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<title>
Entry
- #232800 - GLYCOGEN STORAGE DISEASE VII; GSD7
- OMIM
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<span class="h4">#232800</span>
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<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/232800"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS232200"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</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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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#populationGenetics">Population Genetics</a>
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
<div style="display: table-row">
<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9660;</div>
&nbsp;
<div style="display: table-cell;">Clinical Resources</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
<div class="panel-body small mim-panel-body">
<div><a href="https://clinicaltrials.gov/search?cond=(GLYCOGEN STORAGE DISEASE VII) OR (PFKM)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=19&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
<div><a href="https://www.diseaseinfosearch.org/x/3128" 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://medlineplus.gov/genetics/condition/glycogen-storage-disease-type-vii" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=232800[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="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=371" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/44113e4a-31f1-4a2b-bb17-3cfeb84a4eaa/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>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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&nbsp;
<div style="display: table-cell;">Animal Models</div>
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<div class="panel-body small mim-panel-body">
<div><a href="https://www.alliancegenome.org/disease/DOID:11721" 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/232800" 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/OMIA000421/" 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><a href="https://wormbase.org/resources/disease/DOID:11721" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9658;</div>
&nbsp;
<div style="display: table-cell;">Cell Lines</div>
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</a>
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<div class="panel-body small mim-panel-body">
<div><a href="https://catalog.coriell.org/Search?q=OmimNum:232800" 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>
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<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;
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<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> 89597008<br />
<strong>ICD10CM:</strong> E74.09<br />
<strong>ORPHA:</strong> 371<br />
<strong>DO:</strong> 11721<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>
232800
</span>
</span>
</div>
</div>
<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
GLYCOGEN STORAGE DISEASE VII; GSD7
</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 VII<br />
MUSCLE PHOSPHOFRUCTOKINASE DEFICIENCY<br />
PFKM DEFICIENCY<br />
TARUI DISEASE
</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/12/327?start=-3&limit=10&highlight=327">
12q13.11
</a>
</span>
</td>
<td>
<span class="mim-font">
Glycogen storage disease VII
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/232800"> 232800 </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">
PFKM
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610681"> 610681 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<div class="btn-group ">
<a href="/clinicalSynopsis/232800" 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>
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</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')">
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<span class="sr-only">Toggle Dropdown</span>
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&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/232800" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/232800" 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> ABDOMEN </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Liver </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Gallstones due to hemolytic anemia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1968726&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1968726</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/235919008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">235919008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/266474003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">266474003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/256896000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">256896000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K80" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K80</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/574" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">574</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001081" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001081</a>]</span><br /> -
Jaundice due to hemolytic anemia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1968727&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1968727</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/18165001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">18165001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R17" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R17</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000952" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000952</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>
<div>
<span class="h5 mim-font">
<em> Feet </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Gout due to increased uric acid <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1968730&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1968730</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/90560007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">90560007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M10</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M10.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M10.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/274.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">274.9</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/274" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">274</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>
<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">
- Jaundice due to hemolytic anemia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1968727&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1968727</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/18165001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">18165001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R17" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R17</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000952" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000952</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">
- Exercise intolerance <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/267044007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">267044007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0424551&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0424551</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003546" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003546</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003546" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003546</a>]</span><br /> -
Muscle weakness <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/26544005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">26544005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151786&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151786</a>, <a href="https://bioportal.bioontology.org/search?q=C0030552&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0030552</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001324" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001324</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001324" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001324</a>]</span><br /> -
Muscle cramps with exertion <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855578&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855578</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003710" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003710</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003710" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003710</a>]</span><br /> -
Muscle fibers may contain abnormal polysaccharide <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1968728&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1968728</a>]</span><br /> -
Increased muscle glycogen content <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1968729&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1968729</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009051" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009051</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009051" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009051</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">
- Hemolytic anemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/61261009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">61261009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D55-D59" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D55-D59</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0002878&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0002878</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001878" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001878</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001878" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001878</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">
- Muscle phosphofructokinase deficiency <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/89597008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">89597008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E74.09" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E74.09</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0017926&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0017926</a>]</span><br /> -
Myoglobinuria with extreme exertion <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856276&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856276</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 /> -
Increased bilirubin <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/176271000119108" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">176271000119108</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/26165005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">26165005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0741494&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0741494</a>, <a href="https://bioportal.bioontology.org/search?q=C0311468&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0311468</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002904" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002904</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0003573" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003573</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003573" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003573</a>]</span><br /> -
Increased reticulocyte count <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/46049004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">46049004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0206160&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0206160</a>, <a href="https://bioportal.bioontology.org/search?q=C0853718&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0853718</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001923" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001923</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001923" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001923</a>]</span><br /> -
Decreased erythrocyte 2,3-diphosphoglycerate (2,3-DPG) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1968731&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1968731</a>]</span><br /> -
No increase of muscle lactate with ischemic exercise testing <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1968732&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1968732</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">
- Variable severity <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861403&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861403</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003828" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003828</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003828" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003828</a>]</span><br /> -
