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Entry
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- #232400 - GLYCOGEN STORAGE DISEASE III; GSD3
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- OMIM
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<p>
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<span class="h4">#232400</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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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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<li role="presentation">
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<a href="/clinicalSynopsis/232400"><strong>Clinical Synopsis</strong></a>
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<li role="presentation">
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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="#diagnosis">Diagnosis</a>
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<a href="#clinicalManagement">Clinical Management</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#populationGenetics">Population Genetics</a>
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<a href="#history">History</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#animalModel">Animal Model</a>
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<li role="presentation">
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<a href="#seeAlso"><strong>See Also</strong></a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=GLYCOGEN STORAGE DISEASE III" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=15&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>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK26372/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/3123" 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>
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<div><a href="https://medlineplus.gov/genetics/condition/glycogen-storage-disease-type-iii" 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>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=232400[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>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=366" 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>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:2748" 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>
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<div><a href="http://www.informatics.jax.org/disease/232400" 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>
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<div><a href="https://omia.org/OMIA001577/" 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>
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<div><a href="https://wormbase.org/resources/disease/DOID:2748" 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">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
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<span class="panel-title">
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<span class="small">
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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 style="display: table-row">
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<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://catalog.coriell.org/Search?q=OmimNum:232400" 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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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<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.">
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</span>
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</span>
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</div>
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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">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 66937008<br />
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<strong>ICD10CM:</strong> E74.03<br />
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<strong>ORPHA:</strong> 366<br />
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<strong>DO:</strong> 2748<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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232400
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
|
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<h3>
|
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<span class="mim-font">
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GLYCOGEN STORAGE DISEASE III; GSD3
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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FORBES DISEASE<br />
|
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CORI DISEASE<br />
|
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LIMIT DEXTRINOSIS<br />
|
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AMYLO-1,6-GLUCOSIDASE DEFICIENCY<br />
|
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AGL DEFICIENCY<br />
|
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GLYCOGEN DEBRANCHER DEFICIENCY<br />
|
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GDE DEFICIENCY
|
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</span>
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</h4>
|
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</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="includedTitles" class="mim-anchor"></a>
|
|
<div>
|
|
<p>
|
|
<span class="mim-font">
|
|
Other entities represented in this entry:
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<span class="h3 mim-font">
|
|
GLYCOGEN STORAGE DISEASE IIIa, INCLUDED; GSD IIIa, INCLUDED
|
|
</span>
|
|
</div>
|
|
|
|
<div>
|
|
<span class="h4 mim-font">
|
|
|
|
GLYCOGEN STORAGE DISEASE IIIb, INCLUDED; GSD IIIb, INCLUDED<br />
|
|
GLYCOGEN STORAGE DISEASE IIIc, INCLUDED; GSD IIIc, INCLUDED<br />
|
|
GLYCOGEN STORAGE DISEASE IIId, INCLUDED; GSD IIId, INCLUDED
|
|
</span>
|
|
</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/1/832?start=-3&limit=10&highlight=832">
|
|
1p21.2
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Glycogen storage disease IIIb
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/232400"> 232400 </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">
|
|
AGL
|
|
</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">
|
|
Glycogen storage disease IIIa
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/232400"> 232400 </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">
|
|
AGL
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610860"> 610860 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/232400" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
|
|
<a href="/phenotypicSeries/PS232200" class="btn btn-info" role="button"> Phenotypic Series </a>
|
|
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<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/232400" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/232400" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
|
|
|
|
|
|
