, both VLDL and LDL lipoprotein fractions are raised. Despite these abnormalities, endothelial vascular dysfunction and atherosclerosis seem to be rare in such patients. <a href="#61" class="mim-tip-reference" title="Trioche, P., Francoual, J., Capel, L., Odievre, M., Lindenbaum, A., Labrune, P. &lt;strong&gt;Apolipoprotein E polymorphism and serum concentrations in patients with glycogen storage disease type Ia.&lt;/strong&gt; J. Inherit. Metab. Dis. 23: 107-112, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10801051/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10801051&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1023/a:1005605513534&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10801051">Trioche et al. (2000)</a> studied both apoE (<a href="/entry/107741">107741</a>) polymorphism (40 patients) and serum concentration (20 patients) in patients with glycogen storage disease type Ia. The distribution of each allele at the apoE locus was similar to that reported in the general population, whereas serum apoE concentrations were raised in the GSD Ia patients. Mean apoE concentrations were 10.35 +/- 3.80 mg/dL versus 4.08 +/- 1.23 mg/dL in 65 age-matched normal controls. <a href="#61" class="mim-tip-reference" title="Trioche, P., Francoual, J., Capel, L., Odievre, M., Lindenbaum, A., Labrune, P. &lt;strong&gt;Apolipoprotein E polymorphism and serum concentrations in patients with glycogen storage disease type Ia.&lt;/strong&gt; J. Inherit. Metab. Dis. 23: 107-112, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10801051/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10801051&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1023/a:1005605513534&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10801051">Trioche et al. (2000)</a> postulated that the raised apoE levels in the serum could play an important role in counterbalancing the increased atherosclerosis risk associated with the lipid profile of patients with GSD Ia. <a href="#61" class="mim-tip-reference" title="Trioche, P., Francoual, J., Capel, L., Odievre, M., Lindenbaum, A., Labrune, P. &lt;strong&gt;Apolipoprotein E polymorphism and serum concentrations in patients with glycogen storage disease type Ia.&lt;/strong&gt; J. Inherit. Metab. Dis. 23: 107-112, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10801051/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10801051&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1023/a:1005605513534&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10801051">Trioche et al. (2000)</a> suggested that increased hepatic synthesis is the likely etiology of the increased levels of apoE. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10801051" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#52" class="mim-tip-reference" title="Seydewitz, H. H., Matern, D. &lt;strong&gt;Molecular genetic analysis of 40 patients with glycogen storage disease type Ia: 100% mutation detection rate and 5 novel mutations. (Abstract)&lt;/strong&gt; Hum. Mutat. 15: 115-116, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10612834/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10612834&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/(SICI)1098-1004(200001)15:1&lt;115::AID-HUMU23&gt;3.0.CO;2-W&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10612834">Seydewitz and Matern (2000)</a> achieved 100% mutation detection rate in a study of 40 patients with GSD Ia. They identified 5 novel mutations in the G6PC gene. The authors suggested that molecular genetic analysis is a reliable and convenient alternative to enzyme assay in fresh liver biopsy specimens for the diagnosis of GSD Ia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10612834" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#36" class="mim-tip-reference" title="Marcolongo, P., Banhegyi, G., Benedetti, A., Hinds, C. J., Burchell, A. &lt;strong&gt;Liver microsomal transport of glucose-6-phosphate, glucose, and phosphate in type 1 glycogen storage diseases.&lt;/strong&gt; J. Clin. Endocr. Metab. 83: 224-229, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9435446/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9435446&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1210/jcem.83.1.4519&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9435446">Marcolongo et al. (1998)</a> studied the transport of glucose-6-phosphate (G6P), glucose, and orthophosphate into liver microsomes isolated from 6 patients with various subtypes of GSD I using a light-scattering method. They found that G6P, glucose, and phosphate could all cross the microsomal membrane in 4 cases of GSD type Ia. In contrast, liver microsomal transport of G6P and phosphate was deficient in the GSD Ib (<a href="/entry/232220">232220</a>) and Ic (<a href="/entry/232240">232240</a>) patients, respectively. <a href="#36" class="mim-tip-reference" title="Marcolongo, P., Banhegyi, G., Benedetti, A., Hinds, C. J., Burchell, A. &lt;strong&gt;Liver microsomal transport of glucose-6-phosphate, glucose, and phosphate in type 1 glycogen storage diseases.&lt;/strong&gt; J. Clin. Endocr. Metab. 83: 224-229, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9435446/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9435446&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1210/jcem.83.1.4519&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9435446">Marcolongo et al. (1998)</a> stated that these results supported the involvement of multiple proteins (and genes) in GSD I. Since the results obtained with the light-scattering method were in accordance with conventional kinetic analysis of the microsomal glucose-6-phosphatase system, <a href="#36" class="mim-tip-reference" title="Marcolongo, P., Banhegyi, G., Benedetti, A., Hinds, C. J., Burchell, A. &lt;strong&gt;Liver microsomal transport of glucose-6-phosphate, glucose, and phosphate in type 1 glycogen storage diseases.&lt;/strong&gt; J. Clin. Endocr. Metab. 83: 224-229, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9435446/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9435446&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1210/jcem.83.1.4519&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9435446">Marcolongo et al. (1998)</a> suggested that this technique could be used to diagnose directly GSD types Ib and Ic. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9435446" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Prenatal Diagnosis</em></strong></p><p>
<a href="#43" class="mim-tip-reference" title="Qu, Y., Abdenur, J. E., Eng, C. M., Desnick, R. J. &lt;strong&gt;Molecular prenatal diagnosis of glycogen storage disease type Ia.&lt;/strong&gt; Prenatal Diag. 16: 333-336, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8734807/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8734807&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/(SICI)1097-0223(199604)16:4&lt;333::AID-PD861&gt;3.0.CO;2-G&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8734807">Qu et al. (1996)</a> performed prenatal diagnosis by chorionic villus sampling in an Ashkenazi Jewish family in which a previous child was homoallelic and both parents were heterozygous for the R83C mutation (<a href="/entry/613742#0002">613742.0002</a>) in the G6PC gene. Molecular analysis showed that the fetus was not affected. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8734807" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>Clinical Management</strong>
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<p><a href="#13" class="mim-tip-reference" title="Emmett, M., Narins, R. G. &lt;strong&gt;Renal transplantation in type I glycogenosis: failure to improve glucose metabolism.&lt;/strong&gt; JAMA 239: 1642-1644, 1978.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/204806/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;204806&lt;/a&gt;]" pmid="204806">Emmett and Narins (1978)</a> found no improvement with renal transplantation. However, <a href="#49" class="mim-tip-reference" title="Selby, R., Starzl, T. E., Yunis, E., Todo, S., Tzakis, A. G., Brown, B. I., Kendall, R. S. &lt;strong&gt;Liver transplantation for type I and type IV glycogen storage disease.&lt;/strong&gt; Europ. J. Pediat. 152 (suppl. 1): S71-S76, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8319729/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8319729&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=8319729[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF02072093&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8319729">Selby et al. (1993)</a> reported therapeutically successful orthotopic liver transplantation in a 16.5-year-old girl with GSD I. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=204806+8319729" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Chen, Y.-T., Cornblath, M., Sidbury, J. B. &lt;strong&gt;Cornstarch therapy in type I glycogen-storage disease.&lt;/strong&gt; New Eng. J. Med. 310: 171-175, 1984.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6581385/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6581385&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1056/NEJM198401193100306&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="6581385">Chen et al. (1984)</a> presented experience with raw cornstarch diet as a substitute for continuous nocturnal infusions as a measure to counteract hypoglycemia, which is the common denominator in the pathogenesis of the main manifestations of the disorder. In infants with low levels of pancreatic activity, the therapy was ineffective. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6581385" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Chen, Y.-T., Scheinman, J. I., Park, H. K., Coleman, R. A., Roe, C. R. &lt;strong&gt;Amelioration of proximal renal tubular dysfunction in type I glycogen storage disease with dietary therapy.&lt;/strong&gt; New Eng. J. Med. 323: 590-593, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2199830/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2199830&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1056/NEJM199008303230907&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2199830">Chen et al. (1990)</a> found that indicators of proximal renal tubular dysfunction improved in patients who were given dietary therapy such as total parenteral nutrition, nocturnal nasogastric infusion of glucose, or frequent oral administration of uncooked cornstarch. The indexes used were urinary excretion of amino acids, phosphate, and beta-2-microglobulin (<a href="/entry/109700">109700</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2199830" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 14 children with GSD Ia and GSD Ib who ranged in age from 4 to 16 years, <a href="#28" class="mim-tip-reference" title="Lee, P. J., Dixon, M. A., Leonard, J. V. &lt;strong&gt;Uncooked cornstarch--efficacy in type I glycogenosis.&lt;/strong&gt; Arch. Dis. Child. 74: 546-547, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8758135/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8758135&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/adc.74.6.546&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8758135">Lee et al. (1996)</a> found that the use of uncooked cornstarch achieved satisfactory glycemia lasting only a median of 4.25 hours (range 2.5 to 6). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8758135" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>The use of diazoxide in patients with GSD type Ia was first described by <a href="#45" class="mim-tip-reference" title="Rennert, O. M., Mukhopadhyay, D. &lt;strong&gt;Diazoxide in Von Gierke&#x27;s disease.