Exercise intolerance often evident in childhood<br /> -
Late-adult onset has been reported<br /> -
A severe infantile variant has been rarely reported<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 muscle phosphofructokinase gene (PFKM, <a href="/entry/610681#0001">610681.0001</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 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/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/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 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/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/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 VII (GSD7) is caused by homozygous or compound heterozygous mutation in the PFKM gene (<a href="/entry/610681">610681</a>), which encodes muscle phosphofructokinase, on chromosome 12q13.</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>
<div id="mimDescriptionFold" class="collapse in ">
<span class="mim-text-font">
<p>Glycogen storage disease VII is an autosomal recessive metabolic disorder characterized clinically by exercise intolerance, muscle cramping, exertional myopathy, and compensated hemolysis. Myoglobinuria may also occur. The deficiency of the muscle isoform of PFK results in a total and partial loss of muscle and red cell PFK activity, respectively. <a href="#22" class="mim-tip-reference" title="Raben, N., Sherman, J. B. &lt;strong&gt;Mutations in muscle phosphofructokinase gene.&lt;/strong&gt; Hum. Mutat. 6: 1-6, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7550225/&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;7550225&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/humu.1380060102&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="7550225">Raben and Sherman (1995)</a> noted that not all patients with GSD VII seek medical care because in some cases it is a relatively mild disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7550225" 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>
</span>
<div>
<br />
</div>
</div>
<div>
<a id="clinicalFeatures" class="mim-anchor"></a>
<h4 href="#mimClinicalFeaturesFold" id="mimClinicalFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimClinicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Clinical Features</strong>
</span>
</h4>
</div>
<div id="mimClinicalFeaturesFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<p><a href="#31" class="mim-tip-reference" title="Tarui, S., Okuno, G., Ikura, Y., Tanaka, T., Suda, M., Nishikawa, M. &lt;strong&gt;Phosphofructokinase deficiency in skeletal muscle: a new type of glycogenosis.&lt;/strong&gt; Biochem. Biophys. Res. Commun. 19: 517-523, 1965.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/14339001/&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;14339001&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0006-291x(65)90156-7&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="14339001">Tarui et al. (1965)</a> first described this disorder in 3 affected Japanese sibs, a 20-year-old female and 23- and 27-year-old males. The parents were first cousins. The affected sibs complained of easy fatigability and inability to keep pace with other persons. Physical examination revealed marked weakness and stiffness in muscle groups subjected to vigorous or prolonged exertion. Venous lactate failed to rise with the ischemic exercise test; 1 sib had myoglobinuria following the test. PFK activity was entirely absent in muscle and about half normal in erythrocytes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14339001" 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="#16" class="mim-tip-reference" title="Layzer, R. B., Rowland, L. P., Ranney, H. M. &lt;strong&gt;Muscle phosphofructokinase deficiency.&lt;/strong&gt; Arch. Neurol. 17: 512-523, 1967.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4228297/&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;4228297&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1001/archneur.1967.00470290066009&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="4228297">Layzer et al. (1967)</a> reported an 18-year-old male with muscle PFK deficiency and red cell hemolysis. The erythrocytes of both unaffected parents showed partial enzyme activity. <a href="#16" class="mim-tip-reference" title="Layzer, R. B., Rowland, L. P., Ranney, H. M. &lt;strong&gt;Muscle phosphofructokinase deficiency.&lt;/strong&gt; Arch. Neurol. 17: 512-523, 1967.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4228297/&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;4228297&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1001/archneur.1967.00470290066009&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="4228297">Layzer et al. (1967)</a> suggested that red cell PFK is composed of 2 types of subunits, 1 of which is the sole subunit present in muscle PFK. The authors concluded that the genetic defect likely involves a subunit common to both the muscle and the red cell enzyme, and furthermore postulated autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4228297" 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="#26" class="mim-tip-reference" title="Satoyoshi, E., Kowa, H. &lt;strong&gt;A myopathy due to glycolytic abnormality.&lt;/strong&gt; Arch. Neurol. 17: 248-256, 1967.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4228753/&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;4228753&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1001/archneur.1967.00470270026004&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="4228753">Satoyoshi and Kowa (1967)</a> described myopathy in 2 affected brothers. Family history revealed that myopathy was also present in a sister, their mother, and a son of 1 sister. Onset was about age 35 years with delayed muscle pain and stiffness on exertion, but absence of contracture or weakness on ischemic exercise. Phosphofructokinase activity was about 40% of normal in skeletal muscle. Oral ingestion of fructose relieved the symptoms. <a href="#26" class="mim-tip-reference" title="Satoyoshi, E., Kowa, H. &lt;strong&gt;A myopathy due to glycolytic abnormality.&lt;/strong&gt; Arch. Neurol. 17: 248-256, 1967.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4228753/&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;4228753&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1001/archneur.1967.00470270026004&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="4228753">Satoyoshi and Kowa (1967)</a> suggested the possible role of an inhibitor in the disease process. <a href="#39" class="mim-tip-reference" title="Waterbury, L., Frenkel, E. P. &lt;strong&gt;Hereditary nonspherocytic hemolysis with erythrocyte phosphofructokinase deficiency.&lt;/strong&gt; Blood 39: 415-425, 1972.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4258222/&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;4258222&lt;/a&gt;]" pmid="4258222">Waterbury and Frenkel (1972)</a> found an intermediate level (60% of normal) of the PFK enzyme in the red cells of a physician with chronic compensated hemolysis and in his mother and grandmother who lacked evidence of hemolysis. The proband had 9% reticulocytes. PFK of the proband showed markedly increased lability on in vitro studies. The absence of muscle disease was atypical of the usual phenotype associated with type VII glycogen storage disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4228753+4258222" 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="#33" class="mim-tip-reference" title="Vora, S., Corash, L., Engel, W. K., Durham, S., Seaman, C., Piomelli, S. &lt;strong&gt;The molecular mechanism of the inherited phosphofructokinase deficiency associated with hemolysis and myopathy.&lt;/strong&gt; Blood 55: 629-635, 1980.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6444532/&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;6444532&lt;/a&gt;]" pmid="6444532">Vora et al. (1980)</a> studied a patient with the rare Tarui disease, in which myopathy and hemolysis are associated with PFK deficiency. The proband was a 31-year-old man who suffered from muscular weakness and myoglobinuria on exertion. He showed mild erythrocytosis despite laboratory evidence of hemolysis. His red cell PFK was exclusively of the L (liver) type (PFKL; <a href="/entry/171860">171860</a>). Decreased production of 2,3-DPG was held responsible for the paradoxic erythrocytosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6444532" 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="Tani, K., Fujii, H., Takegawa, S., Miwa, S., Koyama, W., Kanayama, M., Imanaka, A., Imanaka, F., Kuramoto, A. &lt;strong&gt;Two cases of phosphofructokinase deficiency associated with congenital hemolytic anemia found in Japan.&lt;/strong&gt; Am. J. Hemat. 14: 165-174, 1983.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6220601/&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;6220601&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajh.2830140208&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="6220601">Tani et al. (1983)</a> studied 2 unrelated Japanese kindreds with PFKM deficiency associated with congenital nonspherocytic hemolytic anemia and mild myopathy. Both probands had jaundice, gallstones, and slight to moderate exercise intolerance. Both also had decreased red cell PFK activity and no increase of blood lactate during ischemic exercise testing. Electrophoresis of red cell PFK showed complete absence of the PFK muscle isozyme. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6220601" 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="Etiemble, J., Kahn, A., Boivin, P., Bernard, J. F., Goudemand, M. &lt;strong&gt;Hereditary hemolytic anemia with erythrocyte phosphofructokinase deficiency.&lt;/strong&gt; Hum. Genet. 31: 83-91, 1976.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/129430/&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;129430&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00270403&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="129430">Etiemble et al. (1976)</a>, <a href="#8" class="mim-tip-reference" title="Etiemble, J., Picat, C., Simeon, J., Blatrix, C., Boivin, P. &lt;strong&gt;Inherited erythrocyte phosphofructokinase deficiency: molecular mechanism.&lt;/strong&gt; Hum. Genet. 55: 383-390, 1980.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6451572/&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;6451572&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00290222&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="6451572">Etiemble et al. (1980)</a>, <a href="#18" class="mim-tip-reference" title="Miwa, S., Sato, T., Murao, H., Kozuru, M., Ibayashi, H. &lt;strong&gt;A new type of phosphofructokinase deficiency: hereditary nonspherocytic hemolytic anemia.&lt;/strong&gt; Acta Haemat. Jpn. 35: 113-118, 1972.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4264122/&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;4264122&lt;/a&gt;]" pmid="4264122">Miwa et al. (1972)</a>, and <a href="#15" class="mim-tip-reference" title="Kahn, A., Etiemble, J., Meienhofer, M. C., Boivin, P. &lt;strong&gt;Erythrocyte phosphofructokinase deficiency associated with an unstable variant of muscle phosphofructokinase.&lt;/strong&gt; Clin. Chim. Acta 61: 415-419, 1975.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/125160/&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;125160&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0009-8981(75)90434-9&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="125160">Kahn et al. (1975)</a> reported cases of hereditary nonspherocytic hemolytic anemia associated with partial erythrocyte phosphofructokinase deficiency (about 60% of normal). Although none of the patients had muscle symptoms, studies showed that the PFKM isoform was unstable. <a href="#37" class="mim-tip-reference" title="Vora, S., Seaman, C., Durham, S., Piomelli, S. &lt;strong&gt;Isozymes of human phosphofructokinase: identification and subunit structural characterization of a new system.&lt;/strong&gt; Proc. Nat. Acad. Sci. 77: 62-66, 1980.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6444721/&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;6444721&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1073/pnas.77.1.62&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="6444721">Vora et al. (1980)</a> speculated that the heterogeneous group of hemolytic syndromes associated with partial red cell PFK deficiency without myopathy (<a href="#3" class="mim-tip-reference" title="Boulard, M. R., Bois, M., Reviron, M., Najean, Y. &lt;strong&gt;Red-cell phosphofructokinase deficiency.&lt;/strong&gt; New Eng. J. Med. 291: 978-979, 1974.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4278172/&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;4278172&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1056/nejm197410312911819&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="4278172">Boulard et al., 1974</a>; <a href="#15" class="mim-tip-reference" title="Kahn, A., Etiemble, J., Meienhofer, M. C., Boivin, P. &lt;strong&gt;Erythrocyte phosphofructokinase deficiency associated with an unstable variant of muscle phosphofructokinase.