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GROWTH </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Height </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Short stature <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/422065006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">422065006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237836003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237836003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237837007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237837007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E34.31" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E34.31</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R62.52" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R62.52</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/783.43" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">783.43</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0349588&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0349588</a>, <a href="https://bioportal.bioontology.org/search?q=C0013336&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013336</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003510</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0004322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004322</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004322</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Other </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Growth retardation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/59576002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">59576002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/444896005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">444896005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151686&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151686</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001510</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001510</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Face </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Midface hypoplasia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1853242&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1853242</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011800" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011800</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011800" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011800</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=f0adae8ae2dc0ad9ed28c3c3e0e8f8a9" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Midface_Retrusion-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=f0adae8ae2dc0ad9ed28c3c3e0e8f8a9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Eyes </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Deep-set eyes <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/246923005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">246923005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0423224&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0423224</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000490" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000490</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000490" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000490</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=08eb099548b91270db09ad79e8e75da3" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Eye,Deeply_Set-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=08eb099548b91270db09ad79e8e75da3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Nose </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Depressed nasal bridge <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836542&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836542</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005280" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005280</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005280" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005280</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=7043769fd21a78a413fd758918cdda17" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Nasal_Bridge,Depressed-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=7043769fd21a78a413fd758918cdda17" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
|
|
Broad upturned nasal tip <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856338&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856338</a>]</span><br />
|
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</span>
|
|
</div>
|
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</div>
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<div>
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<div>
|
|
<span class="h5 mim-font">
|
|
<em> Mouth </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Bow-shaped lips <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856339&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856339</a>]</span><br /> -
|
|
Thin vermilion border <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/301348000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">301348000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0578038&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0578038</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000233" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000233</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000233" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000233</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=44a92b33894b203de2c4669f5a70dcce" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Vermilion,Upper_Lip,Thin-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=44a92b33894b203de2c4669f5a70dcce" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> CARDIOVASCULAR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
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<div>
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<div>
|
|
<span class="h5 mim-font">
|
|
<em> Heart </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Cardiomyopathy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/85898001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">85898001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/57809008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">57809008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I51.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I51.5</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/I42" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I42</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/I42.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I42.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/425" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">425</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0878544&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0878544</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001638" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001638</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001638" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001638</a>]</span><br /> -
|
|
Ventricular hypertrophy on ECG <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856342&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856342</a>]</span><br />
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|
|
</span>
|
|
</div>
|
|
</div>
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</div>
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</div>
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<div>
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> ABDOMEN </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<em> Liver </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hepatomegaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/80515008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">80515008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R16.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R16.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/789.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">789.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0019209&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0019209</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002240" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002240</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002240" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002240</a>]</span><br /> -