&lt;/strong&gt; Arch. Dis. Child. 43: 358-361, 1968.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5240134/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;5240134&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/adc.43.229.358&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="5240134">Rennert and Mukhopadhyay (1968)</a> for improvement of glucose homeostasis. The treatment was abandoned because of skin rashes and later forgotten. Unaware of this early observation, <a href="#39" class="mim-tip-reference" title="Nuoffer, J. M., Mullis, P. E., Wiesmann, U. N. &lt;strong&gt;Treatment with low-dose diazoxide in two growth-retarded prepubertal girls with glycogen storage disease type Ia resulted in catch-up growth.&lt;/strong&gt; J. Inherit. Metab. Dis. 20: 790-798, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9427147/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9427147&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1023/a:1005319818015&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9427147">Nuoffer et al. (1997)</a> treated 2 originally prepubertal girls with GSD type Ia and short stature with low-dose diazoxide (3 to 4.8 mg/kg per day) for 7 and 4 years, respectively. Both showed an impressive catch-up growth. This appeared to be due to prolongation of normoglycemia after meals and reduction of fasting lactic acidosis by the drug. <a href="#39" class="mim-tip-reference" title="Nuoffer, J. M., Mullis, P. E., Wiesmann, U. N. &lt;strong&gt;Treatment with low-dose diazoxide in two growth-retarded prepubertal girls with glycogen storage disease type Ia resulted in catch-up growth.&lt;/strong&gt; J. Inherit. Metab. Dis. 20: 790-798, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9427147/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9427147&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1023/a:1005319818015&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9427147">Nuoffer et al. (1997)</a> speculated that blood lactic acidosis is a major cause of growth retardation in this disorder. The mode of action of diazoxide seems to be linked to K(+)-ATP channel activation. The resulting hyperpolarization of membranes decreases insulin release. The drug was given at the beginning of meals and before going to bed. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5240134+9427147" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#14" class="mim-tip-reference" title="Faivre, L., Houssin, D., Valayer, J., Brouard, J., Hadchouel, M., Bernard, O. &lt;strong&gt;Long-term outcome of liver transplantation in patients with glycogen storage disease type Ia.&lt;/strong&gt; J. Inherit. Metab. Dis. 22: 723-732, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10472532/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10472532&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1023/a:1005544117285&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10472532">Faivre et al. (1999)</a> reported 3 patients with GSD Ia in whom liver transplantation was performed at 15, 17, and 23 years of age because of multiple hepatic adenomas in all 3 patients with a fear of malignant transformation, and of poor metabolic balance and severe growth retardation in the youngest. Renal function was normal in all patients. During the 6 to 8 years following transplantation, the quality of life was initially greatly improved, with none of the previous dietary restraints and a spectacular increase in height. However, long-term complications included chronic hepatitis C in 1 patient, gouty attacks in another, and focal segmental glomerulosclerosis with progressive renal insufficiency in the third. The experience was taken to indicate that liver transplantation does not prevent focal segmental glomerulosclerosis associated with GSD Ia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10472532" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#64" class="mim-tip-reference" title="Weinstein, D. A., Somers, M. J. G., Wolfsdorf, J. I. &lt;strong&gt;Decreased urinary citrate excretion in type 1a glycogen storage disease.&lt;/strong&gt; J. Pediat. 138: 378-382, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11241046/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11241046&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1067/mpd.2001.111322&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11241046">Weinstein et al. (2001)</a> studied 15 patients with type Ia glycogen storage disease and found a strong inverse exponential relationship between age and citrate excretion. Urinary citrate excretion was unrelated to markers of metabolic control. Hypercalciuria occurred in 9 of 15 patients and was also inversely correlated with age. <a href="#64" class="mim-tip-reference" title="Weinstein, D. A., Somers, M. J. G., Wolfsdorf, J. I. &lt;strong&gt;Decreased urinary citrate excretion in type 1a glycogen storage disease.&lt;/strong&gt; J. Pediat. 138: 378-382, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11241046/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11241046&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1067/mpd.2001.111322&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11241046">Weinstein et al. (2001)</a> concluded that hypocitraturia that worsens with age occurs in metabolically compensated patients with GSD Ia. The combination of low citrate excretion and hypercalciuria appears to be important in the pathogenesis of nephrocalcinosis and nephrolithiasis. <a href="#64" class="mim-tip-reference" title="Weinstein, D. A., Somers, M. J. G., Wolfsdorf, J. I. &lt;strong&gt;Decreased urinary citrate excretion in type 1a glycogen storage disease.&lt;/strong&gt; J. Pediat. 138: 378-382, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11241046/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11241046&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1067/mpd.2001.111322&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11241046">Weinstein et al. (2001)</a> suggested that citrate supplementation may be beneficial in preventing or ameliorating nephrocalcinosis and the development of urinary calculi in GSD Ia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11241046" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#65" class="mim-tip-reference" title="Wierzbicki, A. S., Watts, G. F., Lynas, J., Winder, A. F., Wray, R. &lt;strong&gt;Very low-density lipoprotein apolipoprotein B-100 turnover in glycogen storage disease type Ia (von Gierke disease).&lt;/strong&gt; J. Inherit. Metab. Dis. 24: 527-534, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11757580/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11757580&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1023/a:1012407609063&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11757580">Wierzbicki et al. (2001)</a> investigated the apoB turnover in GSD Ia using an exogenous labeling method in 1 sib from a kinship with established GSD Ia. Their study demonstrated normal hepatic secretion of VLDL, but hypocatabolism of VLDL, probably due to lack of lipoprotein lipase activity. The production rate of intermediate density lipoprotein (IDL) was slightly increased, but the turnover rate of LDL was normal. <a href="#65" class="mim-tip-reference" title="Wierzbicki, A. S., Watts, G. F., Lynas, J., Winder, A. F., Wray, R. &lt;strong&gt;Very low-density lipoprotein apolipoprotein B-100 turnover in glycogen storage disease type Ia (von Gierke disease).&lt;/strong&gt; J. Inherit. Metab. Dis. 24: 527-534, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11757580/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11757580&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1023/a:1012407609063&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11757580">Wierzbicki et al. (2001)</a> suggested that in addition to cornstarch diet and fat restriction, treatment of severe mixed hyperlipidemia in GSD Ia should possibly involve fibrates that activate lipoprotein lipase and may enhance the clearance of IDL, rather than omega-3 fatty acids, which principally suppress hepatic secretion of VLDL. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11757580" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#47" class="mim-tip-reference" title="Rousseau-Nepton, I., Huot, C., Laforte, D., Mok, E., Fenyves, D., Constantin, E., Mitchell, J. &lt;strong&gt;Sleep and quality of life of patients with glycogen storage disease on standard and modified uncooked cornstarch.&lt;/strong&gt; Molec. Genet. Metab. 123: 326-330, 2018.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/29223626/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;29223626&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ymgme.2017.09.003&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="29223626">Rousseau-Nepton et al. (2018)</a> used Glycosade in place of uncooked cornstarch to manage overnight fasting in 9 adults with GSD1A and found that the average duration of fasting increased from 4 to 8 hours, without hypoglycemic events. They also found that sleep quality, as assessed by the Pittsburgh Sleep Quality Index (PSQI) questionnaire, was significantly improved, whereas no change was detected on sleep diary, actigraphy, or quality of life assessments. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29223626" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="inheritance" class="mim-anchor"></a>
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<p>Glycogen storage disease Ia is an autosomal recessive disorder (<a href="#33" class="mim-tip-reference" title="Lei, K.-J., Shelly, L. L., Pan, C.-J., Sidbury, J. B., Chou, J. Y. &lt;strong&gt;Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a.&lt;/strong&gt; Science 262: 580-583, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8211187/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8211187&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1126/science.8211187&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8211187">Lei et al., 1993</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8211187" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#33" class="mim-tip-reference" title="Lei, K.-J., Shelly, L. L., Pan, C.-J., Sidbury, J. B., Chou, J. Y. &lt;strong&gt;Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a.&lt;/strong&gt; Science 262: 580-583, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8211187/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8211187&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1126/science.8211187&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8211187">Lei et al. (1993)</a> stated that glycogen storage disease Ia has an incidence of 1 in 100,000 to 300,000. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8211187" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#12" class="mim-tip-reference" title="Ekstein, J., Rubin, B. Y., Anderson, S. L., Weinstein, D. A., Bach, G., Abeliovich, D., Webb, M., Risch, N. &lt;strong&gt;Mutation frequencies for glycogen storage disease Ia in the Ashkenazi Jewish population.&lt;/strong&gt; Am. J. Med. Genet. 129A: 162-164, 2004.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15316959/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;15316959&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.30232&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="15316959">Ekstein et al. (2004)</a> found that the prevalence of GSD Ia in the Ashkenazi Jewish population is 1 in 20,000, 5 times higher than that for the general Caucasian population. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15316959" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In 2 patients with glycogen storage disease Ia, <a href="#33" class="mim-tip-reference" title="Lei, K.-J., Shelly, L. L., Pan, C.-J., Sidbury, J. B., Chou, J. Y. &lt;strong&gt;Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a.&lt;/strong&gt; Science 262: 580-583, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8211187/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8211187&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1126/science.8211187&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8211187">Lei et al. (1993)</a> identified homozygous and compound heterozygous mutations, respectively, in the G6PC gene (<a href="/entry/613742#0001">613742.0001</a>-<a href="/entry/613742#0003">613742.0003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8211187" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#30" class="mim-tip-reference" title="Lei, K.-J., Chen, Y.-T., Chen, H., Wong, L.-J. C., Liu, J.-L., McConkie-Rosell, A., Van Hove, J. L. K., Ou, H. C.-Y., Yeh, N. J., Pan, L. Y., Chou, J. Y. &lt;strong&gt;Genetic basis of glycogen storage disease type 1a: prevalent mutations at the glucose-6-phosphatase locus.&lt;/strong&gt; Am. J. Hum. Genet. 57: 766-771, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7573034/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7573034&lt;/a&gt;]" pmid="7573034">Lei et al. (1995)</a> used SSCP analysis and DNA sequencing to characterize the G6PC gene of 70 unrelated patients with enzymatically confirmed diagnosis of type Ia GSD and detected mutations in all except 17 alleles (88%). They uncovered 16 mutations that were shown by expression to abolish or greatly reduce G6Pase activity and that, therefore, were responsible for the clinical disorder. R83C (<a href="/entry/613742#0002">613742.0002</a>) and Q347X (<a href="/entry/613742#0004">613742.0004</a>) were the most prevalent mutations found in Caucasians; 130X (<a href="/entry/613742#0001">613742.0001</a>) and R83C were most prevalent in Hispanics; R83H was most prevalent in Chinese. The Q347X mutation was identified only in Caucasians, and the 130X mutation was identified only in Hispanic patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7573034" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>A form of GDS Ia, designated GSD IaSP and described in 1 patient by <a href="#4" class="mim-tip-reference" title="Burchell, A., Waddell, I. D. &lt;strong&gt;Diagnosis of a novel glycogen storage disease: type 1aSP.&lt;/strong&gt; J. Inherit. Metab. Dis. 13: 247-249, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2172641/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2172641&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF01799362&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2172641">Burchell and Waddell (1990)</a>, was proposed to be caused by a defect in a 21-kD stabilizing protein, SP, purified on the basis of its ability to stabilize the G6Pase catalytic unit in vitro. <a href="#32" class="mim-tip-reference" title="Lei, K.-J., Shelly, L. L., Lin, B., Sidbury, J. B., Chen, Y.-T., Nordlie, R. C., Chou, J. Y. &lt;strong&gt;Mutations in the glucose-6-phosphatase gene are associated with glycogen storage disease types 1a and 1aSP but not 1b and 1c.&lt;/strong&gt; J. Clin. Invest. 95: 234-240, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7814621/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7814621&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1172/JCI117645&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7814621">Lei et al. (1995)</a> demonstrated a mutation in exon 2 of the G6PC gene that converted an arg at codon 83 to a cys (R83C) in both alleles of the type IaSP patient. The R83C mutation (<a href="/entry/613742#0002">613742.0002</a>) was also demonstrated in homozygous form in 1 and heterozygous form in 5 GSD type Ia patients, indicating that so-called type IaSP is a misclassification of GSD type Ia. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7814621+2172641" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#23" class="mim-tip-reference" title="Kajihara, S., Matsuhashi, S., Yamamoto, K., Kido, K., Tsuji, K., Tanae, A., Fujiyama, S., Itoh, T., Tanigawa, K., Uchida, M., Setoguchi, Y., Motomura, M., Mizuta, T., Sakai, T. &lt;strong&gt;Exon redefinition by a point mutation within exon 5 of the glucose-6-phosphatase gene is the major cause of glycogen storage disease type 1a in Japan.&lt;/strong&gt; Am. J. Hum. Genet. 57: 549-555, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7668282/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7668282&lt;/a&gt;]" pmid="7668282">Kajihara et al. (1995)</a> identified a splice mutation in exon 5 (727G-T) of the G6PC cDNA from the liver of a Japanese patient with GSD type Ia (<a href="/entry/613742#0005">613742.0005</a>). Another 8 unrelated Japanese families with a total of 9 affected individuals were found to have the same mutation, thus representing 91% of patients and carriers of GSD Ia in Japan. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7668282" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="Chevalier-Porst, F., Bozon, D., Bonardot, A.-M., Bruni, N., Mithieux, G., Mathieu, M., Maire, I. &lt;strong&gt;Mutation analysis in 24 French patients with glycogen storage disease type 1a.&lt;/strong&gt; J. Med. Genet. 33: 358-360, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8733042/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8733042&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.33.5.358&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8733042">Chevalier-Porst et al. (1996)</a> sequenced both alleles of 24 French GSD type Ia patients; 14 different mutations were found, allowing the identification of complete genotypes for all the patients. These included 9 new mutations. Five mutations, Q347X, R83C, D38V (<a href="/entry/613742#0006">613742.0006</a>), G188R (<a href="/entry/613742#0012">613742.0012</a>), and 158Cdel, accounted for 75% of the mutated alleles. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8733042" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#41" class="mim-tip-reference" title="Parvari, R., Lei, K.-J., Bashan, N., Hershkovitz, E., Korman, S. H., Barash, V., Lerman-Sagie, T., Mandel, H., Chou, J. Y., Moses, S. W. &lt;strong&gt;Glycogen storage disease type 1a in Israel: biochemical, clinical, and mutational studies.&lt;/strong&gt; Am. J. Med. Genet. 72: 286-290, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9332655/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9332655&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/(sici)1096-8628(19971031)72:3&lt;286::aid-ajmg6&gt;3.0.co;2-p&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9332655">Parvari et al. (1997)</a> reported the biochemical and clinical characteristics as well as mutational analyses of 12 Israeli GSD Ia patients of different families, who represent most of the GSD Ia patients in Israel. All 9 Jewish patients, as well as a Muslim Arab patient, were found to have the R83C mutation (<a href="/entry/613742#0002">613742.0002</a>). Two Muslim Arab patients had the val166-to-gly (V166G) mutation (<a href="/entry/613742#0014">613742.0014</a>), which had not been found in other populations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9332655" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Akanuma, J., Nishigaki, T., Fujii, K., Matsubara, Y., Inui, K., Takahashi, K., Kure, S., Suzuki, Y., Ohura, T., Miyabayashi, S., Ogawa, E., Iinuma, K., Okada, S., Narisawa, K. &lt;strong&gt;Glycogen storage disease type Ia: molecular diagnosis of 51 Japanese patients and characterization of splicing mutations by analysis of ectopically transcribed mRNA from lymphoblastoid cells.&lt;/strong&gt; Am. J. Med. Genet. 91: 107-112, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10748407/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10748407&lt;/a&gt;]" pmid="10748407">Akanuma et al. (2000)</a> identified G6PC mutations in all alleles from 51 unrelated Japanese patients with GSD Ia. A total of 7 mutations were identified, including 3 novel mutations. The most prevalent mutation, 727G-T, accounting for 88 of 102 mutant alleles, creates an aberrant 3-prime splice site within exon 5. The authors demonstrated that ectopically transcribed G6Pase mRNA can be detected in lymphoblastoid cells and may be used for the characterization of mutations that affect mRNA splicing. They concluded that noninvasive molecular diagnosis may ultimately replace the conventional method of enzymatic diagnosis that requires liver biopsy in Japanese patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10748407" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#58" class="mim-tip-reference" title="Stroppiano, M., Regis, S., DiRocco, M., Caroli, F., Gandullia, P., Gatti, R. &lt;strong&gt;Mutations in the glucose-6-phosphatase gene of 53 Italian patients with glycogen storage disease type Ia.&lt;/strong&gt; J. Inherit. Metab. Dis. 22: 43-49, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10070617/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10070617&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1023/a:1005495131118&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10070617">Stroppiano et al. (1999)</a> analyzed the G6Pase gene in 53 unrelated Italian patients and identified 88 mutant alleles (82.6%) with 18 (17.4%) remaining unidentified. The most prevalent mutation was R83C (46.2%), followed by Q347X (20.7%); 3 other mutations (R295C, D38V, and G270V) accounted for 5.6% of disease alleles. The authors suggested that noninvasive screening could be used in Italian patients clinically suspected of having GSD Ia, particularly in those from Sicily, where the R83C mutation was present in 80% of mutant alleles. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10070617" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In all of 13 unrelated Korean patients with GSD Ia, <a href="#24" class="mim-tip-reference" title="Ki, C.-S., Han, S.-H., Kim, H.-J., Lee, S.-G., Kim, E.-J., Kim, J.-W., Choe, Y. H., Seo, J. K., Chang, Y. J., Park, J. Y. &lt;strong&gt;Mutation spectrum of the glucose-6-phosphatase gene and its implication in molecular diagnosis of Korean patients with glycogen storage disease type Ia.&lt;/strong&gt; Clin. Genet. 65: 487-489, 2004.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15151508/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;15151508&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.2004.00260.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="15151508">Ki et al. (2004)</a> identified mutant alleles of the G6PC gene. Three known mutations and 2 novel mutations were identified. The most frequent mutant allele was 727G-T, present in 21 of 26 alleles (81%), which was slightly lower than that in Japanese, where it was present in 86 alleles (92%), but much higher than that in Taiwan Chinese (present in 44.4% of alleles). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15151508" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Hepatocellular adenoma is a frequent long-term complication of glycogen storage disease type I, and malignant transformation to hepatocellular carcinoma (HCC; see <a href="/entry/114550">114550</a>) occurs in some cases. <a href="#26" class="mim-tip-reference" title="Kishnani, P. S., Chuang, T.-P., Bali, D., Koeberl, D., Austin, S., Weinstein, D. A., Murphy, E., Chen, Y.-T., Boyette, K., Liu, C.-H., Chen, Y.-T., Li, L.-H. &lt;strong&gt;Chromosomal and genetic alterations in human hepatocellular adenomas associated with type Ia glycogen storage disease.&lt;/strong&gt; Hum. Molec. Genet. 18: 4781-4790, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19762333/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;19762333&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/ddp441&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="19762333">Kishnani et al. (2009)</a> performed genomewide SNP analysis and mutation detection of target genes in 10 GSD Ia-associated HCA and 7 general population HCA cases. Chromosomal aberrations were detected in 60% of the GSD Ia HCA and 57% of general population HCA. Coincident gain of chromosome 6p and loss of 6q were seen only in GSD Ia HCA (3 cases), with 1 additional GSD I patient showing submicroscopic 6q14.1 deletion. The sizes of GSD Ia adenomas with chromosome 6 aberrations were larger than the sizes of adenomas without the changes (p = 0.012). Expression of IGF2R (FCGR2A; <a href="/entry/146790">146790</a>) and LATS1 (<a href="/entry/603473">603473</a>) candidate tumor suppressor genes at 6q was reduced in more than 50% of 7 GSD Ia HCA examined. None of the GSD Ia HCA had biallelic mutations in the HNF1A (<a href="/entry/142410">142410</a>) gene. The authors suggested that chromosome 6 alterations could be an early event in the liver tumorigenesis in GSD I, and possibly in the general population. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19762333" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Reviews</em></strong></p><p>