&lt;/strong&gt; Clin. Chim. Acta 61: 415-419, 1975.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/125160/&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;125160&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0009-8981(75)90434-9&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="125160">Kahn et al., 1975</a>) may represent total absence of PFKL subunits or qualitative defects of M or L subunits. <a href="#34" class="mim-tip-reference" title="Vora, S., Davidson, M., Seaman, C., Miranda, A. F., Noble, N. A., Tanaka, K. R., Frenkel, E. P., DiMauro, S. &lt;strong&gt;Heterogeneity of the molecular lesions in inherited phosphofructokinase deficiency.&lt;/strong&gt; J. Clin. Invest. 72: 1995-2006, 1983.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6227635/&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;6227635&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1172/JCI111164&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="6227635">Vora et al. (1983)</a> suggested that GSD VII could be classified clinically into 5 phenotypic subtypes: type I is the classic syndrome characterized by exertional myopathy and hemolysis; type II by isolated myopathy; type III by isolated hemolysis; and type IV by asymptomatic partial deficiency of red cell PFK. Type V could represent the rare progressive, fatal myopathy of infancy (see below). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4264122+4278172+6227635+125160+6444721+129430+6451572" 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="Hays, A. P., Hallett, M., Delfs, J., Morris, J., Sotrel, A., Shevchuk, M. M., DiMauro, S. &lt;strong&gt;Muscle phosphofructokinase deficiency: abnormal polysaccharide in a case of late-onset myopathy.&lt;/strong&gt; Neurology 31: 1077-1086, 1981.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6943439/&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;6943439&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/wnl.31.9.1077&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="6943439">Hays et al. (1981)</a> described muscle phosphofructokinase deficiency in a 61-year-old woman who had mild limb weakness all her life but no cramps or myoglobinuria. Limb weakness had worsened progressively in the previous 5 years. An abnormal polysaccharide was identified in muscle and thought to be related to a greatly elevated concentration of muscle glucose-6-phosphate, an activator of the chain-elongating enzyme glycogen synthase. <a href="#41" class="mim-tip-reference" title="Zanella, A., Mariani, M., Meola, G., Fagnani, G., Sirchia, G. &lt;strong&gt;Phosphofructokinase (PFK) deficiency due to a catalytically inactive mutant M-type subunit.&lt;/strong&gt; Am. J. Hemat. 12: 215-225, 1982.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6211089/&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;6211089&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajh.2830120303&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="6211089">Zanella et al. (1982)</a> studied a 61-year-old man of northern Italian extraction, born of consanguineous parents, who had a lifelong intolerance for prolonged exercise and developed spontaneous muscle cramps. He also had intermittent mild jaundice from the age of 46: cholecystectomy was performed for gallstones at age 51, and, at age 54, he developed anemia and marked jaundice. Creatine phosphokinase levels were greatly increased. PFK activity was absent from muscle and was 39% of normal in red cells. Biochemical studies showed that the PFKM subunit was structurally abnormal and catalytically inactive. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6211089+6943439" 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="#35" class="mim-tip-reference" title="Vora, S., DiMauro, S., Spear, D., Harker, D., Danon, M. J. &lt;strong&gt;Characterization of the enzymatic defect in late-onset muscle phosphofructokinase deficiency: new subtype of glycogen storage disease type VII.&lt;/strong&gt; J. Clin. Invest. 80: 1479-1485, 1987.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2960695/&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;2960695&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1172/JCI113229&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="2960695">Vora et al. (1987)</a> reported an 80-year-old man who presented with a 10-year history of progressive weakness of the legs as the only symptom. Residual red cell PFK showed the presence of a few M-containing isozymes in addition to the predominant L4 species, suggesting that the genetic lesion in this patient was a 'leaky' mutation of the gene coding for the M subunit. <a href="#5" class="mim-tip-reference" title="Danon, M. J., Servidei, S., DiMauro, S., Vora, S. &lt;strong&gt;Late-onset muscle phosphofructokinase deficiency.&lt;/strong&gt; Neurology 38: 956-960, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2966901/&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;2966901&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/wnl.38.6.956&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="2966901">Danon et al. (1988)</a> described a 75-year-old man with a 10-year history of slowly progressive limb weakness without cramps or myoglobinuria associated with PFKM deficiency. His asymptomatic daughter had 63% erythrocyte PFK activity. <a href="#2" class="mim-tip-reference" title="Argov, Z., Barash, V., Soffer, D., Sherman, J., Raben, N. &lt;strong&gt;Late-onset muscular weakness in phosphofructokinase deficiency due to exon 5/intron 5 junction point mutation: a unique disorder or the natural course of this glycolytic disorder?&lt;/strong&gt; Neurology 44: 1097-1100, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8208408/&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;8208408&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/wnl.44.6.1097&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="8208408">Argov et al. (1994)</a> suggested that late-onset myopathy may represent a natural course of PFK deficiency rather than a separate nosologic entity because many patients give a history of easy fatigability and exercise intolerance since childhood. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8208408+2960695+2966901" 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="#32" class="mim-tip-reference" title="Tsujino, S., Servidei, S., Tonin, P., Shanske, S., Azan, G., DiMauro, S. &lt;strong&gt;Identification of three novel mutations in non-Ashkenazi Italian patients with muscle phosphofructokinase deficiency.&lt;/strong&gt; Am. J. Hum. Genet. 54: 812-819, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7513946/&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;7513946&lt;/a&gt;]" pmid="7513946">Tsujino et al. (1994)</a> reported a 17-year-old Italian man who complained since childhood of myalgia and cramps after intense exercise. He had had no episodes of myoglobinuria. His red cell count and hemoglobin were normal, but he had reticulocytosis (6.1%), indicating compensated hemolysis. Muscle biopsy showed myopathic changes with subsarcolemmal glycogen accumulation. A brother was also affected. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7513946" 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="#19" class="mim-tip-reference" title="Nakagawa, C., Mineo, I., Kaido, M., Fujimura, H., Shimizu, T., Hamaguchi, T., Nakajima, H., Tarui, S. &lt;strong&gt;A new variant case of muscle phosphofructokinase deficiency, coexisting with gastric ulcer, gouty arthritis, and increased hemolysis.&lt;/strong&gt; Muscle Nerve 3 (Suppl): S39-S44, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7603526/&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;7603526&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/mus.880181410&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="7603526">Nakagawa et al. (1995)</a> and <a href="#13" class="mim-tip-reference" title="Hamaguchi, T., Nakajima, H., Noguchi, T., Nakagawa, C., Kuwajima, M., Kono, N., Tarui, S., Matsuzawa, Y. &lt;strong&gt;Novel missense mutation (W686C) of the phosphofructokinase-M gene in a Japanese patient with a mild form of glycogenosis VII.&lt;/strong&gt; Hum. Mutat. 8: 273-275, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8889589/&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;8889589&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/(SICI)1098-1004(1996)8:3&lt;273::AID-HUMU13&gt;3.0.CO;2-#&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="8889589">Hamaguchi et al. (1996)</a> reported a 22-year-old Japanese man with a mild form of PFKM deficiency. He was brought to medical attention because of a gastric ulcer. While treated for the ulcer, he reported a history of mild fatigability and nausea and vomiting with strenuous exercise, and recurrent gouty arthritis, but no muscle pain, cramps, or dark urine. His parents were first cousins. Exercise testing resulted in increased serum creatine kinase, mild increase in serum lactate, and increased serum uric acid. Muscle studies showed almost complete absence of PFK activity and increased glycogen content. Molecular analysis identified a mutation in the PFKM gene (<a href="/entry/610681#0008">610681.0008</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8889589+7603526" 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>Rapidly Progressive Fatal Infantile Form</em></strong></p><p>
There are rare reports of a rapidly progressive fatal infantile form of PFKM deficiency. <a href="#27" class="mim-tip-reference" title="Servidei, S., Bonilla, E., Diedrich, R. G., Kornfeld, M., Oates, J. D., Davidson, M., Vora, S., DiMauro, S. &lt;strong&gt;Fatal infantile form of muscle phosphofructokinase deficiency.&lt;/strong&gt; Neurology 36: 1465-1470, 1986.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2945125/&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;2945125&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/wnl.36.11.1465&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="2945125">Servidei et al. (1986)</a> reported an unusually severe case of PFKM deficiency. An affected girl had onset in infancy of limb weakness, seizures, cortical blindness, and corneal clouding, with death at age 7 months of respiratory failure. <a href="#1" class="mim-tip-reference" title="Amit, R., Bashan, N., Abarbanel, J. M., Shapira, Y., Sofer, S., Moses, S. &lt;strong&gt;Fatal familial infantile glycogen storage disease: multisystem phosphofructokinase deficiency.&lt;/strong&gt; Muscle Nerve 15: 455-458, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1533013/&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;1533013&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/mus.880150406&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="1533013">Amit et al. (1992)</a> described a similar case of fatal infantile glycogen storage disease with multisystem manifestations in an infant girl born of consanguineous Bedouin parents. An older brother had suffered from similar weakness and cardiomyopathy; both sibs died at the age of 21 months. Phosphofructokinase activity was lacking in both liver and muscle. <a href="#1" class="mim-tip-reference" title="Amit, R., Bashan, N., Abarbanel, J. M., Shapira, Y., Sofer, S., Moses, S. &lt;strong&gt;Fatal familial infantile glycogen storage disease: multisystem phosphofructokinase deficiency.&lt;/strong&gt; Muscle Nerve 15: 455-458, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1533013/&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;1533013&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/mus.880150406&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="1533013">Amit et al. (1992)</a> found reports of only 4 other cases (<a href="#4" class="mim-tip-reference" title="Danon, M. J., Carpenter, S., Manaligod, J. R., Schliselfeld, L. H. &lt;strong&gt;Fatal infantile glycogen storage disease: deficiency of phosphofructokinase and phosphorylase b kinase.&lt;/strong&gt; Neurology 31: 1303-1307, 1981.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6213881/&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;6213881&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/wnl.31.10.1303&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="6213881">Danon et al., 1981</a>) and 1 other family (<a href="#11" class="mim-tip-reference" title="Guibaud, P., Carrier, H., Mathieu, M., Dorche, C., Parchoux, B., Bethenod, M., Larbre, F. &lt;strong&gt;Observation familiale de dystrophie musculaire congenitale par deficit en phosphofructokinase.&lt;/strong&gt; Arch. Franc. Pediat. 35: 1105-1115, 1978.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/155429/&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;155429&lt;/a&gt;]" pmid="155429">Guibaud et al., 1978</a>), and suggested that this multisystem form of phosphofructokinase deficiency may be related to the absence of an unknown activator common to all the PFK isozymes. <a href="#22" class="mim-tip-reference" title="Raben, N., Sherman, J. B. &lt;strong&gt;Mutations in muscle phosphofructokinase gene.&lt;/strong&gt; Hum. Mutat. 6: 1-6, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7550225/&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;7550225&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/humu.1380060102&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="7550225">Raben and Sherman (1995)</a> noted that none of the patients with the rapidly progressive fatal infantile form of the disorder had evidence of hemolysis. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2945125+7550225+1533013+6213881+155429" 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>Biochemical Features</strong>