|
|
Hepatic fibrosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/62484002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">62484002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K74.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K74.00</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/K74.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K74.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0239946&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0239946</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001395" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001395</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001395" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001395</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
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|
|
</div>
|
|
|
|
</div>
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|
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|
|
|
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MUSCLE, SOFT TISSUES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Muscle weakness (increases with age) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856347&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856347</a>]</span> <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">[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 /> -
|
|
Distal muscle wasting <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1848736&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1848736</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003693" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003693</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003693" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003693</a>]</span><br /> -
|
|
Myopathy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/129565002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">129565002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G72.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G72.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M62.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M62.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M60-M63" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M60-M63</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/359.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">359.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026848&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026848</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003198" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003198</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003198" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003198</a>]</span><br /> -
|
|
Muscle biopsy shows vacuoles containing PAS-positive glycogen <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2749423&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2749423</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
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|
|
|
</div>
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> METABOLIC FEATURES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Hypoglycemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237630007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237630007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/271327008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">271327008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/302866003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">302866003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1179458001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1179458001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E16.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E16.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/251.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">251.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020615&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020615</a>, <a href="https://bioportal.bioontology.org/search?q=C5767385&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5767385</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001943" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001943</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001943" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001943</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
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|
|
</div>
|
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</div>
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> LABORATORY ABNORMALITIES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Amylo-1,6-glucosidase deficiency <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/124472001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">124472001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/66937008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">66937008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E74.03" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E74.03</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2936915&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2936915</a>, <a href="https://bioportal.bioontology.org/search?q=C0017922&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0017922</a>]</span><br /> -
|
|
Hypoglycemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237630007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237630007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/271327008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">271327008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/302866003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">302866003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1179458001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1179458001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E16.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E16.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/251.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">251.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020615&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020615</a>, <a href="https://bioportal.bioontology.org/search?q=C5767385&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5767385</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001943" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001943</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001943" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001943</a>]</span><br /> -
|
|
Hyperlipidemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/55822004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">55822004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/166816003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">166816003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/3744001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">3744001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E78.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E78.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0428465&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0428465</a>, <a href="https://bioportal.bioontology.org/search?q=C0020476&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020476</a>, <a href="https://bioportal.bioontology.org/search?q=C0020473&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020473</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010980" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010980</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0003077" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003077</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003077" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003077</a>]</span><br /> -