<a href="#9" class="mim-tip-reference" title="Chou, J. Y., Mansfield, B. C. &lt;strong&gt;Molecular genetics of type 1 glycogen storage diseases.&lt;/strong&gt; Trends Endocr. Metab. 10: 104-113, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10322403/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10322403&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s1043-2760(98)00123-4&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10322403">Chou and Mansfield (1999)</a> reviewed the molecular genetics of type I glycogen storage diseases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10322403" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#29" class="mim-tip-reference" title="Lei, K.-J., Chen, H., Pan, C.-J., Ward, J. M., Mosinger, B., Jr., Lee, E. J., Westphal, H., Mansfield, B. C., Chou, J. Y. &lt;strong&gt;Glucose-6-phosphatase dependent substrate transport in the glycogen storage disease type-1a mouse.&lt;/strong&gt; Nature Genet. 13: 203-209, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8640227/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8640227&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng0696-203&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8640227">Lei et al. (1996)</a> created a G6Pase knockout mouse that mimics the pathophysiology of human GSD Ia patients. In the knockout mouse, both the GTPase enzymatic activity and the glucose-6-P transport activity were destroyed. By examining G6Pase in liver and kidney, the primary gluconeogenic tissues, they demonstrated that glucose-6-P transport and hydrolysis are performed by separate proteins that are tightly coupled. They proposed a modified translocase catalytic unit model for G6Pase catalysis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8640227" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using neonatal G6Pase-deficient mice, <a href="#59" class="mim-tip-reference" title="Sun, M.-S., Pan, C.-J., Shieh, J.-J., Ghosh, A., Chen, L.-Y., Mansfield, B. C., Ward, J. M., Byrne, B. J., Chou, J. Y. &lt;strong&gt;Sustained hepatic and renal glucose-6-phosphatase expression corrects glycogen storage disease type Ia in mice.&lt;/strong&gt; Hum. Molec. Genet. 11: 2155-2164, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12189168/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12189168&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/11.18.2155&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12189168">Sun et al. (2002)</a> demonstrated that a combined adenovirus and adeno-associated virus vector-mediated gene transfer led to sustained G6Pase expression in both the liver and the kidney, and corrected the murine GSD Ia disease for at least 12 months. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12189168" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#27" class="mim-tip-reference" title="Lam, T. K. T., Gutierrez-Juarez, R., Pocai, A., Rossetti, L. &lt;strong&gt;Regulation of blood glucose by hypothalamic pyruvate metabolism.&lt;/strong&gt; Science 309: 943-947, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16081739/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;16081739&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1126/science.1112085&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="16081739">Lam et al. (2005)</a> reported that a primary increase in hypothalamic glucose levels in rats lowers blood glucose by inhibition of liver glucose production, due to inhibition of glucose-6-phosphatase. The effect of glucose requires its conversion to lactate followed by stimulation of pyruvate metabolism, which leads to activation of ATP-sensitive potassium channels. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16081739" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>Demonstration of the deficiency of glucose-6-phosphatase in type I glycogen storage disease by <a href="#11" class="mim-tip-reference" title="Cori, G. T., Cori, C. F. &lt;strong&gt;Glucose-6-phosphatase of the liver in glycogen storage disease.&lt;/strong&gt; J. Biol. Chem. 199: 661-667, 1952.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/13022673/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;13022673&lt;/a&gt;]" pmid="13022673">Cori and Cori (1952)</a> is often pointed to as the first specific enzymopathy identified in a hereditary disorder. Although it was perhaps the first disorder characterized that can be viewed as a true garrodian inborn error of metabolism, enzyme deficiency was identified earlier in methemoglobinemia (<a href="/entry/250800">250800</a>) by <a href="#18" class="mim-tip-reference" title="Gibson, Q. H. &lt;strong&gt;The reduction of methaemoglobin in red blood cells and studies on the cause of idiopathic methaemoglobinaemia.&lt;/strong&gt; Biochem. J. 42: 13-23, 1948.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16748235/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;16748235&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1042/bj0420013&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="16748235">Gibson (1948)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=13022673+16748235" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#50" class="mim-tip-reference" title="Senior, B., Loridan, L. &lt;strong&gt;Functional differentiation of glycogenoses of the liver with respect to the use of glycerol.&lt;/strong&gt; New Eng. J. Med. 279: 965-970, 1968.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4300573/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;4300573&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1056/NEJM196810312791803&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="4300573">Senior and Loridan (1968)</a> found that the effects of glycerol administered by mouth on levels of glucose and of lactate, together with the response to epinephrine or glucagon, permitted differentiation of the several types of hepatic glycogenosis (I, II, III and IV). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4300573" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#Cohen1985" class="mim-tip-reference" title="Cohen, J. L., Vinik, A., Faller, J., Fox, I. H. &lt;strong&gt;Hyperuricemia in glycogen storage disease type I: contributions by hypoglycemia and hyperglucagonemia to increased urate production.&lt;/strong&gt; J. Clin. Invest. 75: 251-257, 1985.">Cohen et al. (1985)</a>; <a href="#Fine1968" class="mim-tip-reference" title="Fine, R. N., Wilson, W. A., Donnell, G. N. &lt;strong&gt;Retinal changes in glycogen storage disease type I.&lt;/strong&gt; Am. J. Dis. Child. 115: 328-331, 1968.">Fine et al. (1968)</a>; <a href="#Fraumeni1969" class="mim-tip-reference" title="Fraumeni, J. F., Rosen, P. J., Hull, E. W., Barth, R. F., Shapiro, S. R., O&#x27;Connor, J. F. &lt;strong&gt;Hepatoblastoma in infant sisters.&lt;/strong&gt; Cancer 24: 1086-1090, 1969.">Fraumeni et al. (1969)</a>; <a href="#Greene1976" class="mim-tip-reference" title="Greene, H. L., Slonim, A. E., O&#x27;Neill, J. A., Jr., Burr, I. M. &lt;strong&gt;Continuous nocturnal intragastric feeding for management of type 1 glycogen-storage disease.&lt;/strong&gt; New Eng. J. Med. 294: 423-425, 1976.">Greene et al. (1976)</a>; <a href="#Howell1965" class="mim-tip-reference" title="Howell, R. R. &lt;strong&gt;The interrelationship of glycogen storage disease and gout.&lt;/strong&gt; Arthritis Rheum. 8: 780-785, 1965.">Howell (1965)</a>; <a href="#Lei1994" class="mim-tip-reference" title="Lei, K.-J., Pan, C.-J., Shelly, L. L., Liu, J.-L., Chou, J. Y. &lt;strong&gt;Identification of mutations in the gene for glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1A.&lt;/strong&gt; J. Clin. Invest. 93: 1994-1999, 1994.">Lei et al. (1994)</a>; <a href="#Limmer1988" class="mim-tip-reference" title="Limmer, J., Fleig, W. E., Leupold, D., Bittner, R., Ditschuneit, H., Beger, H.-G. &lt;strong&gt;Hepatocellular carcinoma in type I glycogen storage disease.&lt;/strong&gt; Hepatology 8: 531-537, 1988.">Limmer et al.
(1988)</a>; <a href="#Malatack1983" class="mim-tip-reference" title="Malatack, J. J., Finegold, D. N., Iwatsuki, S., Shaw, B. W., Jr., Gartner, J. C., Zitelli, B. J., Roe, T., Starzl, T. E. &lt;strong&gt;Liver transplantation for type I glycogen storage disease.&lt;/strong&gt; Lancet 321: 1073-1075, 1983. Note: Originally Volume I.">Malatack et al. (1983)</a>; <a href="#Senior1968" class="mim-tip-reference" title="Senior, B., Loridan, L. &lt;strong&gt;Liver glycogenoses: metabolism of intravenously administered glycerol.&lt;/strong&gt; New Eng. J. Med. 279: 958-965, 1968.">Senior and Loridan (1968)</a>; <a href="#Sidbury1965" class="mim-tip-reference" title="Sidbury, J. B., Jr. &lt;strong&gt;The genetics of the glycogen storage disease. In: Steinberg, A. G.; Bearn, A. G. (eds.): Progress in Medical Genetics. Vol. 4.&lt;/strong&gt; New York: Grune and Stratton (pub.) 1965. Pp. 32-58.">Sidbury
(1965)</a>; <a href="#Spencer-Peet1971" class="mim-tip-reference" title="Spencer-Peet, J., Norman, M. E., Lake, B. D., McNamara, J., Patrick, A. D. &lt;strong&gt;Hepatic glycogen storage disease. Clinical and laboratory findings in 23 cases.&lt;/strong&gt; Quart. J. Med. 40: 95-114, 1971.">Spencer-Peet et al. (1971)</a>; <a href="#Stamm1975" class="mim-tip-reference" title="Stamm, W. E., Webb, D. I. &lt;strong&gt;Partial deficiency of hepatic glucose-6-phosphatase in an adult patient.&lt;/strong&gt; Arch. Intern. Med. 135: 1107-1109, 1975.">Stamm and Webb (1975)</a>
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<a id="references"class="mim-anchor"></a>
<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span class="mim-font">
<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<strong>REFERENCES</strong>
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</h4>
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Akanuma, J., Nishigaki, T., Fujii, K., Matsubara, Y., Inui, K., Takahashi, K., Kure, S., Suzuki, Y., Ohura, T., Miyabayashi, S., Ogawa, E., Iinuma, K., Okada, S., Narisawa, K.