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<p><a href="#34" class="mim-tip-reference" title="Vora, S., Davidson, M., Seaman, C., Miranda, A. F., Noble, N. A., Tanaka, K. R., Frenkel, E. P., DiMauro, S. &lt;strong&gt;Heterogeneity of the molecular lesions in inherited phosphofructokinase deficiency.&lt;/strong&gt; J. Clin. Invest. 72: 1995-2006, 1983.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6227635/&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;6227635&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1172/JCI111164&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="6227635">Vora et al. (1983)</a> studied 3 patients with exertional myopathy of varying severity and a total lack of PFKM. All had high-normal hemoglobin levels despite hemolysis and early-onset hyperuricemia. In red cells, the levels of hexose monophosphates were elevated and those of 2,3-diphosphoglycerate (2,3-DPG) were depressed, causing strikingly increased hemoglobin-oxygen affinity. Residual red cell PFK consisted exclusively of L4 isozyme; however, with a monoclonal antibody, an immunoreactive M subunit was demonstrated in cultured fibroblasts. Early-onset hyperuricemia and gout occurred in this disorder as in type I glycogenosis (GSD1; <a href="/entry/232200">232200</a>). In both GSD I and GSD VII, increased shunting of fructose-6-phosphate via the hexose monophosphate shunt is proposed to result in increased production of 5-phosphoribosyl pyrophosphate (PRPP). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6227635" 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="Davidson, M., Miranda, A. F., Bender, A. N., DiMauro, S., Vora, S. &lt;strong&gt;Muscle phosphofructokinase deficiency: biochemical and immunological studies of phosphofructokinase isozymes in muscle culture.&lt;/strong&gt; J. Clin. Invest. 72: 545-550, 1983.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6223943/&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;6223943&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1172/JCI111002&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="6223943">Davidson et al. (1983)</a> demonstrated immunoreactive M subunits of PFK despite a lack of enzyme activity in 3 cases of muscle phosphofructokinase deficiency. The findings suggested that the disease mutation is in the structural gene for the M subunit of PFK. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6223943" 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="#17" class="mim-tip-reference" title="Mineo, I., Kono, N., Hara, N., Shimizu, T., Yamada, Y., Kawachi, M., Kiyokawa, H., Wang, Y. L., Tarui, S. &lt;strong&gt;Myogenic hyperuricemia: a common pathophysiologic feature of glycogenosis types III, V, and VII.&lt;/strong&gt; New Eng. J. Med. 317: 75-80, 1987.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3473284/&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;3473284&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1056/NEJM198707093170203&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="3473284">Mineo et al. (1987)</a> provided an explanation for the hyperuricemia of GSD type VII. In the disorder, there is a net degradation of ATP and an accumulation of ADP or AMP. These accumulated adenine nucleotides are then degraded at a more rapid rate to several purine metabolites, including uric acid. A similar mechanism may explain the reports of uric acid nephropathy after heavy exertion and the association between ethanol ingestion and hyperuricemia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3473284" 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>Some patients with PFKM deficiency have reported that fatigue of active muscles occurs more rapidly after a high-carbohydrate meal. In 4 such patients, <a href="#12" class="mim-tip-reference" title="Haller, R. G., Lewis, S. F. &lt;strong&gt;Glucose-induced exertional fatigue in muscle phosphofructokinase deficiency.&lt;/strong&gt; New Eng. J. Med. 324: 364-369, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1824792/&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;1824792&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1056/NEJM199102073240603&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="1824792">Haller and Lewis (1991)</a> observed that the oxidative capacity of muscle and the capacity for aerobic exercise varied according to the availability of blood-borne fuels. The authors concluded that glucose infusion lowers exercise tolerance by inhibiting lipolysis and thus depriving muscle of oxidative substrate (plasma free fatty acids and ketones); this impairs the capacity of working muscle to extract oxygen and lowers maximal oxygen consumption. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1824792" 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="#25" class="mim-tip-reference" title="Ristow, M., Vorgerd, M., Mohlig, M., Schatz, H., Pfeiffer, A. &lt;strong&gt;Deficiency of phosphofructo-1-kinase/muscle subtype in humans impairs insulin secretion and causes insulin resistance.&lt;/strong&gt; J. Clin. Invest. 100: 2833-2841, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9389749/&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;9389749&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1172/JCI119831&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="9389749">Ristow et al. (1997)</a> studied 4 members (2 parents and 2 sons) of an Ashkenazi Jewish family with Tarui disease reported by <a href="#38" class="mim-tip-reference" title="Vorgerd, M., Karitzky, J., Ristow, M., Van Schaftingen, E., Tegenthoff, M., Jerusalem, F., Malin, J. P. &lt;strong&gt;Muscle phosphofructokinase deficiency in two generations.&lt;/strong&gt; J. Neurol. Sci. 141: 95-99, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8880699/&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;8880699&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0022-510x(96)00131-1&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="8880699">Vorgerd et al. (1996)</a>. Both the father and the older son reported early fatigue with exercise from early childhood, whereas the mother and younger son were asymptomatic. In addition, the father had typical diabetic background retinopathy and the older son reported an episode of insulin treatment during hepatitis A infection. The father and older son were compound heterozygotes for 2 PFKM mutations, whereas the mother and the younger son were heterozygous for a PFKM mutation (see <a href="/entry/610681#0009">610681.0009</a>). The father showed impaired glucose tolerance and the mother showed noninsulin-dependent diabetes mellitus (NIDDM; <a href="/entry/125853">125853</a>). By intravenous glucose tolerance tests, both parents and the older son had decreased first-phase insulin secretion and a diminished glucose disappearance rate. The insulin-sensitivity test (IST) using octreotide showed marked insulin resistance in both parents and in the older, homozygous son, and moderate resistance in the younger son. <a href="#25" class="mim-tip-reference" title="Ristow, M., Vorgerd, M., Mohlig, M., Schatz, H., Pfeiffer, A. &lt;strong&gt;Deficiency of phosphofructo-1-kinase/muscle subtype in humans impairs insulin secretion and causes insulin resistance.&lt;/strong&gt; J. Clin. Invest. 100: 2833-2841, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9389749/&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;9389749&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1172/JCI119831&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="9389749">Ristow et al. (1997)</a> concluded that PFKM deficiency can cause impaired insulin secretion in response to glucose, demonstrating its participation in islet glucose metabolism and peripheral insulin resistance. These combined metabolic sequelae of PFKM deficiency identified PFMK as a candidate gene predisposing to NIDDM. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9389749+8880699" 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="molecularGenetics" class="mim-anchor"></a>
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<strong>Molecular Genetics</strong>
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<p>In 1 of the original Japanese patients with glycogen storage disease type VII reported by <a href="#31" class="mim-tip-reference" title="Tarui, S., Okuno, G., Ikura, Y., Tanaka, T., Suda, M., Nishikawa, M. &lt;strong&gt;Phosphofructokinase deficiency in skeletal muscle: a new type of glycogenosis.&lt;/strong&gt; Biochem. Biophys. Res. Commun. 19: 517-523, 1965.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/14339001/&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;14339001&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0006-291x(65)90156-7&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="14339001">Tarui et al. (1965)</a>, <a href="#20" class="mim-tip-reference" title="Nakajima, H., Kono, N., Yamasaki, T., Hotta, K., Kawachi, M., Kuwajima, M., Noguchi, T., Tanaka, T., Tarui, S. &lt;strong&gt;Genetic defect in muscle phosphofructokinase deficiency: abnormal splicing of the muscle phosphofructokinase gene due to a point mutation at the 5-prime-splice site.&lt;/strong&gt; J. Biol. Chem. 265: 9392-9395, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2140573/&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;2140573&lt;/a&gt;]" pmid="2140573">Nakajima et al. (1990)</a> identified a homozygous mutation in the PFKM gene (<a href="/entry/610681#0001">610681.0001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=14339001+2140573" 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 2 Ashkenazi Jewish sisters with GSD VII, <a href="#23" class="mim-tip-reference" title="Raben, N., Sherman, J., Miller, F., Mena, H., Plotz, P. &lt;strong&gt;A 5-prime splice junction mutation leading to exon deletion in an Ashkenazic Jewish family with phosphofructokinase deficiency (Tarui disease).&lt;/strong&gt; J. Biol. Chem. 268: 4963-4967, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8444874/&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;8444874&lt;/a&gt;]" pmid="8444874">Raben et al. (1993)</a> identified a homozygous splice site mutation in the PFKM gene resulting in the deletion of exon 5 (<a href="/entry/610681#0005">610681.0005</a>). <a href="#28" class="mim-tip-reference" title="Sherman, J. B., Raben, N., Nicastri, C., Argov, Z., Nakajima, H., Adams, E. M., Eng, C. M., Cowan, T. M., Plotz, P. H. &lt;strong&gt;Common mutations in the phosphofructokinase-M gene in Ashkenazi Jewish patients with glycogenesis (sic) VII--and their population frequency.&lt;/strong&gt; Am. J. Hum. Genet. 55: 305-313, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8037209/&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;8037209&lt;/a&gt;]" pmid="8037209">Sherman et al. (1994)</a> identified the exon 5 deletion mutation in 11 (61%) of 18 abnormal alleles in 9 Ashkenazi Jewish families with GSD VII, making it as the most common PFKM mutation in this population. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8444874+8037209" 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 4 Italian patients, including 2 brothers, with GSD VII, <a href="#32" class="mim-tip-reference" title="Tsujino, S., Servidei, S., Tonin, P., Shanske, S., Azan, G., DiMauro, S. &lt;strong&gt;Identification of three novel mutations in non-Ashkenazi Italian patients with muscle phosphofructokinase deficiency.&lt;/strong&gt; Am. J. Hum. Genet. 54: 812-819, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7513946/&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;7513946&lt;/a&gt;]" pmid="7513946">Tsujino et al. (1994)</a> identified 3 novel mutations in the PFKM gene (<a href="/entry/610681#0002">610681.0002</a>-<a href="/entry/610681#0004">610681.0004</a>). The authors emphasized that these patients were not of Ashkenazi Jewish descent. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7513946" 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="#22" class="mim-tip-reference" title="Raben, N., Sherman, J. B. &lt;strong&gt;Mutations in muscle phosphofructokinase gene.&lt;/strong&gt; Hum. Mutat. 6: 1-6, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7550225/&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;7550225&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/humu.1380060102&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="7550225">Raben and Sherman (1995)</a> tabulated 15 GSD VII disease-inducing mutations of the PFKM gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7550225" 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 22-year-old Japanese man, born of consanguineous parents, with a mild form of GSD VII, <a href="#19" class="mim-tip-reference" title="Nakagawa, C., Mineo, I., Kaido, M., Fujimura, H., Shimizu, T., Hamaguchi, T., Nakajima, H., Tarui, S. &lt;strong&gt;A new variant case of muscle phosphofructokinase deficiency, coexisting with gastric ulcer, gouty arthritis, and increased hemolysis.&lt;/strong&gt; Muscle Nerve 3 (Suppl): S39-S44, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7603526/&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;7603526&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/mus.880181410&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="7603526">Nakagawa et al. (1995)</a> and <a href="#13" class="mim-tip-reference" title="Hamaguchi, T., Nakajima, H., Noguchi, T., Nakagawa, C., Kuwajima, M., Kono, N., Tarui, S., Matsuzawa, Y. &lt;strong&gt;Novel missense mutation (W686C) of the phosphofructokinase-M gene in a Japanese patient with a mild form of glycogenosis VII.&lt;/strong&gt; Hum. Mutat. 8: 273-275, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8889589/&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;8889589&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/(SICI)1098-1004(1996)8:3&lt;273::AID-HUMU13&gt;3.0.CO;2-#&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="8889589">Hamaguchi et al. (1996)</a> identified a homozygous mutation in the PFKM gene (<a href="/entry/610681#0008">610681.0008</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8889589+7603526" 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="populationGenetics" class="mim-anchor"></a>