|
|
Normal blood lactate <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856340&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856340</a>]</span><br /> -
|
|
Normal uric acid <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856341&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856341</a>]</span><br /> -
|
|
Elevated transaminases <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0438717&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0438717</a>, <a href="https://bioportal.bioontology.org/search?q=C2242708&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2242708</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002910" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002910</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002910" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002910</a>]</span><br /> -
|
|
Increased serum creatine kinase <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0241005&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0241005</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003236" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003236</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003236" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003236</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
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<strong> MISCELLANEOUS </strong>
|
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
|
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<span class="mim-font">
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|
|
- Type IIIa has both liver and muscle involvement<br /> -
|
|
Type IIIb liver involvement only (15% of all cases)<br /> -
|
|
Liver symptoms improve with age and disappear after puberty<br /> -
|
|
Muscle weakness increases with age<br />
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|
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
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<strong> MOLECULAR BASIS </strong>
|
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</span>
|
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</div>
|
|
<div style="margin-left: 2em;">
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<div>
|
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<span class="mim-font">
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|
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- Caused by mutation in the amylo-1,6-glucosidase, 4-alpha-glucanotransferase gene (AGL, <a href="/entry/610860#0001">610860.0001</a>)<br />
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</span>
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</div>
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</div>
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</div>
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<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
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</div>
|
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</div>
|
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</div>
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<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
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<div class="small">
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<div class="row">
|
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<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
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<h5>
|
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Glycogen storage disease
|
|
- <a href="/phenotypicSeries/PS232200">PS232200</a>
|
|
- 24 Entries
|
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</h5>
|
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</div>
|
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</div>
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|
|
<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>
|
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</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>
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<p>A number sign (#) is used with this entry because glycogen storage disease III (GSD3) is caused by homozygous or compound heterozygous mutation in the AGL gene (<a href="/entry/610860">610860</a>), which encodes the glycogen debrancher enzyme, on chromosome 1p21.</p>
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<p>Glycogen storage disease III (GSD3) is an autosomal recessive metabolic disorder caused by deficiency of the glycogen debrancher enzyme and associated with an accumulation of abnormal glycogen with short outer chains. Most patients are enzyme-deficient in both liver and muscle (IIIa), but about 15% are enzyme-deficient in liver only (IIIb) (<a href="#34" class="mim-tip-reference" title="Shen, J., Bao, Y., Liu, H.-M., Lee, P., Leonard, J. V., Chen, Y.-T. <strong>Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle.</strong> J. Clin. Invest. 98: 352-357, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8755644/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8755644</a>] [<a href="https://doi.org/10.1172/JCI118799" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8755644">Shen et al., 1996</a>). These subtypes have been explained by differences in tissue expression of the deficient enzyme (<a href="#13" class="mim-tip-reference" title="Endo, Y., Horinishi, A., Vorgerd, M., Aoyama, Y., Ebara, T., Murase, T., Odawara, M., Podskarbi, T., Shin, Y. S., Okubo, M. <strong>Molecular analysis of the AGL gene: heterogeneity of mutations in patients with glycogen storage disease type III from Germany, Canada, Afghanistan, Iran, and Turkey.</strong> J. Hum. Genet. 51: 958-963, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17047887/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17047887</a>] [<a href="https://doi.org/10.1007/s10038-006-0045-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17047887">Endo et al., 2006</a>). In rare cases, selective loss of only 1 of the 2 debranching activities, glucosidase or transferase, results in type IIIc or IIId, respectively (<a href="#39" class="mim-tip-reference" title="Van Hoof, F., Hers, H. G. <strong>The subgroups of type III glycogenosis.</strong> Europ. J. Biochem. 2: 265-270, 1967.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5235982/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5235982</a>] [<a href="https://doi.org/10.1111/j.1432-1033.1967.tb00134.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5235982">Van Hoof and Hers, 1967</a>; <a href="#11" class="mim-tip-reference" title="Ding, J.-H., de Barsy, T., Brown, B. I., Coleman, R. A., Chen, Y.-T. <strong>Immunoblot analyses of glycogen debranching enzyme in different subtypes of glycogen storage disease type III.</strong> J. Pediat. 116: 95-100, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2295969/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2295969</a>] [<a href="https://doi.org/10.1016/s0022-3476(05)81652-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2295969">Ding et al., 1990</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2295969+17047887+5235982+8755644" 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>Clinically, patients with GSD III present in infancy or early childhood with hepatomegaly, hypoglycemia, and growth retardation. Muscle weakness in those with IIIa is minimal in childhood but can become more severe in adults; some patients develop cardiomyopathy (<a href="#34" class="mim-tip-reference" title="Shen, J., Bao, Y., Liu, H.