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Bianchi, L.
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[<a href="https://doi.org/10.1007/BF02072092" target="_blank">Full Text</a>]
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Burchell, A., Jung, R. T., Lang, C. C., Bennet, W., Shepherd, A. N.
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[<a href="https://doi.org/10.1016/s0140-6736(87)90484-3" target="_blank">Full Text</a>]
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Burchell, A., Waddell, I. D.
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[<a href="https://doi.org/10.1007/BF01799362" target="_blank">Full Text</a>]
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<a id="Chen1988" class="mim-anchor"></a>
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Chen, Y.-T., Coleman, R. A., Scheinman, J. I., Kolbeck, P. C., Sidbury, J. B.
<strong>Renal disease in type I glycogen storage disease.</strong>
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[<a href="https://doi.org/10.1056/NEJM198801073180102" target="_blank">Full Text</a>]
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<a id="Chen1984" class="mim-anchor"></a>
<div class="">
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Chen, Y.-T., Cornblath, M., Sidbury, J. B.
<strong>Cornstarch therapy in type I glycogen-storage disease.</strong>
New Eng. J. Med. 310: 171-175, 1984.
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[<a href="https://doi.org/10.1056/NEJM198401193100306" target="_blank">Full Text</a>]
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<a id="7" class="mim-anchor"></a>
<a id="Chen1990" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Chen, Y.-T., Scheinman, J. I., Park, H. K., Coleman, R. A., Roe, C. R.
<strong>Amelioration of proximal renal tubular dysfunction in type I glycogen storage disease with dietary therapy.</strong>
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[<a href="https://doi.org/10.1056/NEJM199008303230907" target="_blank">Full Text</a>]
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<a id="Chevalier-Porst1996" class="mim-anchor"></a>
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Chevalier-Porst, F., Bozon, D., Bonardot, A.-M., Bruni, N., Mithieux, G., Mathieu, M., Maire, I.
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[<a href="https://doi.org/10.1136/jmg.33.5.358" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s1043-2760(98)00123-4" target="_blank">Full Text</a>]
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<a id="Cohen1985" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Cohen, J. L., Vinik, A., Faller, J., Fox, I. H.
<strong>Hyperuricemia in glycogen storage disease type I: contributions by hypoglycemia and hyperglucagonemia to increased urate production.</strong>
J. Clin. Invest. 75: 251-257, 1985.
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[<a href="https://doi.org/10.1172/JCI111681" target="_blank">Full Text</a>]
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<a id="Cori1952" class="mim-anchor"></a>
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Cori, G. T., Cori, C. F.
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<a id="12" class="mim-anchor"></a>
<a id="Ekstein2004" class="mim-anchor"></a>
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<p class="mim-text-font">
Ekstein, J., Rubin, B. Y., Anderson, S. L., Weinstein, D. A., Bach, G., Abeliovich, D., Webb, M., Risch, N.
<strong>Mutation frequencies for glycogen storage disease Ia in the Ashkenazi Jewish population.</strong>
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[<a href="https://doi.org/10.1002/ajmg.a.30232" target="_blank">Full Text</a>]
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Emmett, M., Narins, R. G.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/204806/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">204806</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=204806" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Faivre1999" class="mim-anchor"></a>
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Faivre, L., Houssin, D., Valayer, J., Brouard, J., Hadchouel, M., Bernard, O.
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[<a href="https://doi.org/10.1023/a:1005544117285" target="_blank">Full Text</a>]
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<a id="15" class="mim-anchor"></a>
<a id="Fine1968" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Fine, R. N., Wilson, W. A., Donnell, G. N.
<strong>Retinal changes in glycogen storage disease type I.</strong>
Am. J. Dis. Child. 115: 328-331, 1968.
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[<a href="https://doi.org/10.1001/archpedi.1968.02100010330005" target="_blank">Full Text</a>]
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<a id="16" class="mim-anchor"></a>
<a id="Fraumeni1969" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Fraumeni, J. F., Rosen, P. J., Hull, E. W., Barth, R. F., Shapiro, S. R., O'Connor, J. F.
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[<a href="https://doi.org/10.1002/1097-0142(196911)24:5&lt;1086::aid-cncr2820240535&gt;3.0.co;2-w" target="_blank">Full Text</a>]
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<a id="Furukawa1990" class="mim-anchor"></a>
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Furukawa, N., Kinugasa, A., Inoue, F., Imashuku, S., Takamatsu, T., Sawada, T.
<strong>Type I glycogen storage disease with vasoconstrictive pulmonary hypertension.</strong>
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[<a href="https://doi.org/10.1007/BF01799337" target="_blank">Full Text</a>]
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<a id="Gibson1948" class="mim-anchor"></a>
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Gibson, Q. H.
<strong>The reduction of methaemoglobin in red blood cells and studies on the cause of idiopathic methaemoglobinaemia.</strong>
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[<a href="https://doi.org/10.1042/bj0420013" target="_blank">Full Text</a>]
</p>
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<a id="19" class="mim-anchor"></a>
<a id="Greene1976" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Greene, H. L., Slonim, A. E., O'Neill, J. A., Jr., Burr, I. M.
<strong>Continuous nocturnal intragastric feeding for management of type 1 glycogen-storage disease.</strong>
New Eng. J. Med. 294: 423-425, 1976.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/813144/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">813144</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=813144" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1056/NEJM197602192940805" target="_blank">Full Text</a>]
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<a id="20" class="mim-anchor"></a>
<a id="Howell1976" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Howell, R. R., Stevenson, R. E., Ben-Menachem, Y., Phyliky, R. L., Berry, D. H.
<strong>Hepatic adenomata with type I glycogen storage disease.</strong>
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[<a href="https://doi.org/10.1172/JCI117645" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1126/science.8211187" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/(SICI)1097-0223(199604)16:4&lt;333::AID-PD861&gt;3.0.CO;2-G" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0022-3476(05)83422-5" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1056/NEJM196810312791803" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1056/NEJM196810312791802" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/(SICI)1098-1004(200001)15:1&lt;115::AID-HUMU23&gt;3.0.CO;2-W" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF02072089" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1023/a:1005495131118" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/hmg/11.18.2155" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.7326/0003-4819-120-3-199402010-00008" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1023/a:1005605513534" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/gim.2012.41" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1067/mpd.2001.111322" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1023/a:1012407609063" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0022-3476(69)80010-7" target="_blank">Full Text</a>]
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Ada Hamosh - updated : 9/28/2012<br>George E. Tiller - updated : 11/1/2010<br>Marla J. F. O'Neill - updated : 7/27/2010<br>Marla J. F. O'Neill - updated : 3/18/2008<br>Ada Hamosh - updated : 8/15/2005<br>Marla J. F. O'Neill - updated : 10/7/2004<br>Victor A. McKusick - updated : 6/23/2004<br>Ada Hamosh - updated : 3/4/2004<br>George E. Tiller - updated : 9/23/2003<br>Ada Hamosh - updated : 1/23/2002<br>Ada Hamosh - updated : 4/26/2001<br>John A. Phillips, III - updated : 9/29/2000<br>Ada Hamosh - updated : 5/22/2000<br>Sonja A. Rasmussen - updated : 4/24/2000<br>Victor A. McKusick - updated : 1/18/2000<br>Victor A. McKusick - updated : 10/6/1999<br>John A. Phillips, III - updated : 5/12/1998<br>Victor A. McKusick - updated : 2/19/1998<br>Victor A. McKusick - updated : 11/11/1997<br>Victor A. McKusick - updated : 3/10/1997<br>Cynthia K. Ewing - updated : 9/9/1996
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Creation Date:
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Victor A. McKusick : 6/3/1986
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carol : 05/22/2020