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<strong>Population Genetics</strong>
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<p><a href="#22" class="mim-tip-reference" title="Raben, N., Sherman, J. B. &lt;strong&gt;Mutations in muscle phosphofructokinase gene.&lt;/strong&gt; Hum. Mutat. 6: 1-6, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7550225/&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;7550225&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/humu.1380060102&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="7550225">Raben and Sherman (1995)</a> tabulated 15 GSD VII disease-inducing mutations of the PFKM gene and noted that the disorder is especially prevalent among people of Ashkenazi Jewish descent. The authors found that the frequent exon 5 splicing defect (<a href="/entry/610681#0005">610681.0005</a>) accounted for approximately 68% of mutant alleles in Ashkenazim. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7550225" 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="#9" class="mim-tip-reference" title="Giger, U., Harvey, J. W., Yamaguchi, R. A., McNulty, P. K., Chiapella, A., Beutler, E. &lt;strong&gt;Inherited phosphofructokinase deficiency in dogs with hyperventilation-induced hemolysis: increased in vitro and in vivo alkaline fragility of erythrocytes.&lt;/strong&gt; Blood 65: 345-351, 1985.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3155631/&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;3155631&lt;/a&gt;]" pmid="3155631">Giger et al. (1985)</a> and <a href="#36" class="mim-tip-reference" title="Vora, S., Giger, U., Turchen, S., Harvey, J. W. &lt;strong&gt;Characterization of the enzymatic lesion in inherited phosphofructokinase deficiency in the dog: an animal analogue of human glycogen storage disease type VII.&lt;/strong&gt; Proc. Nat. Acad. Sci. 82: 8109-8113, 1985.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2933748/&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;2933748&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1073/pnas.82.23.8109&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="2933748">Vora et al. (1985)</a> reported naturally occurring Pfkm deficiency in English springer spaniel dogs. The dogs had a history of chronic hemolytic anemia and sporadic hemolytic crises. Induced hyperventilation resulted in hemoglobinuria and severe bilirubinemia. Erythrocytes showed increased erythrocyte alkaline fragility, and erythrocyte 2,3-diphosphoglycerate content was reduced. Pfkm levels were 10% of normal controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2933748+3155631" 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="#10" class="mim-tip-reference" title="Giger, U., Smith, B. F., Woods, C. B., Patterson, D. F., Stedman, H. &lt;strong&gt;Inherited phosphofructokinase deficiency in an American cocker spaniel.&lt;/strong&gt; J. Am. Vet. Med. Assoc. 201: 1569-1571, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1289336/&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;1289336&lt;/a&gt;]" pmid="1289336">Giger et al. (1992)</a> reported Pfkm deficiency in an American cocker spaniel. <a href="#29" class="mim-tip-reference" title="Smith, B. F., Stedman, H., Rajpurohit, Y., Henthorn, P. S., Wolfe, J. H., Patterson, D. F., Giger, U. &lt;strong&gt;Molecular basis of canine muscle type phosphofructokinase deficiency.&lt;/strong&gt; J. Biol. Chem. 271: 20070-20074, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8702726/&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;8702726&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1074/jbc.271.33.20070&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="8702726">Smith et al. (1996)</a> determined that canine Pfkm deficiency is caused by a nonsense mutation in the canine Pfkm gene, leading to rapid degradation of a truncated protein and loss of enzyme activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8702726+1289336" 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="seeAlso" class="mim-anchor"></a>
<h4 href="#mimSeeAlsoFold" id="mimSeeAlsoToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<strong>See Also:</strong>
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<a href="#Nishikawa1965" class="mim-tip-reference" title="Nishikawa, M., Tsukiyama, K., Enomoto, T., Tarui, S., Okuno, G., Ueda, K., Ikura, T., Tsujii, T., Sugase, T., Suda, M., Tanaka, T. &lt;strong&gt;A new type of skeletal muscle glycogenosis due to phosphofructokinase deficiency.&lt;/strong&gt; Proc. Jpn. Acad. 41: 350-353, 1965.">Nishikawa et al. (1965)</a>; <a href="#Raben1993" class="mim-tip-reference" title="Raben, N., Sherman, J., Nicastri, C., Adams, E., Argov, Z., Nakajima, H., Plotz, P. &lt;strong&gt;A limited number of mutations in the phosphofructokinase gene in Ashkenazi Jewish patients with glycogenosis VII (Tarui disease). (Abstract)&lt;/strong&gt; Am. J. Hum. Genet. 53 (suppl.): A942, 1993.">Raben et al. (1993)</a>; <a href="#Yamasaki1991" class="mim-tip-reference" title="Yamasaki,, Nakajima, H., Kono, N., Hotta, K., Yamada, K., Imai, E., Kuwajima, M., Noguchi, T., Tanaka, T., Tarui, S. &lt;strong&gt;Structure of the entire human muscle phosphofructokinase-encoding gene: a two-promoter system.&lt;/strong&gt; Gene 104: 277-282, 1991.">Yamasaki et al. (1991)</a>
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<a id="references"class="mim-anchor"></a>
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<strong>REFERENCES</strong>
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<a id="1" class="mim-anchor"></a>
<a id="Amit1992" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Amit, R., Bashan, N., Abarbanel, J. M., Shapira, Y., Sofer, S., Moses, S.
<strong>Fatal familial infantile glycogen storage disease: multisystem phosphofructokinase deficiency.</strong>
Muscle Nerve 15: 455-458, 1992.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1533013/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1533013</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1533013" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/mus.880150406" target="_blank">Full Text</a>]
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<a id="2" class="mim-anchor"></a>
<a id="Argov1994" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Argov, Z., Barash, V., Soffer, D., Sherman, J., Raben, N.
<strong>Late-onset muscular weakness in phosphofructokinase deficiency due to exon 5/intron 5 junction point mutation: a unique disorder or the natural course of this glycolytic disorder?</strong>
Neurology 44: 1097-1100, 1994.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8208408/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8208408</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8208408" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1212/wnl.44.6.1097" target="_blank">Full Text</a>]
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<a id="3" class="mim-anchor"></a>
<a id="Boulard1974" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Boulard, M. R., Bois, M., Reviron, M., Najean, Y.
<strong>Red-cell phosphofructokinase deficiency.</strong>
New Eng. J. Med. 291: 978-979, 1974.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4278172/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4278172</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4278172" 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/nejm197410312911819" target="_blank">Full Text</a>]
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<a id="4" class="mim-anchor"></a>
<a id="Danon1981" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Danon, M. J., Carpenter, S., Manaligod, J. R., Schliselfeld, L. H.
<strong>Fatal infantile glycogen storage disease: deficiency of phosphofructokinase and phosphorylase b kinase.</strong>
Neurology 31: 1303-1307, 1981.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6213881/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6213881</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6213881" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1212/wnl.31.10.1303" target="_blank">Full Text</a>]
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<a id="5" class="mim-anchor"></a>
<a id="Danon1988" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Danon, M. J., Servidei, S., DiMauro, S., Vora, S.
<strong>Late-onset muscle phosphofructokinase deficiency.</strong>
Neurology 38: 956-960, 1988.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2966901/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2966901</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2966901" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1212/wnl.38.6.956" target="_blank">Full Text</a>]
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<a id="6" class="mim-anchor"></a>
<a id="Davidson1983" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Davidson, M., Miranda, A. F., Bender, A. N., DiMauro, S., Vora, S.
<strong>Muscle phosphofructokinase deficiency: biochemical and immunological studies of phosphofructokinase isozymes in muscle culture.</strong>
J. Clin. Invest. 72: 545-550, 1983.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6223943/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6223943</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6223943" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1172/JCI111002" target="_blank">Full Text</a>]
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<a id="7" class="mim-anchor"></a>
<a id="Etiemble1976" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Etiemble, J., Kahn, A., Boivin, P., Bernard, J. F., Goudemand, M.
<strong>Hereditary hemolytic anemia with erythrocyte phosphofructokinase deficiency.</strong>
Hum. Genet. 31: 83-91, 1976.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/129430/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">129430</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=129430" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/BF00270403" target="_blank">Full Text</a>]
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<a id="8" class="mim-anchor"></a>
<a id="Etiemble1980" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Etiemble, J., Picat, C., Simeon, J., Blatrix, C., Boivin, P.
<strong>Inherited erythrocyte phosphofructokinase deficiency: molecular mechanism.</strong>
Hum. Genet. 55: 383-390, 1980.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6451572/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6451572</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6451572" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/BF00290222" target="_blank">Full Text</a>]
</p>
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<a id="9" class="mim-anchor"></a>
<a id="Giger1985" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Giger, U., Harvey, J. W., Yamaguchi, R. A., McNulty, P. K., Chiapella, A., Beutler, E.
<strong>Inherited phosphofructokinase deficiency in dogs with hyperventilation-induced hemolysis: increased in vitro and in vivo alkaline fragility of erythrocytes.</strong>
Blood 65: 345-351, 1985.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3155631/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3155631</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3155631" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
</div>
</li>
<li>
<a id="10" class="mim-anchor"></a>
<a id="Giger1992" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Giger, U., Smith, B. F., Woods, C. B., Patterson, D. F., Stedman, H.