-M., Lee, P., Leonard, J. V., Chen, Y.-T. <strong>Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle.</strong> J. Clin. Invest. 98: 352-357, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8755644/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8755644</a>] [<a href="https://doi.org/10.1172/JCI118799" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8755644">Shen et al., 1996</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8755644" 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="#21" class="mim-tip-reference" title="Lucchiari, S., Santoro, D., Pagliarani, S., Comi, G. P. <strong>Clinical, biochemical and genetic features of glycogen debranching enzyme deficiency.</strong> Acta Myol. 26: 72-74, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17915576/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17915576</a>]" pmid="17915576">Lucchiari et al. (2007)</a> provided a review of GSD III. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17915576" 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="#2" class="mim-tip-reference" title="Brunberg, J. A., McCormick, W. F., Schochet, S. S., Jr. <strong>Type III glycogenosis. An adult with diffuse weakness and muscle wasting.</strong> Arch. Neurol. 25: 171-178, 1971.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5285455/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5285455</a>] [<a href="https://doi.org/10.1001/archneur.1971.00490020089011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5285455">Brunberg et al. (1971)</a> reported an adult with GSD III who had diffuse muscle weakness and wasting. <a href="#10" class="mim-tip-reference" title="DiMauro, S., Hartwig, G. B., Hays, A., Eastwood, A. B., Franco, R., Olarte, M., Chang, M., Roses, A. D., Fetell, M., Schoenfeldt, R. S., Stern, L. Z. <strong>Debrancher deficiency: neuromuscular disorder in 5 adults.</strong> Ann. Neurol. 5: 422-436, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/288318/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">288318</a>] [<a href="https://doi.org/10.1002/ana.410050504" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="288318">DiMauro et al. (1979)</a> reported 5 adult patients with adult-onset, slowly progressive muscle weakness associated with debrancher enzyme deficiency. Two patients had distal muscle wasting, 3 had hepatomegaly, and 2 had congestive heart failure. Electromyography showed a mixed pattern with abundant fibrillations, and serum creatine kinase was increased 5- to 45-fold. Skeletal muscle biopsy showed a vacuolar myopathy with increased glycogen content. <a href="#10" class="mim-tip-reference" title="DiMauro, S., Hartwig, G. B., Hays, A., Eastwood, A. B., Franco, R., Olarte, M., Chang, M., Roses, A. D., Fetell, M., Schoenfeldt, R. S., Stern, L. Z. <strong>Debrancher deficiency: neuromuscular disorder in 5 adults.</strong> Ann. Neurol. 5: 422-436, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/288318/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">288318</a>] [<a href="https://doi.org/10.1002/ana.410050504" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="288318">DiMauro et al. (1979)</a> suggested that debrancher deficiency myopathy may not be rare and should be considered in the differential diagnosis of adult-onset hereditary myopathies. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=288318+5285455" 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="Fellows, I. W., Lowe, J. S., Ogilvie, A., Stevens, A., Toghill, P. J., Atkinson, M. <strong>Type III glycogenosis presenting as liver disease in adults with atypical histological features.</strong> J. Clin. Path. 36: 431-434, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6572629/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6572629</a>] [<a href="https://doi.org/10.1136/jcp.36.4.431" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6572629">Fellows et al. (1983)</a> reported 2 unrelated adults with GSD III who presented with liver disease, one of whom developed fatal cirrhosis. Both had hepatomegaly since childhood. Histology showed unusual hepatic vacuolation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6572629" 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 Israel, <a href="#25" class="mim-tip-reference" title="Moses, S. W., Wanderman, K. L., Myroz, A., Frydman, M. <strong>Cardiac involvement in glycogen storage disease type III.</strong> Europ. J. Pediat. 148: 764-766, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2792130/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2792130</a>] [<a href="https://doi.org/10.1007/BF00443106" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2792130">Moses et al. (1989)</a> performed cardiologic studies on 20 patients, aged 3 to 30 years, with enzymatically proven GSD IIIa. Seventeen patients showed subclinical evidence of cardiac involvement in the form of ventricular hypertrophy on ECG; 13 of 16 patients in whom an echocardiographic examination was performed had abnormal findings. Only 2 had cardiomegaly on x-ray. <a href="#25" class="mim-tip-reference" title="Moses, S. W., Wanderman, K. L., Myroz, A., Frydman, M. <strong>Cardiac involvement in glycogen storage disease type III.</strong> Europ. J. Pediat. 148: 764-766, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2792130/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2792130</a>] [<a href="https://doi.org/10.1007/BF00443106" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2792130">Moses et al. (1989)</a> described in detail the findings in a 25-year-old female with clinically evident cardiomyopathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2792130" 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="#24" class="mim-tip-reference" title="Momoi, T., Sano, H., Yamanaka, C., Sasaki, H., Mikawa, H. <strong>Glycogen storage disease type III with muscle involvement: reappraisal of phenotypic variability and prognosis.</strong> Am. J. Med. Genet. 42: 696-699, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1632441/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1632441</a>] [<a href="https://doi.org/10.1002/ajmg.1320420514" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1632441">Momoi et al. (1992)</a> reviewed the case histories of 19 Japanese patients with GSD IIIa who developed muscular symptoms at various ages. They divided the patients into 4 groups: one with childhood onset of both muscle weakness and hepatic disorders; one with onset of muscular symptoms in adulthood while liver symptoms started in childhood; one with muscle weakness starting in adulthood long after liver symptoms in childhood had disappeared; and one with only muscle symptoms as adults without any sign or history of liver dysfunction after childhood. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1632441" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="Coleman, R. A., Winter, H. S., Wolf, B., Chen, Y.-T. <strong>Glycogen debranching enzyme deficiency: long-term study of serum enzyme activities and clinical features.</strong> J. Inherit. Metab. Dis. 15: 869-881, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1293383/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1293383</a>] [<a href="https://doi.org/10.1007/BF01800225" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1293383">Coleman et al. (1992)</a> studied 13 patients with GSD III followed from infancy. Activities of serum aspartate and alanine transaminases, lactate dehydrogenase, and alkaline phosphatase were markedly elevated during infancy. The serum enzyme activities declined around puberty concomitantly with a decrease in liver size. Although periportal fibrosis and micronodular cirrhosis indicated the presence of hepatocellular damage during childhood, the decline in serum enzyme activities with age and the absence of overt hepatic dysfunction suggested to the authors that the fibrotic process may not always progress. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1293383" 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="Markowitz, A. J., Chen, Y.-T., Muenzer, J., Delbuono, E. A., Lucey, M. R. <strong>A man with type III glycogenosis associated with cirrhosis and portal hypertension.</strong> Gastroenterology 105: 1882-1885, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8253364/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8253364</a>] [<a href="https://doi.org/10.1016/0016-5085(93)91088-y" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8253364">Markowitz et al. (1993)</a> described a white man in whom the diagnosis of GSD III was made on the basis of open liver biopsy at the age of 1 year. At the age of 31 years, he presented with variceal hemorrhage secondary to hepatic cirrhosis. No other cause of the cirrhosis was found, other than deficiency of debranching enzyme, which was documented both in liver and skeletal muscle. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8253364" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a multicenter study in the United States and Canada, <a href="#37" class="mim-tip-reference" title="Talente, G. M., Coleman, R. A., Alter, C., Baker, L., Brown, B. I., Cannon, R. A., Chen, Y.-T., Crigler, J. F., Jr., Ferreira, P., Haworth, J. C., Herman, G. E., Issenman, R. M., Keating, J. P., Linde, R., Roe, T. F., Senior, B., Wolfsdorf, J. I. <strong>Glycogen storage disease in adults.</strong> Ann. Intern. Med. 120: 218-226, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8273986/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8273986</a>] [<a href="https://doi.org/10.7326/0003-4819-120-3-199402010-00008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8273986">Talente et al. (1994)</a> identified 9 patients with GSD III who were 18 years of age or older. Increased creatine kinase activity was observed in 6 patients; 4 had myopathy and cardiomyopathy. One of the patients reported in detail was a 55-year-old man who owned and managed a small business. At age 30, he had gradual onset of weakness in his hands and feet. The distal muscles atrophied, and weakness progressed to include the limb-girdle region. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8273986" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#17" class="mim-tip-reference" title="Hadjigeorgiou, G. M., Comi, G. P., Bordoni, A., Shen, J., Chen, Y.-T., Salani, S., Toscano, A., Fortunato, F., Lucchiari, S., Bresolin, N., Rodolico, C., Piscaglia, M. G., Franceschina, L., Papadimitriou, A., Scarlato, G. <strong>Novel donor splice site mutations of AGL gene in glycogen storage disease type IIIa.</strong> J. Inherit. Metab. Dis. 22: 762-763, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10472540/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10472540</a>] [<a href="https://doi.org/10.1023/a:1005572906807" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10472540">Hadjigeorgiou et al. (1999)</a> reported 4 adult Italian patients with GSD IIIa confirmed by molecular analysis. All patients had a history of infantile hepatomegaly followed by myopathy in their twenties. AGL activity and protein were almost absent in muscle specimens. A remarkably severe clinical history was noted in 1 patient, who underwent liver transplantation at 23 years of age and developed a proximal myopathy and an obstructive hypertrophic cardiomyopathy by age 30 years. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10472540" 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 7 patients with GSD III, <a href="#5" class="mim-tip-reference" title="Cleary, M. A., Walter, J. H., Kerr, B. A., Wraith, J. E. <strong>Facial appearance in glycogen storage disease type III.</strong> Clin. Dysmorph. 11: 117-120, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12002141/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12002141</a>] [<a href="https://doi.org/10.1097/00019605-200204000-00008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12002141">Cleary et al. (2002)</a> identified consistent facial features including midface hypoplasia with a depressed nasal bridge and a broad upturned nasal tip, indistinct philtral pillars, and bow-shaped lips with a thin vermilion border. In addition, younger patients had deep-set eyes. Several children had clinical problems such as persistent otitis media or recurrent sinusitis. The similar features in these patients suggested a distinct facial phenotype for this disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12002141" 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="#31" class="mim-tip-reference" title="Schoser, B., Glaser, D., Muller-Hocker, J. <strong>Clinicopathological analysis of the homozygous p.W1327X AGL mutation in glycogen storage disease type 3.</strong> Am. J. Med. Genet. 146A: 2911-2915, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18924225/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18924225</a>] [<a href="https://doi.org/10.1002/ajmg.a.32529" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18924225">Schoser et al. (2008)</a> reported a family with variable presentation of GSD III. The 49-year-old female proband presented with hepatomegaly, cardiomyopathy, and moderate progressive proximal limb myopathy. She developed proximal muscle weakness at age 10 and signs and symptoms of cardiomyopathy at age 30. She also had progressive hearing impairment beginning at age 30. Skeletal muscle biopsy showed severe vacuolar myopathy with PAS-positive glycogen storage material that altered the contractile apparatus. Two brothers had died of severe infantile liver cirrhosis, and a sister died with cardiomyopathy, hepatomegaly, and myopathy at age 33. The proband was homozygous for a truncating mutation in the AGL gene. Heterozygous family members had exercise-inducted myalgia and weakness since their teens. <a href="#31" class="mim-tip-reference" title="Schoser, B., Glaser, D., Muller-Hocker, J. <strong>Clinicopathological analysis of the homozygous p.W1327X AGL mutation in glycogen storage disease type 3.</strong> Am. J. Med. Genet. 146A: 2911-2915, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18924225/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18924225</a>] [<a href="https://doi.org/10.1002/ajmg.a.32529" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18924225">Schoser et al. (2008)</a> concluded that, with the exception of early infantile fatal cirrhosis, patients with GSD III may stay ambulatory until adulthood. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18924225" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Aoyama, Y., Ozer, I., Demirkol, M., Ebara, T., Murase, T., Podskarbi, T., Shin, Y. S., Gokcay, G., Okubo, M. <strong>Molecular features of 23 patients with glycogen storage disease type III in Turkey: a novel mutation p.R1147G associated with isolated glucosidase deficiency, along with 9 AGL mutations.</strong> J. Hum. Genet. 54: 681-686, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19834502/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19834502</a>] [<a href="https://doi.org/10.1038/jhg.2009.100" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19834502">Aoyama et al. (2009)</a> reported a 14-year-old Turkish girl with GSD type IIIc, or isolated glucosidase deficiency, due to homozygosity for an AGL mutation (R1147G; <a href="/entry/610860#0014">610860.0014</a>). She had mild hepatomegaly, but no clinical muscle involvement or hypoglycemia. The authors stated that this was the first molecular diagnosis in a patient with GSD IIIc. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19834502" 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>Clinical Variability</em></strong></p><p>