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carol : 05/21/2020<br>carol : 01/09/2018<br>carol : 10/14/2016<br>carol : 04/29/2014<br>mcolton : 4/25/2014<br>mcolton : 4/25/2014<br>mcolton : 4/25/2014<br>terry : 11/13/2012<br>alopez : 10/1/2012<br>terry : 9/28/2012<br>terry : 2/15/2011<br>carol : 2/15/2011<br>alopez : 11/3/2010<br>alopez : 11/3/2010<br>terry : 11/1/2010<br>wwang : 7/27/2010<br>terry : 7/27/2010<br>joanna : 9/4/2009<br>terry : 6/3/2009<br>terry : 3/4/2009<br>wwang : 3/24/2008<br>terry : 3/18/2008<br>terry : 12/17/2007<br>mgross : 5/18/2007<br>carol : 4/17/2007<br>carol : 11/15/2005<br>alopez : 8/18/2005<br>terry : 8/15/2005<br>terry : 4/6/2005<br>carol : 10/11/2004<br>terry : 10/7/2004<br>tkritzer : 6/28/2004<br>terry : 6/23/2004<br>carol : 3/17/2004<br>terry : 3/4/2004<br>carol : 12/9/2003<br>cwells : 9/23/2003<br>tkritzer : 9/17/2003<br>alopez : 1/25/2002<br>terry : 1/23/2002<br>alopez : 5/8/2001<br>terry : 4/26/2001<br>mgross : 10/3/2000<br>terry : 9/29/2000<br>alopez : 6/1/2000<br>alopez : 5/31/2000<br>terry : 5/22/2000<br>carol : 4/27/2000<br>terry : 4/24/2000<br>mgross : 1/24/2000<br>terry : 1/18/2000<br>carol : 10/6/1999<br>carol : 9/8/1999<br>dkim : 9/10/1998<br>alopez : 8/3/1998<br>alopez : 8/3/1998<br>alopez : 7/17/1998<br>alopez : 5/12/1998<br>carol : 5/11/1998<br>terry : 5/6/1998<br>mark : 2/25/1998<br>terry : 2/19/1998<br>terry : 11/14/1997<br>terry : 11/11/1997<br>mark : 5/8/1997<br>mark : 5/8/1997<br>mark : 5/8/1997<br>mark : 3/10/1997<br>terry : 3/5/1997<br>carol : 10/1/1996<br>marlene : 8/2/1996<br>terry : 7/26/1996<br>mark : 7/22/1996<br>mark : 7/9/1996<br>terry : 7/1/1996<br>mark : 5/31/1996<br>terry : 5/29/1996<br>mark : 2/5/1996<br>terry : 10/20/1995<br>mark : 9/10/1995<br>carol : 2/10/1995<br>davew : 8/19/1994<br>jason : 7/12/1994<br>warfield : 4/15/1994
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<strong>#</strong> 232200
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GLYCOGEN STORAGE DISEASE Ia; GSD1A
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<em>Alternative titles; symbols</em>
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GSD Ia<br />
GLYCOGEN STORAGE DISEASE I; GSD1<br />
VON GIERKE DISEASE<br />
HEPATORENAL FORM OF GLYCOGEN STORAGE DISEASE<br />
GLUCOSE-6-PHOSPHATASE DEFICIENCY<br />
HEPATORENAL GLYCOGENOSIS
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<strong>SNOMEDCT:</strong> 444707001; &nbsp;
<strong>ORPHA:</strong> 364, 79258; &nbsp;
<strong>DO:</strong> 2749; &nbsp;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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17q21.31
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Glycogen storage disease Ia
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232200
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Autosomal recessive
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3
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G6PC
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613742
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because glycogen storage disease Ia (GSD1A) is caused by homozygous or compound heterozygous mutation in the G6PC gene (613742), which encodes glucose-6-phosphatase (G6Pase), on chromosome 17q21.</p>
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<strong>Description</strong>
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<p>Glycogen storage disease type I, also known as von Gierke disease, typically manifests during the first year of life with severe hypoglycemia and hepatomegaly caused by the accumulation of glycogen. Affected individuals exhibit growth retardation, delayed puberty, lactic acidemia, hyperlipidemia, hyperuricemia, and in adults a high incidence of hepatic adenomas (summary by Lei et al., 1993). </p>
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<strong>Clinical Features</strong>
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<p>Burchell et al. (1987) reported 2 women, aged 51 and 22 years, with partial GSD type Ia, and a 54-year-old man with complete GSD type Ia. The patient with complete type Ia had had unexplained hepatomegaly and a bleeding diathesis since the age of 7 years and gout since age 38. He had spider angiomas, xanthomas, gouty tophi, severe hypoglycemia, and compensated metabolic acidosis. The diagnosis was not made until he presented with hepatocellular carcinoma. The 2 patients with partial type Ia had low or absent blood-glucose response to glucagon. Their hypoglycemic symptoms occurred with exercise, suggesting that they were unable to respond by increasing their hepatic glucose production above a certain level. In both cases, symptoms resolved after the introduction of frequent meals high in cornstarch, a treatment proposed by Chen et al. (1984). Of 2 sisters with type Ia GSD, both of whom had multiple hepatic adenomas, malignancy developed in 1 at the age of 20 years. AFP levels were normal throughout the entire course of this patient, whereas the younger sister had elevated levels despite the absence of malignant lesions. </p><p>Chen et al. (1988) found that of the 38 patients with type I glycogen storage disease under their care, the 18 children under age 10 years had normal renal function. Fourteen of the 20 older patients (aged 13 to 47 years) had disturbed renal function manifested by persistent proteinuria; many also had hypertension, hematuria, or altered creatinine clearance. Progressive renal insufficiency developed in 6 of these 14 patients, leading to death from renal failure in 3. At the onset of proteinuria, creatinine clearance was increased in 7 patients. Renal biopsies performed after an average of 10 years of proteinuria demonstrated focal segmental glomerulosclerosis. </p><p>In studies of 11 patients, Restaino et al. (1993) found that 5 had renal calculi, nephrocalcinosis or both, and 5 had hypercalciuria. All 9 who were tested had evidence of impaired acid excretion. Restaino et al. (1993) interpreted the findings as indicating the presence of an incomplete form of distal renal tubular acidosis, which may be the cause of hypercalciuria and nephrocalcinosis. </p><p>Obara et al. (1993) described the renal histology in 2 adult patients with type I glycogen storage disease, a 37-year-old woman and a 28-year-old man. </p><p>Smit (1993) studied retrospectively 41 patients over 10 years of age from 5 different European centers. Height was below the third percentile in 19. Hypoglycemia was still reported in 6. Hepatomegaly was present in 39 of the 40 and was marked in at least 11 of these. Adenomas were detected in 11 of 39 patients. Blood cholesterol concentration was elevated in 31 of 38 patients; blood triglycerides were elevated in 29 of 34 patients. Blood uric acid concentration was elevated in 19 of 35 patients, of whom 12 were being treated with allopurinol. </p><p>Ullrich and Smit (1993) reviewed the clinical aspects of type I GSD as discussed in a symposium. Pancreatitis in association with hypertriglyceridemia or severe metabolic acidosis was reported in isolated cases. No progression of hepatic adenoma after pregnancy was observed. A huge adenoma was successfully removed surgically in a female patient. The mechanism of renal hyperfiltration manifested by elevated glomerular filtration rate remained unclear. It had been found in children below the age of 1 year.</p><p>Liver adenomas are often present in GSD I (Howell et al., 1976) and may undergo malignant transformation (Zangeneh et al., 1969). Stevenson et al. (1984) described hepatocellular carcinoma developing in a 29-year-old man with GSD I who had been recognized 2 years before to have multiple liver adenomas. He was relatively asymptomatic in childhood and adolescence. His growth lagged behind that of his peers and puberty was delayed to age 17. He was active in competitive sports in high school, however, and was inducted into military service at age 27. Ito et al. (1987) described sibs with GSD I and hepatoblastoma. </p><p>Bianchi (1993) found 50 published cases of hepatocellular adenoma in GSD I and 10 cases of hepatocellular carcinoma. </p><p>Reitsma-Bierens (1993) pointed out that adult patients may have chronic renal disease. Gout, nephropathy, and renal stones are not the only complications; after a period of 'silent' hyperfiltration, renal damage develops with proteinuria, hypertension and renal dysfunction. Biopsies of such patients show focal glomerulosclerosis. </p><p>In a multicenter study in the United States and Canada, Talente et al. (1994) reviewed data from 37 patients with type Ia GSD, 5 patients with GSD type Ib (GSD1B; 232220), and 9 patients with GSD type III (GSD3; 232400), all of whom were 18 years of age or older. In the patients with GSD type Ia, problems included short stature (90%), hepatomegaly (100%), hepatic adenomas (75%), anemia (81%), proteinuria or microalbuminuria (67%), kidney calcifications (65%), osteopenia or fractures, or both (27%), increased alkaline phosphatase (61%) and gamma-glutamyltransferase (93%) activities, and increased serum cholesterol (76%) and triglyceride (100%) levels. Hyperuricemia was present in 89%. Talente et al. (1994) suggested that the hyperuricemia and pyelonephritis should be treated to prevent nephrocalcinosis and additional renal damage. </p><p>Pizzo (1980) and Furukawa et al. (1990) described vasoconstrictive pulmonary hypertension associated with GSD I. In both patients there was no evidence of portal hypertension; both patients developed pulmonary hypertension in their second decade. Furukawa et al. (1990) suggested that this rare complication, if not a coincidence, could be due to response of the pulmonary vascular bed to a circulating agent that could not be removed or inactivated by the damaged liver, or alternatively to nocturnal oxygen desaturation caused by abnormal breathing during sleep. </p><p>Michels and Beaudet (1980) and Kikuchi et al. (1991), among others, reported chronic pancreatitis as a complication of the hyperlipidemia of this disorder. </p><p>Ryan et al. (1994) described 3 successive pregnancies in a Chinese woman with GSD type Ia. The diagnosis had been made in childhood. At the age of 10 years, she was seen with hepatomegaly, renomegaly, anemia, fasting hypoglycemia, hyperuricemia, hypertriglyceridemia, frequent epistaxis, and prolonged bleeding time. An open liver biopsy revealed only trace amounts of glucose-6-phosphatase activities (1 to 2% of normal microsomal activity). She was started on a regimen of frequent day feedings, which maintained adequate nutritional support for growth and development. However, puberty was delayed, with menarche at age 14. When she was 23 years old, 2 liver masses consistent with hepatic adenomas were noted. Diet was augmented with nocturnal nasogastric feedings of Polycose (glucose polymers derived from controlled hydrolysis of cornstarch) at 90 gm/8 hours. This resulted in a reduction in total liver size but not in the size of the adenomas. The patient's first pregnancy, at age 29, ended in an unexpected fetal death at 33 weeks 5 days of gestation. At autopsy the fetus had no gross abnormalities that could explain the cause of death. An unrecognized