<strong>Inherited phosphofructokinase deficiency in an American cocker spaniel.</strong>
J. Am. Vet. Med. Assoc. 201: 1569-1571, 1992.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1289336/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1289336</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1289336" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
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<a id="11" class="mim-anchor"></a>
<a id="Guibaud1978" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Guibaud, P., Carrier, H., Mathieu, M., Dorche, C., Parchoux, B., Bethenod, M., Larbre, F.
<strong>Observation familiale de dystrophie musculaire congenitale par deficit en phosphofructokinase.</strong>
Arch. Franc. Pediat. 35: 1105-1115, 1978.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/155429/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">155429</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=155429" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
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<a id="12" class="mim-anchor"></a>
<a id="Haller1991" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Haller, R. G., Lewis, S. F.
<strong>Glucose-induced exertional fatigue in muscle phosphofructokinase deficiency.</strong>
New Eng. J. Med. 324: 364-369, 1991.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1824792/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1824792</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1824792" 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/NEJM199102073240603" target="_blank">Full Text</a>]
</p>
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<a id="Hamaguchi1996" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Hamaguchi, T., Nakajima, H., Noguchi, T., Nakagawa, C., Kuwajima, M., Kono, N., Tarui, S., Matsuzawa, Y.
<strong>Novel missense mutation (W686C) of the phosphofructokinase-M gene in a Japanese patient with a mild form of glycogenosis VII.</strong>
Hum. Mutat. 8: 273-275, 1996.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8889589/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8889589</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8889589" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/(SICI)1098-1004(1996)8:3&lt;273::AID-HUMU13&gt;3.0.CO;2-#" target="_blank">Full Text</a>]
</p>
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<a id="14" class="mim-anchor"></a>
<a id="Hays1981" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Hays, A. P., Hallett, M., Delfs, J., Morris, J., Sotrel, A., Shevchuk, M. M., DiMauro, S.
<strong>Muscle phosphofructokinase deficiency: abnormal polysaccharide in a case of late-onset myopathy.</strong>
Neurology 31: 1077-1086, 1981.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6943439/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6943439</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6943439" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1212/wnl.31.9.1077" target="_blank">Full Text</a>]
</p>
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<a id="15" class="mim-anchor"></a>
<a id="Kahn1975" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Kahn, A., Etiemble, J., Meienhofer, M. C., Boivin, P.
<strong>Erythrocyte phosphofructokinase deficiency associated with an unstable variant of muscle phosphofructokinase.</strong>
Clin. Chim. Acta 61: 415-419, 1975.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/125160/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">125160</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=125160" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/0009-8981(75)90434-9" target="_blank">Full Text</a>]
</p>
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<a id="Layzer1967" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Layzer, R. B., Rowland, L. P., Ranney, H. M.
<strong>Muscle phosphofructokinase deficiency.</strong>
Arch. Neurol. 17: 512-523, 1967.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4228297/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4228297</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4228297" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1001/archneur.1967.00470290066009" target="_blank">Full Text</a>]
</p>
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<a id="Mineo1987" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Mineo, I., Kono, N., Hara, N., Shimizu, T., Yamada, Y., Kawachi, M., Kiyokawa, H., Wang, Y. L., Tarui, S.
<strong>Myogenic hyperuricemia: a common pathophysiologic feature of glycogenosis types III, V, and VII.</strong>
New Eng. J. Med. 317: 75-80, 1987.
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[<a href="https://doi.org/10.1056/NEJM198707093170203" target="_blank">Full Text</a>]
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<strong>A new type of phosphofructokinase deficiency: hereditary nonspherocytic hemolytic anemia.</strong>
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<strong>A new variant case of muscle phosphofructokinase deficiency, coexisting with gastric ulcer, gouty arthritis, and increased hemolysis.</strong>
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[<a href="https://doi.org/10.1002/mus.880181410" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/humu.1380060102" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1172/JCI119831" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1001/archneur.1967.00470270026004" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1212/wnl.36.11.1465" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1074/jbc.271.33.20070" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajh.2830140208" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0006-291x(65)90156-7" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1172/JCI111164" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1172/JCI113229" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1073/pnas.82.23.8109" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1073/pnas.77.1.62" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0022-510x(96)00131-1" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0378-1119(91)90262-a" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajh.2830120303" target="_blank">Full Text</a>]
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Cassandra L. Kniffin - reorganized : 3/8/2007
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Cassandra L. Kniffin - updated : 2/26/2007<br>Victor A. McKusick - updated : 7/7/1998<br>Victor A. McKusick - updated : 1/15/1998<br>Victor A. McKusick - updated : 8/12/1997
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Victor A. McKusick : 6/3/1986
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alopez : 09/15/2016
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carol : 05/08/2014<br>mcolton : 4/28/2014<br>carol : 4/17/2007<br>carol : 3/8/2007<br>carol : 3/8/2007<br>ckniffin : 2/26/2007<br>carol : 5/31/2005<br>alopez : 3/17/2004<br>carol : 7/9/1998<br>terry : 7/7/1998<br>terry : 6/4/1998<br>dholmes : 1/26/1998<br>mark : 1/19/1998<br>terry : 1/15/1998<br>mark : 8/15/1997<br>terry : 8/12/1997<br>terry : 11/6/1996<br>terry : 10/31/1996<br>terry : 6/5/1996<br>terry : 6/3/1996<br>terry : 4/18/1996<br>mark : 11/10/1995<br>terry : 11/6/1995<br>jason : 7/25/1994<br>mimadm : 2/19/1994<br>carol : 3/20/1993<br>carol : 2/24/1993
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<strong>#</strong> 232800
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<span class="mim-font">
GLYCOGEN STORAGE DISEASE VII; GSD7
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<em>Alternative titles; symbols</em>
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GSD VII<br />
MUSCLE PHOSPHOFRUCTOKINASE DEFICIENCY<br />
PFKM DEFICIENCY<br />
TARUI DISEASE
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<strong>SNOMEDCT:</strong> 89597008; &nbsp;
<strong>ICD10CM:</strong> E74.09; &nbsp;
<strong>ORPHA:</strong> 371; &nbsp;
<strong>DO:</strong> 11721; &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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12q13.11
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Glycogen storage disease VII
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232800
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Autosomal recessive
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3
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PFKM
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610681
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because glycogen storage disease VII (GSD7) is caused by homozygous or compound heterozygous mutation in the PFKM gene (610681), which encodes muscle phosphofructokinase, on chromosome 12q13.</p>
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<strong>Description</strong>
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<p>Glycogen storage disease VII is an autosomal recessive metabolic disorder characterized clinically by exercise intolerance, muscle cramping, exertional myopathy, and compensated hemolysis. Myoglobinuria may also occur. The deficiency of the muscle isoform of PFK results in a total and partial loss of muscle and red cell PFK activity, respectively. Raben and Sherman (1995) noted that not all patients with GSD VII seek medical care because in some cases it is a relatively mild disorder. </p>
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<strong>Clinical Features</strong>
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<p>Tarui et al. (1965) first described this disorder in 3 affected Japanese sibs, a 20-year-old female and 23- and 27-year-old males. The parents were first cousins. The affected sibs complained of easy fatigability and inability to keep pace with other persons. Physical examination revealed marked weakness and stiffness in muscle groups subjected to vigorous or prolonged exertion. Venous lactate failed to rise with the ischemic exercise test; 1 sib had myoglobinuria following the test. PFK activity was entirely absent in muscle and about half normal in erythrocytes. </p><p>Layzer et al. (1967) reported an 18-year-old male with muscle PFK deficiency and red cell hemolysis. The erythrocytes of both unaffected parents showed partial enzyme activity. Layzer et al. (1967) suggested that red cell PFK is composed of 2 types of subunits, 1 of which is the sole subunit present in muscle PFK. The authors concluded that the genetic defect likely involves a subunit common to both the muscle and the red cell enzyme, and furthermore postulated autosomal recessive inheritance. </p><p>Satoyoshi and Kowa (1967) described myopathy in 2 affected brothers. Family history revealed that myopathy was also present in a sister, their mother, and a son of 1 sister. Onset was about age 35 years with delayed muscle pain and stiffness on exertion, but absence of contracture or weakness on ischemic exercise. Phosphofructokinase activity was about 40% of normal in skeletal muscle. Oral ingestion of fructose relieved the symptoms. Satoyoshi and Kowa (1967) suggested the possible role of an inhibitor in the disease process. Waterbury and Frenkel (1972) found an intermediate level (60% of normal) of the PFK enzyme in the red cells of a physician with chronic compensated hemolysis and in his mother and grandmother who lacked evidence of hemolysis. The proband had 9% reticulocytes. PFK of the proband showed markedly increased lability on in vitro studies. The absence of muscle disease was atypical of the usual phenotype associated with type VII glycogen storage disease. </p><p>Vora et al. (1980) studied a patient with the rare Tarui disease, in which myopathy and hemolysis are associated with PFK deficiency. The proband was a 31-year-old man who suffered from muscular weakness and myoglobinuria on exertion. He showed mild erythrocytosis despite laboratory evidence of hemolysis. His red cell PFK was exclusively of the L (liver) type (PFKL; 171860). Decreased production of 2,3-DPG was held responsible for the paradoxic erythrocytosis. </p><p>Tani et al. (1983) studied 2 unrelated Japanese kindreds with PFKM deficiency associated with congenital nonspherocytic hemolytic anemia and mild myopathy. Both probands had jaundice, gallstones, and slight to moderate exercise intolerance. Both