hypoglycemic episode in the mother was suggested as a possibility. Two subsequent pregnancies were monitored in hospital after the thirty-third and thirty-fourth weeks, respectively. In the second pregnancy, cesarean section was performed at 35 weeks 4 days with delivery of a girl. A repeat cesarean section at 35 weeks 2 days was performed for the third pregnancy with delivery of a boy. Both infants were healthy and appeared to be unaffected by von Gierke disease. Hepatic adenomas did not enlarge during the pregnancies. </p><p>Wang et al. (2012) reported hematologic data and iron studies from 202 subjects (163 with GSDIa and 39 with GSDIb). Anemia was defined as hemoglobin concentration less than the 5th percentile for age and gender; severe anemia was defined as presence of a hemoglobin less than 10 g/dl. In GSDIa, 68 of 163 patients were anemic at their last follow-up. Preadolescent patients tended to have milder anemia secondary to iron deficiency, but anemia of chronic disease predominated in adults. Severe anemia was present in 8 of 163 patients, of whom 75% had hepatic adenomas. The anemia improved or resolved in all 10 subjects who underwent resection of liver lesions. Anemia was present in 72% of patients with GSDIb, and severe anemia occurred in 16 of 39 patients. Anemia in patients with GSDIb was associated with exacerbations of glycogen storage disease enterocolitis, and there was a significant correlation between C-reactive protein and hemoglobin levels (p = 0.036). Wang et al. (2012) concluded that although anemia is common to both GSDIa and GSDIb, their pathophysiology appears to be different. Severe anemia in GSDIa is likely due to hepatic adenomas, whereas anemia in GSDIb is likely due to enterocolitis. </p><p>Minarich et al. (2012) studied bone mineral density in patients with GSDIa and Ib. In GSDIa, 23 of 42 patients (55%) had low bone mineral density, which tended to be associated with other disease complications (p = 0.02) and lower mean serum 25-hydroxyvitamin D concentration (p = 0.03). In patients with GSDIb, 8 of 12 (66.7%) had low bone mineral density. Minarich et al. (2012) did not detect an association with duration of granulocyte colony-stimulating factor therapy, mean triglyceride level, erythrocyte sedimentation rate, or 25-hydroxyvitamin D concentration, and there was no evidence that corticosteroid therapy was associated with lower bone mineral density. </p>
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<strong>Biochemical Features</strong>
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<p>In patients with glycogen storage disease type Ia, serum triglyceride concentrations are markedly raised, whereas phospholipids and cholesterol levels are only moderately raised. In addition, both VLDL and LDL lipoprotein fractions are raised. Despite these abnormalities, endothelial vascular dysfunction and atherosclerosis seem to be rare in such patients. Trioche et al. (2000) studied both apoE (107741) polymorphism (40 patients) and serum concentration (20 patients) in patients with glycogen storage disease type Ia. The distribution of each allele at the apoE locus was similar to that reported in the general population, whereas serum apoE concentrations were raised in the GSD Ia patients. Mean apoE concentrations were 10.35 +/- 3.80 mg/dL versus 4.08 +/- 1.23 mg/dL in 65 age-matched normal controls. Trioche et al. (2000) postulated that the raised apoE levels in the serum could play an important role in counterbalancing the increased atherosclerosis risk associated with the lipid profile of patients with GSD Ia. Trioche et al. (2000) suggested that increased hepatic synthesis is the likely etiology of the increased levels of apoE. </p>
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<strong>Diagnosis</strong>
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<p>Seydewitz and Matern (2000) achieved 100% mutation detection rate in a study of 40 patients with GSD Ia. They identified 5 novel mutations in the G6PC gene. The authors suggested that molecular genetic analysis is a reliable and convenient alternative to enzyme assay in fresh liver biopsy specimens for the diagnosis of GSD Ia. </p><p>Marcolongo et al. (1998) studied the transport of glucose-6-phosphate (G6P), glucose, and orthophosphate into liver microsomes isolated from 6 patients with various subtypes of GSD I using a light-scattering method. They found that G6P, glucose, and phosphate could all cross the microsomal membrane in 4 cases of GSD type Ia. In contrast, liver microsomal transport of G6P and phosphate was deficient in the GSD Ib (232220) and Ic (232240) patients, respectively. Marcolongo et al. (1998) stated that these results supported the involvement of multiple proteins (and genes) in GSD I. Since the results obtained with the light-scattering method were in accordance with conventional kinetic analysis of the microsomal glucose-6-phosphatase system, Marcolongo et al. (1998) suggested that this technique could be used to diagnose directly GSD types Ib and Ic. </p><p><strong><em>Prenatal Diagnosis</em></strong></p><p>
Qu et al. (1996) performed prenatal diagnosis by chorionic villus sampling in an Ashkenazi Jewish family in which a previous child was homoallelic and both parents were heterozygous for the R83C mutation (613742.0002) in the G6PC gene. Molecular analysis showed that the fetus was not affected. </p>
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<strong>Clinical Management</strong>
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<p>Emmett and Narins (1978) found no improvement with renal transplantation. However, Selby et al. (1993) reported therapeutically successful orthotopic liver transplantation in a 16.5-year-old girl with GSD I. </p><p>Chen et al. (1984) presented experience with raw cornstarch diet as a substitute for continuous nocturnal infusions as a measure to counteract hypoglycemia, which is the common denominator in the pathogenesis of the main manifestations of the disorder. In infants with low levels of pancreatic activity, the therapy was ineffective. </p><p>Chen et al. (1990) found that indicators of proximal renal tubular dysfunction improved in patients who were given dietary therapy such as total parenteral nutrition, nocturnal nasogastric infusion of glucose, or frequent oral administration of uncooked cornstarch. The indexes used were urinary excretion of amino acids, phosphate, and beta-2-microglobulin (109700). </p><p>In 14 children with GSD Ia and GSD Ib who ranged in age from 4 to 16 years, Lee et al. (1996) found that the use of uncooked cornstarch achieved satisfactory glycemia lasting only a median of 4.25 hours (range 2.5 to 6). </p><p>The use of diazoxide in patients with GSD type Ia was first described by Rennert and Mukhopadhyay (1968) for improvement of glucose homeostasis. The treatment was abandoned because of skin rashes and later forgotten. Unaware of this early observation, Nuoffer et al. (1997) treated 2 originally prepubertal girls with GSD type Ia and short stature with low-dose diazoxide (3 to 4.8 mg/kg per day) for 7 and 4 years, respectively. Both showed an impressive catch-up growth. This appeared to be due to prolongation of normoglycemia after meals and reduction of fasting lactic acidosis by the drug. Nuoffer et al. (1997) speculated that blood lactic acidosis is a major cause of growth retardation in this disorder. The mode of action of diazoxide seems to be linked to K(+)-ATP channel activation. The resulting hyperpolarization of membranes decreases insulin release. The drug was given at the beginning of meals and before going to bed. </p><p>Faivre et al. (1999) reported 3 patients with GSD Ia in whom liver transplantation was performed at 15, 17, and 23 years of age because of multiple hepatic adenomas in all 3 patients with a fear of malignant transformation, and of poor metabolic balance and severe growth retardation in the youngest. Renal function was normal in all patients. During the 6 to 8 years following transplantation, the quality of life was initially greatly improved, with none of the previous dietary restraints and a spectacular increase in height. However, long-term complications included chronic hepatitis C in 1 patient, gouty attacks in another, and focal segmental glomerulosclerosis with progressive renal insufficiency in the third. The experience was taken to indicate that liver transplantation does not prevent focal segmental glomerulosclerosis associated with GSD Ia. </p><p>Weinstein et al. (2001) studied 15 patients with type Ia glycogen storage disease and found a strong inverse exponential relationship between age and citrate excretion. Urinary citrate excretion was unrelated to markers of metabolic control. Hypercalciuria occurred in 9 of 15 patients and was also inversely correlated with age. Weinstein et al. (2001) concluded that hypocitraturia that worsens with age occurs in metabolically compensated patients with GSD Ia. The combination of low citrate excretion and hypercalciuria appears to be important in the pathogenesis of nephrocalcinosis and nephrolithiasis. Weinstein et al. (2001) suggested that citrate supplementation may be beneficial in preventing or ameliorating nephrocalcinosis and the development of urinary calculi in GSD Ia. </p><p>Wierzbicki et al. (2001) investigated the apoB turnover in GSD Ia using an exogenous labeling method in 1 sib from a kinship with established GSD Ia. Their study demonstrated normal hepatic secretion of VLDL, but hypocatabolism of VLDL, probably due to lack of lipoprotein lipase activity. The production rate of intermediate density lipoprotein (IDL) was slightly increased, but the turnover rate of LDL was normal. Wierzbicki et al. (2001) suggested that in addition to cornstarch diet and fat restriction, treatment of severe mixed hyperlipidemia in GSD Ia should possibly involve fibrates that activate lipoprotein lipase and may enhance the clearance of IDL, rather than omega-3 fatty acids, which principally suppress hepatic secretion of VLDL. </p><p>Rousseau-Nepton et al. (2018) used Glycosade in place of uncooked cornstarch to manage overnight fasting in 9 adults with GSD1A and found that the average duration of fasting increased from 4 to 8 hours, without hypoglycemic events. They also found that sleep quality, as assessed by the Pittsburgh Sleep Quality Index (PSQI) questionnaire, was significantly improved, whereas no change was detected on sleep diary, actigraphy, or quality of life assessments. </p>