also had decreased red cell PFK activity and no increase of blood lactate during ischemic exercise testing. Electrophoresis of red cell PFK showed complete absence of the PFK muscle isozyme. </p><p>Etiemble et al. (1976), Etiemble et al. (1980), Miwa et al. (1972), and Kahn et al. (1975) reported cases of hereditary nonspherocytic hemolytic anemia associated with partial erythrocyte phosphofructokinase deficiency (about 60% of normal). Although none of the patients had muscle symptoms, studies showed that the PFKM isoform was unstable. Vora et al. (1980) speculated that the heterogeneous group of hemolytic syndromes associated with partial red cell PFK deficiency without myopathy (Boulard et al., 1974; Kahn et al., 1975) may represent total absence of PFKL subunits or qualitative defects of M or L subunits. Vora et al. (1983) suggested that GSD VII could be classified clinically into 5 phenotypic subtypes: type I is the classic syndrome characterized by exertional myopathy and hemolysis; type II by isolated myopathy; type III by isolated hemolysis; and type IV by asymptomatic partial deficiency of red cell PFK. Type V could represent the rare progressive, fatal myopathy of infancy (see below). </p><p>Hays et al. (1981) described muscle phosphofructokinase deficiency in a 61-year-old woman who had mild limb weakness all her life but no cramps or myoglobinuria. Limb weakness had worsened progressively in the previous 5 years. An abnormal polysaccharide was identified in muscle and thought to be related to a greatly elevated concentration of muscle glucose-6-phosphate, an activator of the chain-elongating enzyme glycogen synthase. Zanella et al. (1982) studied a 61-year-old man of northern Italian extraction, born of consanguineous parents, who had a lifelong intolerance for prolonged exercise and developed spontaneous muscle cramps. He also had intermittent mild jaundice from the age of 46: cholecystectomy was performed for gallstones at age 51, and, at age 54, he developed anemia and marked jaundice. Creatine phosphokinase levels were greatly increased. PFK activity was absent from muscle and was 39% of normal in red cells. Biochemical studies showed that the PFKM subunit was structurally abnormal and catalytically inactive. </p><p>Vora et al. (1987) reported an 80-year-old man who presented with a 10-year history of progressive weakness of the legs as the only symptom. Residual red cell PFK showed the presence of a few M-containing isozymes in addition to the predominant L4 species, suggesting that the genetic lesion in this patient was a 'leaky' mutation of the gene coding for the M subunit. Danon et al. (1988) described a 75-year-old man with a 10-year history of slowly progressive limb weakness without cramps or myoglobinuria associated with PFKM deficiency. His asymptomatic daughter had 63% erythrocyte PFK activity. Argov et al. (1994) suggested that late-onset myopathy may represent a natural course of PFK deficiency rather than a separate nosologic entity because many patients give a history of easy fatigability and exercise intolerance since childhood. </p><p>Tsujino et al. (1994) reported a 17-year-old Italian man who complained since childhood of myalgia and cramps after intense exercise. He had had no episodes of myoglobinuria. His red cell count and hemoglobin were normal, but he had reticulocytosis (6.1%), indicating compensated hemolysis. Muscle biopsy showed myopathic changes with subsarcolemmal glycogen accumulation. A brother was also affected. </p><p>Nakagawa et al. (1995) and Hamaguchi et al. (1996) reported a 22-year-old Japanese man with a mild form of PFKM deficiency. He was brought to medical attention because of a gastric ulcer. While treated for the ulcer, he reported a history of mild fatigability and nausea and vomiting with strenuous exercise, and recurrent gouty arthritis, but no muscle pain, cramps, or dark urine. His parents were first cousins. Exercise testing resulted in increased serum creatine kinase, mild increase in serum lactate, and increased serum uric acid. Muscle studies showed almost complete absence of PFK activity and increased glycogen content. Molecular analysis identified a mutation in the PFKM gene (610681.0008). </p><p><strong><em>Rapidly Progressive Fatal Infantile Form</em></strong></p><p>
There are rare reports of a rapidly progressive fatal infantile form of PFKM deficiency. Servidei et al. (1986) reported an unusually severe case of PFKM deficiency. An affected girl had onset in infancy of limb weakness, seizures, cortical blindness, and corneal clouding, with death at age 7 months of respiratory failure. Amit et al. (1992) described a similar case of fatal infantile glycogen storage disease with multisystem manifestations in an infant girl born of consanguineous Bedouin parents. An older brother had suffered from similar weakness and cardiomyopathy; both sibs died at the age of 21 months. Phosphofructokinase activity was lacking in both liver and muscle. Amit et al. (1992) found reports of only 4 other cases (Danon et al., 1981) and 1 other family (Guibaud et al., 1978), and suggested that this multisystem form of phosphofructokinase deficiency may be related to the absence of an unknown activator common to all the PFK isozymes. Raben and Sherman (1995) noted that none of the patients with the rapidly progressive fatal infantile form of the disorder had evidence of hemolysis. </p>
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<strong>Biochemical Features</strong>
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<p>Vora et al. (1983) studied 3 patients with exertional myopathy of varying severity and a total lack of PFKM. All had high-normal hemoglobin levels despite hemolysis and early-onset hyperuricemia. In red cells, the levels of hexose monophosphates were elevated and those of 2,3-diphosphoglycerate (2,3-DPG) were depressed, causing strikingly increased hemoglobin-oxygen affinity. Residual red cell PFK consisted exclusively of L4 isozyme; however, with a monoclonal antibody, an immunoreactive M subunit was demonstrated in cultured fibroblasts. Early-onset hyperuricemia and gout occurred in this disorder as in type I glycogenosis (GSD1; 232200). In both GSD I and GSD VII, increased shunting of fructose-6-phosphate via the hexose monophosphate shunt is proposed to result in increased production of 5-phosphoribosyl pyrophosphate (PRPP). </p><p>Davidson et al. (1983) demonstrated immunoreactive M subunits of PFK despite a lack of enzyme activity in 3 cases of muscle phosphofructokinase deficiency. The findings suggested that the disease mutation is in the structural gene for the M subunit of PFK. </p><p>Mineo et al. (1987) provided an explanation for the hyperuricemia of GSD type VII. In the disorder, there is a net degradation of ATP and an accumulation of ADP or AMP. These accumulated adenine nucleotides are then degraded at a more rapid rate to several purine metabolites, including uric acid. A similar mechanism may explain the reports of uric acid nephropathy after heavy exertion and the association between ethanol ingestion and hyperuricemia. </p><p>Some patients with PFKM deficiency have reported that fatigue of active muscles occurs more rapidly after a high-carbohydrate meal. In 4 such patients, Haller and Lewis (1991) observed that the oxidative capacity of muscle and the capacity for aerobic exercise varied according to the availability of blood-borne fuels. The authors concluded that glucose infusion lowers exercise tolerance by inhibiting lipolysis and thus depriving muscle of oxidative substrate (plasma free fatty acids and ketones); this impairs the capacity of working muscle to extract oxygen and lowers maximal oxygen consumption. </p><p>Ristow et al. (1997) studied 4 members (2 parents and 2 sons) of an Ashkenazi Jewish family with Tarui disease reported by Vorgerd et al. (1996). Both the father and the older son reported early fatigue with exercise from early childhood, whereas the mother and younger son were asymptomatic. In addition, the father had typical diabetic background retinopathy and the older son reported an episode of insulin treatment during hepatitis A infection. The father and older son were compound heterozygotes for 2 PFKM mutations, whereas the mother and the younger son were heterozygous for a PFKM mutation (see 610681.0009). The father showed impaired glucose tolerance and the mother showed noninsulin-dependent diabetes mellitus (NIDDM; 125853). By intravenous glucose tolerance tests, both parents and the older son had decreased first-phase insulin secretion and a diminished glucose disappearance rate. The insulin-sensitivity test (IST) using octreotide showed marked insulin resistance in both parents and in the older, homozygous son, and moderate resistance in the younger son. Ristow et al. (1997) concluded that PFKM deficiency can cause impaired insulin secretion in response to glucose, demonstrating its participation in islet glucose metabolism and peripheral insulin resistance. These combined metabolic sequelae of PFKM deficiency identified PFMK as a candidate gene predisposing to NIDDM. </p>
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<h4>
<span class="mim-font">
<strong>Molecular Genetics</strong>
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<p>In 1 of the original Japanese patients with glycogen storage disease type VII reported by Tarui et al. (1965), Nakajima et al. (1990) identified a homozygous mutation in the PFKM gene (610681.0001). </p><p>In 2 Ashkenazi Jewish sisters with GSD VII, Raben et al. (1993) identified a homozygous splice site mutation in the PFKM gene resulting in the deletion of exon 5 (610681.0005). Sherman et al. (1994) identified the exon 5 deletion mutation in 11 (61%) of 18 abnormal alleles in 9 Ashkenazi Jewish families with GSD VII, making it as the most common PFKM mutation in this population. </p><p>In 4 Italian patients, including 2 brothers, with GSD VII, Tsujino et al. (1994) identified 3 novel mutations in the PFKM gene (610681.0002-610681.0004). The authors emphasized that these patients were not of Ashkenazi Jewish descent. </p><p>Raben and Sherman (1995) tabulated 15 GSD VII disease-inducing mutations of the PFKM gene. </p><p>In a 22-year-old Japanese man, born of consanguineous parents, with a mild form of GSD VII, Nakagawa et al. (1995) and Hamaguchi et al. (1996) identified a homozygous mutation in the PFKM gene (610681.0008). </p>
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<strong>Population Genetics</strong>
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<p>Raben and Sherman (1995) tabulated 15 GSD VII disease-inducing mutations of the PFKM gene and noted that the disorder is especially prevalent among people of Ashkenazi Jewish descent. The authors found that the frequent exon 5 splicing defect (610681.0005) accounted for approximately 68% of mutant alleles in Ashkenazim. </p>
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<strong>Animal Model</strong>
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<p>Giger et al. (1985) and Vora et al. (1985) reported naturally occurring Pfkm deficiency in English springer spaniel dogs. The dogs had a history of chronic hemolytic anemia and sporadic hemolytic crises. Induced hyperventilation resulted in hemoglobinuria and severe bilirubinemia. Erythrocytes showed increased erythrocyte alkaline fragility, and erythrocyte 2,3-diphosphoglycerate content was reduced. Pfkm levels were 10% of normal controls. </p><p>Giger et al. (1992) reported Pfkm deficiency in an American cocker spaniel. Smith et al. (1996) determined that canine Pfkm deficiency is caused by a nonsense mutation in the canine Pfkm gene, leading to rapid degradation of a truncated protein and loss of enzyme activity. </p>
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<span class="mim-font">
<strong>See Also:</strong>
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<span class="mim-text-font">
Nishikawa et al. (1965); Raben et al. (1993); Yamasaki et al. (1991)
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<span class="mim-font">
<strong>REFERENCES</strong>
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<ol>
<li>
<p class="mim-text-font">
Amit, R., Bashan, N., Abarbanel, J. M., Shapira, Y., Sofer, S., Moses, S.