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<strong>Inheritance</strong>
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<p>Glycogen storage disease Ia is an autosomal recessive disorder (Lei et al., 1993). </p>
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<strong>Population Genetics</strong>
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<p>Lei et al. (1993) stated that glycogen storage disease Ia has an incidence of 1 in 100,000 to 300,000. </p><p>Ekstein et al. (2004) found that the prevalence of GSD Ia in the Ashkenazi Jewish population is 1 in 20,000, 5 times higher than that for the general Caucasian population. </p>
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<strong>Molecular Genetics</strong>
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<p>In 2 patients with glycogen storage disease Ia, Lei et al. (1993) identified homozygous and compound heterozygous mutations, respectively, in the G6PC gene (613742.0001-613742.0003). </p><p>Lei et al. (1995) used SSCP analysis and DNA sequencing to characterize the G6PC gene of 70 unrelated patients with enzymatically confirmed diagnosis of type Ia GSD and detected mutations in all except 17 alleles (88%). They uncovered 16 mutations that were shown by expression to abolish or greatly reduce G6Pase activity and that, therefore, were responsible for the clinical disorder. R83C (613742.0002) and Q347X (613742.0004) were the most prevalent mutations found in Caucasians; 130X (613742.0001) and R83C were most prevalent in Hispanics; R83H was most prevalent in Chinese. The Q347X mutation was identified only in Caucasians, and the 130X mutation was identified only in Hispanic patients. </p><p>A form of GDS Ia, designated GSD IaSP and described in 1 patient by Burchell and Waddell (1990), was proposed to be caused by a defect in a 21-kD stabilizing protein, SP, purified on the basis of its ability to stabilize the G6Pase catalytic unit in vitro. Lei et al. (1995) demonstrated a mutation in exon 2 of the G6PC gene that converted an arg at codon 83 to a cys (R83C) in both alleles of the type IaSP patient. The R83C mutation (613742.0002) was also demonstrated in homozygous form in 1 and heterozygous form in 5 GSD type Ia patients, indicating that so-called type IaSP is a misclassification of GSD type Ia. </p><p>Kajihara et al. (1995) identified a splice mutation in exon 5 (727G-T) of the G6PC cDNA from the liver of a Japanese patient with GSD type Ia (613742.0005). Another 8 unrelated Japanese families with a total of 9 affected individuals were found to have the same mutation, thus representing 91% of patients and carriers of GSD Ia in Japan. </p><p>Chevalier-Porst et al. (1996) sequenced both alleles of 24 French GSD type Ia patients; 14 different mutations were found, allowing the identification of complete genotypes for all the patients. These included 9 new mutations. Five mutations, Q347X, R83C, D38V (613742.0006), G188R (613742.0012), and 158Cdel, accounted for 75% of the mutated alleles. </p><p>Parvari et al. (1997) reported the biochemical and clinical characteristics as well as mutational analyses of 12 Israeli GSD Ia patients of different families, who represent most of the GSD Ia patients in Israel. All 9 Jewish patients, as well as a Muslim Arab patient, were found to have the R83C mutation (613742.0002). Two Muslim Arab patients had the val166-to-gly (V166G) mutation (613742.0014), which had not been found in other populations. </p><p>Akanuma et al. (2000) identified G6PC mutations in all alleles from 51 unrelated Japanese patients with GSD Ia. A total of 7 mutations were identified, including 3 novel mutations. The most prevalent mutation, 727G-T, accounting for 88 of 102 mutant alleles, creates an aberrant 3-prime splice site within exon 5. The authors demonstrated that ectopically transcribed G6Pase mRNA can be detected in lymphoblastoid cells and may be used for the characterization of mutations that affect mRNA splicing. They concluded that noninvasive molecular diagnosis may ultimately replace the conventional method of enzymatic diagnosis that requires liver biopsy in Japanese patients. </p><p>Stroppiano et al. (1999) analyzed the G6Pase gene in 53 unrelated Italian patients and identified 88 mutant alleles (82.6%) with 18 (17.4%) remaining unidentified. The most prevalent mutation was R83C (46.2%), followed by Q347X (20.7%); 3 other mutations (R295C, D38V, and G270V) accounted for 5.6% of disease alleles. The authors suggested that noninvasive screening could be used in Italian patients clinically suspected of having GSD Ia, particularly in those from Sicily, where the R83C mutation was present in 80% of mutant alleles. </p><p>In all of 13 unrelated Korean patients with GSD Ia, Ki et al. (2004) identified mutant alleles of the G6PC gene. Three known mutations and 2 novel mutations were identified. The most frequent mutant allele was 727G-T, present in 21 of 26 alleles (81%), which was slightly lower than that in Japanese, where it was present in 86 alleles (92%), but much higher than that in Taiwan Chinese (present in 44.4% of alleles). </p><p>Hepatocellular adenoma is a frequent long-term complication of glycogen storage disease type I, and malignant transformation to hepatocellular carcinoma (HCC; see 114550) occurs in some cases. Kishnani et al. (2009) performed genomewide SNP analysis and mutation detection of target genes in 10 GSD Ia-associated HCA and 7 general population HCA cases. Chromosomal aberrations were detected in 60% of the GSD Ia HCA and 57% of general population HCA. Coincident gain of chromosome 6p and loss of 6q were seen only in GSD Ia HCA (3 cases), with 1 additional GSD I patient showing submicroscopic 6q14.1 deletion. The sizes of GSD Ia adenomas with chromosome 6 aberrations were larger than the sizes of adenomas without the changes (p = 0.012). Expression of IGF2R (FCGR2A; 146790) and LATS1 (603473) candidate tumor suppressor genes at 6q was reduced in more than 50% of 7 GSD Ia HCA examined. None of the GSD Ia HCA had biallelic mutations in the HNF1A (142410) gene. The authors suggested that chromosome 6 alterations could be an early event in the liver tumorigenesis in GSD I, and possibly in the general population. </p><p><strong><em>Reviews</em></strong></p><p>
Chou and Mansfield (1999) reviewed the molecular genetics of type I glycogen storage diseases. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Animal Model</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Lei et al. (1996) created a G6Pase knockout mouse that mimics the pathophysiology of human GSD Ia patients. In the knockout mouse, both the GTPase enzymatic activity and the glucose-6-P transport activity were destroyed. By examining G6Pase in liver and kidney, the primary gluconeogenic tissues, they demonstrated that glucose-6-P transport and hydrolysis are performed by separate proteins that are tightly coupled. They proposed a modified translocase catalytic unit model for G6Pase catalysis. </p><p>Using neonatal G6Pase-deficient mice, Sun et al. (2002) demonstrated that a combined adenovirus and adeno-associated virus vector-mediated gene transfer led to sustained G6Pase expression in both the liver and the kidney, and corrected the murine GSD Ia disease for at least 12 months. </p><p>Lam et al. (2005) reported that a primary increase in hypothalamic glucose levels in rats lowers blood glucose by inhibition of liver glucose production, due to inhibition of glucose-6-phosphatase. The effect of glucose requires its conversion to lactate followed by stimulation of pyruvate metabolism, which leads to activation of ATP-sensitive potassium channels. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>History</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Demonstration of the deficiency of glucose-6-phosphatase in type I glycogen storage disease by Cori and Cori (1952) is often pointed to as the first specific enzymopathy identified in a hereditary disorder. Although it was perhaps the first disorder characterized that can be viewed as a true garrodian inborn error of metabolism, enzyme deficiency was identified earlier in methemoglobinemia (250800) by Gibson (1948). </p><p>Senior and Loridan (1968) found that the effects of glycerol administered by mouth on levels of glucose and of lactate, together with the response to epinephrine or glucagon, permitted differentiation of the several types of hepatic glycogenosis (I, II, III and IV). </p>
</span>
<div>
<br />
</div>
</div>
<div>
<h4>
<span class="mim-font">
<strong>See Also:</strong>
</span>
</h4>
<span class="mim-text-font">
Cohen et al. (1985); Fine et al. (1968); Fraumeni et al. (1969);
Greene et al. (1976); Howell (1965); Lei et al. (1994); Limmer et al.
(1988); Malatack et al. (1983); Senior and Loridan (1968); Sidbury
(1965); Spencer-Peet et al. (1971); Stamm and Webb (1975)
</span>
<div>
<br />
</div>
</div>
<div>
<h4>
<span class="mim-font">
<strong>REFERENCES</strong>
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<p class="mim-text-font">
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Restaino, I., Kaplan, B. S., Stanley, C., Baker, L.
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Hilary J. Vernon - updated : 05/21/2020<br>Ada Hamosh - updated : 9/28/2012<br>George E. Tiller - updated : 11/1/2010<br>Marla J. F. O&#x27;Neill - updated : 7/27/2010<br>Marla J. F. O&#x27;Neill - updated : 3/18/2008<br>Ada Hamosh - updated : 8/15/2005<br>Marla J. F. O&#x27;Neill - updated : 10/7/2004<br>Victor A. McKusick - updated : 6/23/2004<br>Ada Hamosh - updated : 3/4/2004<br>George E. Tiller - updated : 9/23/2003<br>Ada Hamosh - updated : 1/23/2002<br>Ada Hamosh - updated : 4/26/2001<br>John A. Phillips, III - updated : 9/29/2000<br>Ada Hamosh - updated : 5/22/2000<br>Sonja A. Rasmussen - updated : 4/24/2000<br>Victor A. McKusick - updated : 1/18/2000<br>Victor A. McKusick - updated : 10/6/1999<br>John A. Phillips, III - updated : 5/12/1998<br>Victor A. McKusick - updated : 2/19/1998<br>Victor A. McKusick - updated : 11/11/1997<br>Victor A. McKusick - updated : 3/10/1997<br>Cynthia K. Ewing - updated : 9/9/1996
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