<strong>Fatal familial infantile glycogen storage disease: multisystem phosphofructokinase deficiency.</strong>
Muscle Nerve 15: 455-458, 1992.
[PubMed: 1533013]
[Full Text: https://doi.org/10.1002/mus.880150406]
</p>
</li>
<li>
<p class="mim-text-font">
Argov, Z., Barash, V., Soffer, D., Sherman, J., Raben, N.
<strong>Late-onset muscular weakness in phosphofructokinase deficiency due to exon 5/intron 5 junction point mutation: a unique disorder or the natural course of this glycolytic disorder?</strong>
Neurology 44: 1097-1100, 1994.
[PubMed: 8208408]
[Full Text: https://doi.org/10.1212/wnl.44.6.1097]
</p>
</li>
<li>
<p class="mim-text-font">
Boulard, M. R., Bois, M., Reviron, M., Najean, Y.
<strong>Red-cell phosphofructokinase deficiency.</strong>
New Eng. J. Med. 291: 978-979, 1974.
[PubMed: 4278172]
[Full Text: https://doi.org/10.1056/nejm197410312911819]
</p>
</li>
<li>
<p class="mim-text-font">
Danon, M. J., Carpenter, S., Manaligod, J. R., Schliselfeld, L. H.
<strong>Fatal infantile glycogen storage disease: deficiency of phosphofructokinase and phosphorylase b kinase.</strong>
Neurology 31: 1303-1307, 1981.
[PubMed: 6213881]
[Full Text: https://doi.org/10.1212/wnl.31.10.1303]
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<li>
<p class="mim-text-font">
Danon, M. J., Servidei, S., DiMauro, S., Vora, S.
<strong>Late-onset muscle phosphofructokinase deficiency.</strong>
Neurology 38: 956-960, 1988.
[PubMed: 2966901]
[Full Text: https://doi.org/10.1212/wnl.38.6.956]
</p>
</li>
<li>
<p class="mim-text-font">
Davidson, M., Miranda, A. F., Bender, A. N., DiMauro, S., Vora, S.
<strong>Muscle phosphofructokinase deficiency: biochemical and immunological studies of phosphofructokinase isozymes in muscle culture.</strong>
J. Clin. Invest. 72: 545-550, 1983.
[PubMed: 6223943]
[Full Text: https://doi.org/10.1172/JCI111002]
</p>
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<li>
<p class="mim-text-font">
Etiemble, J., Kahn, A., Boivin, P., Bernard, J. F., Goudemand, M.
<strong>Hereditary hemolytic anemia with erythrocyte phosphofructokinase deficiency.</strong>
Hum. Genet. 31: 83-91, 1976.
[PubMed: 129430]
[Full Text: https://doi.org/10.1007/BF00270403]
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<li>
<p class="mim-text-font">
Etiemble, J., Picat, C., Simeon, J., Blatrix, C., Boivin, P.
<strong>Inherited erythrocyte phosphofructokinase deficiency: molecular mechanism.</strong>
Hum. Genet. 55: 383-390, 1980.
[PubMed: 6451572]
[Full Text: https://doi.org/10.1007/BF00290222]
</p>
</li>
<li>
<p class="mim-text-font">
Giger, U., Harvey, J. W., Yamaguchi, R. A., McNulty, P. K., Chiapella, A., Beutler, E.
<strong>Inherited phosphofructokinase deficiency in dogs with hyperventilation-induced hemolysis: increased in vitro and in vivo alkaline fragility of erythrocytes.</strong>
Blood 65: 345-351, 1985.
[PubMed: 3155631]
</p>
</li>
<li>
<p class="mim-text-font">
Giger, U., Smith, B. F., Woods, C. B., Patterson, D. F., Stedman, H.
<strong>Inherited phosphofructokinase deficiency in an American cocker spaniel.</strong>
J. Am. Vet. Med. Assoc. 201: 1569-1571, 1992.
[PubMed: 1289336]
</p>
</li>
<li>
<p class="mim-text-font">
Guibaud, P., Carrier, H., Mathieu, M., Dorche, C., Parchoux, B., Bethenod, M., Larbre, F.
<strong>Observation familiale de dystrophie musculaire congenitale par deficit en phosphofructokinase.</strong>
Arch. Franc. Pediat. 35: 1105-1115, 1978.
[PubMed: 155429]
</p>
</li>
<li>
<p class="mim-text-font">
Haller, R. G., Lewis, S. F.
<strong>Glucose-induced exertional fatigue in muscle phosphofructokinase deficiency.</strong>
New Eng. J. Med. 324: 364-369, 1991.
[PubMed: 1824792]
[Full Text: https://doi.org/10.1056/NEJM199102073240603]
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<li>
<p class="mim-text-font">
Hamaguchi, T., Nakajima, H., Noguchi, T., Nakagawa, C., Kuwajima, M., Kono, N., Tarui, S., Matsuzawa, Y.
<strong>Novel missense mutation (W686C) of the phosphofructokinase-M gene in a Japanese patient with a mild form of glycogenosis VII.</strong>
Hum. Mutat. 8: 273-275, 1996.
[PubMed: 8889589]
[Full Text: https://doi.org/10.1002/(SICI)1098-1004(1996)8:3&lt;273::AID-HUMU13&gt;3.0.CO;2-#]
</p>
</li>
<li>
<p class="mim-text-font">
Hays, A. P., Hallett, M., Delfs, J., Morris, J., Sotrel, A., Shevchuk, M. M., DiMauro, S.
<strong>Muscle phosphofructokinase deficiency: abnormal polysaccharide in a case of late-onset myopathy.</strong>
Neurology 31: 1077-1086, 1981.
[PubMed: 6943439]
[Full Text: https://doi.org/10.1212/wnl.31.9.1077]
</p>
</li>
<li>
<p class="mim-text-font">
Kahn, A., Etiemble, J., Meienhofer, M. C., Boivin, P.
<strong>Erythrocyte phosphofructokinase deficiency associated with an unstable variant of muscle phosphofructokinase.</strong>
Clin. Chim. Acta 61: 415-419, 1975.
[PubMed: 125160]
[Full Text: https://doi.org/10.1016/0009-8981(75)90434-9]
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Nishikawa, M., Tsukiyama, K., Enomoto, T., Tarui, S., Okuno, G., Ueda, K., Ikura, T., Tsujii, T., Sugase, T., Suda, M., Tanaka, T.
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Raben, N., Sherman, J., Miller, F., Mena, H., Plotz, P.
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<strong>A limited number of mutations in the phosphofructokinase gene in Ashkenazi Jewish patients with glycogenosis VII (Tarui disease). (Abstract)</strong>
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<strong>A myopathy due to glycolytic abnormality.</strong>
Arch. Neurol. 17: 248-256, 1967.
[PubMed: 4228753]
[Full Text: https://doi.org/10.1001/archneur.1967.00470270026004]
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Servidei, S., Bonilla, E., Diedrich, R. G., Kornfeld, M., Oates, J. D., Davidson, M., Vora, S., DiMauro, S.
<strong>Fatal infantile form of muscle phosphofructokinase deficiency.</strong>
Neurology 36: 1465-1470, 1986.
[PubMed: 2945125]
[Full Text: https://doi.org/10.1212/wnl.36.11.1465]
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<strong>Two cases of phosphofructokinase deficiency associated with congenital hemolytic anemia found in Japan.</strong>
Am. J. Hemat. 14: 165-174, 1983.
[PubMed: 6220601]
[Full Text: https://doi.org/10.1002/ajh.2830140208]
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[PubMed: 6227635]
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Yamasaki,, Nakajima, H., Kono, N., Hotta, K., Yamada, K., Imai, E., Kuwajima, M., Noguchi, T., Tanaka, T., Tarui, S.
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[PubMed: 1833270]
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Zanella, A., Mariani, M., Meola, G., Fagnani, G., Sirchia, G.
<strong>Phosphofructokinase (PFK) deficiency due to a catalytically inactive mutant M-type subunit.</strong>
Am. J. Hemat. 12: 215-225, 1982.
[PubMed: 6211089]
[Full Text: https://doi.org/10.1002/ajh.2830120303]
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Cassandra L. Kniffin - reorganized : 3/8/2007<br>Cassandra L. Kniffin - updated : 2/26/2007<br>Victor A. McKusick - updated : 7/7/1998<br>Victor A. McKusick - updated : 1/15/1998<br>Victor A. McKusick - updated : 8/12/1997
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