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<a href="#12" class="mim-tip-reference" title="Ebermann, I., Elsayed, S. M., Abdel-Ghaffar, T. Y., Nurnberg, G., Nurnberg, P., Elsobky, E., Bolz, H. J. <strong>Double homozygosity for mutations of AGL and SCN9A mimicking neurohepatopathy syndrome.</strong> Neurology 70: 2343-2344, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18541889/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18541889</a>] [<a href="https://doi.org/10.1212/01.wnl.0000314731.65875.5c" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18541889">Ebermann et al. (2008)</a> reported an 11-year-old boy, born of Egyptian consanguineous parents, with a phenotype suggestive of Navajo neurohepatopathy (MTDPS6; <a href="/entry/256810">256810</a>) including short stature, frequent painless fractures, bruises, and cuts, hepatomegaly with elevated liver enzymes, corneal ulcerations, and mild hypotonia. His 22-month-old sister had short stature, hepatomegaly, increased liver enzymes, and hypotonia. A cousin had died at age 8 years from liver failure. After genetic analysis excluded a mutation in the MPV17 gene (<a href="/entry/137960">137960</a>), <a href="#12" class="mim-tip-reference" title="Ebermann, I., Elsayed, S. M., Abdel-Ghaffar, T. Y., Nurnberg, G., Nurnberg, P., Elsobky, E., Bolz, H. J. <strong>Double homozygosity for mutations of AGL and SCN9A mimicking neurohepatopathy syndrome.</strong> Neurology 70: 2343-2344, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18541889/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18541889</a>] [<a href="https://doi.org/10.1212/01.wnl.0000314731.65875.5c" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18541889">Ebermann et al. (2008)</a> postulated 2 recessive diseases. Genomewide linkage analysis and gene sequencing of the proband identified a homozygous mutation in the AGL gene, consistent with glycogen storage disease III, and a homozygous mutation in the SCN9A gene (<a href="/entry/603415">603415</a>), consistent with congenital insensitivity to pain (CIPA; <a href="/entry/243000">243000</a>). His sister had the AGL mutation and GSD3 only. <a href="#12" class="mim-tip-reference" title="Ebermann, I., Elsayed, S. M., Abdel-Ghaffar, T. Y., Nurnberg, G., Nurnberg, P., Elsobky, E., Bolz, H. J. <strong>Double homozygosity for mutations of AGL and SCN9A mimicking neurohepatopathy syndrome.</strong> Neurology 70: 2343-2344, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18541889/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18541889</a>] [<a href="https://doi.org/10.1212/01.wnl.0000314731.65875.5c" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18541889">Ebermann et al. (2008)</a> emphasized that consanguineous matings increase the risk of homozygous genotypes and recessive diseases, which may complicate genetic counseling. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18541889" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#29" class="mim-tip-reference" title="Rosenfeld, E. L., Popova, I. A., Chibisov, I. V. <strong>Some cases of type III glycogen storage disease.</strong> Clin. Chim. Acta 67: 123-130, 1976.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1061645/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1061645</a>] [<a href="https://doi.org/10.1016/0009-8981(76)90250-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1061645">Rosenfeld et al. (1976)</a> reported 5 patients with GSD III from the USSR. All had hypoglycemia after an overnight fast. Liver glycogen was increased and there was complete absence of liver AGL activity. Two patients also had a decrease in liver phosphorylase (<a href="/entry/232700">232700</a>) activity, and another had a decrease in glucose-6-phosphatase (<a href="/entry/613742">613742</a>) activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1061645" 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>By immunoblot studies, <a href="#4" class="mim-tip-reference" title="Chen, Y.-T., He, J.-K., Ding, J.-H., Brown, B. I. <strong>Glycogen debranching enzyme: purification, antibody characterization, and immunoblot analyses of type III glycogen storage disease.</strong> Am. J. Hum. Genet. 41: 1002-1015, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2961257/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2961257</a>]" pmid="2961257">Chen et al. (1987)</a> found absence of the glycogen debranching enzyme in liver and muscle samples from patients with GSD III. Cross-reactive material was detected in liver and muscle samples from patients with other types of glycogen storage disease, indicating that absence of the debranching enzyme in liver and muscle is specific for GSD III. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2961257" 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="#35" class="mim-tip-reference" title="Shen, J., Liu, H.-M., Bao, Y., Chen, Y.-T. <strong>Polymorphic markers of the glycogen debranching enzyme gene allowing linkage analysis in families with glycogen storage disease type III.</strong> J. Med. Genet. 34: 34-38, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9032647/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9032647</a>] [<a href="https://doi.org/10.1136/jmg.34.1.34" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9032647">Shen et al. (1997)</a> used 3 polymorphic markers within the AGL gene for linkage analysis of GSD III and showed the potential use of these markers for carrier detection and prenatal diagnosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9032647" 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="#18" class="mim-tip-reference" title="Kishnani, P. S., Austin, S. L., Arn, P., Bali, D. S., Boney, A., Case, L. E., Chung, W. K., Desai, D. M., El-Gharbawy, A., Haller, R., Smit, G. P. A., Smith, A. D., Hobson-Webb, L. D., Wechsler, S. B, Weinstein, D. A., Watson, M. S. <strong>Glycogen storage disease type III diagnosis and management guidelines.</strong> Genet. Med. 12: 446-463, 2010. Note: Erratum: Genet. Med. 12: 566 only, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20631546/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20631546</a>] [<a href="https://doi.org/10.1097/GIM.0b013e3181e655b6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20631546">Kishnani et al. (2010)</a> recommended that the diagnosis of GSD III based on the following: observation of accumulation of abnormal glycogen with short outer branches and deficient debranching enzyme activity in frozen muscle or liver tissue, or identification of biallelic pathogenic mutations in the AGL gene. In GSD IIIa, deficient enzyme activity is found in liver and muscle tissue, whereas in GSD IIIb it is found only in muscle. Mutations causing GSD IIIa are found throughout the gene and molecular diagnosis requires sequencing of the entire AGL gene, whereas there are 2 mutations in exon 3 of AGL that are specifically associated with GSD IIIb (Q6X, <a href="/entry/610860#0002">610860.0002</a> and c.17_18delAG, <a href="/entry/610860#0004">610860.0004</a>) and if GSD IIIb is strongly suspected, targeted sequencing of exon 3 may be an appropriate first step. Targeted mutation testing of the AGL gene was recommended for diagnosis of an individual if there is a known familial mutation. Classic laboratory findings that may assist in diagnosis of GSD III include elevated beta-hydroxybutyrate at the time of hypoglycemia, an increase in blood sugar after glucagon stimulation 2 hours after a meal but not after an overnight fast, and normal uric acid and lactate levels. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20631546" 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="#18" class="mim-tip-reference" title="Kishnani, P. S., Austin, S. L., Arn, P., Bali, D. S., Boney, A., Case, L. E., Chung, W. K., Desai, D. M., El-Gharbawy, A., Haller, R., Smit, G. P. A., Smith, A. D., Hobson-Webb, L. D., Wechsler, S. B, Weinstein, D. A., Watson, M. S. <strong>Glycogen storage disease type III diagnosis and management guidelines.</strong> Genet. Med. 12: 446-463, 2010. Note: Erratum: Genet. Med. 12: 566 only, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20631546/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20631546</a>] [<a href="https://doi.org/10.1097/GIM.0b013e3181e655b6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20631546">Kishnani et al. (2010)</a> developed guidelines for the management of the multisystem effects of GSD III. To manage the potential for cardiomyopathy and arrhythmia, they recommended a baseline echocardiogram at diagnosis and every 12-14 months in GSD IIIa, and at baseline and every 5 years in GSD IIIb, or more frequently if there are symptoms. An ECG to screen for left ventricular hypertrophy and arrhythmia was recommended every 2 years in GSD IIIa, or more frequently if there are symptoms or concerns. To manage the nutritional and gastrointestinal issues in GSD III, <a href="#18" class="mim-tip-reference" title="Kishnani, P. S., Austin, S. L., Arn, P., Bali, D. S., Boney, A., Case, L. E., Chung, W. K., Desai, D. M., El-Gharbawy, A., Haller, R., Smit, G. P. A., Smith, A. D., Hobson-Webb, L. D., Wechsler, S. B, Weinstein, D. A., Watson, M. S. <strong>Glycogen storage disease type III diagnosis and management guidelines.</strong> Genet. Med. 12: 446-463, 2010. Note: Erratum: Genet. Med. 12: 566 only, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20631546/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20631546</a>] [<a href="https://doi.org/10.1097/GIM.0b013e3181e655b6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20631546">Kishnani et al. (2010)</a> recommended seeking the advice of a metabolic dietitian. In infants and small children, fasting should be avoided, and small frequent meals with protein and complex carbohydrates should be provided. Cornstarch should be introduced in the first year of life if hypoglycemia is present, and a bedtime snack, overnight feedings, or cornstarch may be given to avoid overnight fasting. In adolescents and adults, avoidance of fasting and a high protein/low complex carbohydrate diet along with avoidance of simple sugars was recommended. In children, abdominal ultrasound to screen for liver abnormalities was recommended at diagnosis and then every 12-24 months, and in adults abdominal CT or MRI with contrast may be performed every 6-12 months based on clinical or laboratory concerns. Laboratory testing to screen for liver concerns should include aspartate transaminase, alanine transaminase, prothrombin time, bilirubin and albumin every 6-12 months. Physical therapy was recommended to manage the musculoskeletal and endurance issues associated with GSD IIIa, and neuromuscular assessment and management was recommended if weakness or neuropathy was present. <a href="#18" class="mim-tip-reference" title="Kishnani, P. S., Austin, S. L., Arn, P., Bali, D. S., Boney, A., Case, L. E., Chung, W. K., Desai, D. M., El-Gharbawy, A., Haller, R., Smit, G. P. A., Smith, A. D., Hobson-Webb, L. D., Wechsler, S. B, Weinstein, D. A., Watson, M. S. <strong>Glycogen storage disease type III diagnosis and management guidelines.</strong> Genet. Med. 12: 446-463, 2010. Note: Erratum: Genet. Med. 12: 566 only, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20631546/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20631546</a>] [<a href="https://doi.org/10.1097/GIM.0b013e3181e655b6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20631546">Kishnani et al. (2010)</a> recommended the avoidance of medications that might mask symptoms of hypoglycemia (beta-blockers), cause hypoglycemia (sulfonylureas), worsen myopathic symptoms (statins, succinylcholine), or potentially promote liver tumors (estrogens). Careful management to avoid hypoglycemia and other complications during pregnancy and delivery was also recommended. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20631546" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In 3 unrelated patients with GSD IIIb, <a href="#34" class="mim-tip-reference" title="Shen, J., Bao, Y., Liu, H.-M., Lee, P., Leonard, J. V., Chen, Y.-T. <strong>Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle.</strong> J. Clin. Invest. 98: 352-357, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8755644/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8755644</a>] [<a href="https://doi.org/10.1172/JCI118799" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8755644">Shen et al. (1996)</a> identified homozygous or compound heterozygous mutations in the AGL gene (see, e.g., <a href="/entry/610860#0002">610860.0002</a>-<a href="/entry/610860#0004">610860.0004</a>). One of the mutations (c.17_18delAG; <a href="/entry/610860#0004">610860.0004</a>) was found in 8 of 10 additional GSD IIIb patients. Mutations in exon 3 were present in 12 of 13 GSD IIIb patients, suggesting a specific association. In addition, the identification of exon 3 mutations may have clinical significance because it can distinguish GSD IIIb from IIIa. The 3 patients with GSD IIIb in whom mutations were studied in detail were aged 25 years, 18 years, and 41 years; they had no clinical or laboratory evidence of myopathy or cardiomyopathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8755644" 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="Shen, J,, Bao, Y., Chen, Y.-T. <strong>A nonsense mutation due to a single base insertion in the 3-prime-coding region of glycogen debranching enzyme gene associated with a severe phenotype in a patient with glycogen storage disease type IIIa.</strong> Hum. Mutat. 9: 37-40, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8990006/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8990006</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(1997)9:1<37::AID-HUMU6>3.0.CO;2-M" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8990006">Shen et al. (1997)</a> identified a homozygous mutation in the AGL gene (<a href="/entry/610860#0001">610860.0001</a>) in a child with an unusually severe GSD IIIa phenotype. <a href="#26" class="mim-tip-reference" title="Okubo, M., Horinishi, A., Takeuchi, M., Suzuki, Y., Sakura, N., Hasegawa, Y., Igarashi, T., Goto, K., Tahara, H., Uchimoto, S., Omichi, K., Kanno, H., Hayasaka, K., Murase, T. <strong>Heterogeneous mutations in the glycogen-debranching enzyme gene are responsible for glycogen storage disease type IIIa in Japan.</strong> Hum. Genet. 106: 108-115, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10982190/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10982190</a>] [<a href="https://doi.org/10.1007/s004390051017" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10982190">Okubo et al. (2000)</a> identified 7 different mutations in the AGL gene, including 6 novel mutations, among 8 Japanese GSD IIIa patients from 7 families. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10982190+8990006" 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="Shaiu, W.-L., Kishnani, P. S., Shen, J., Liu, H.-M., Chen, Y.-T. <strong>Genotype-phenotype correlation in two frequent mutations and mutation update in type III glycogen storage disease.</strong> Molec. Genet. Metab. 69: 16-23, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10655153/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10655153</a>] [<a href="https://doi.org/10.1006/mgme.1999.2953" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10655153">Shaiu et al. (2000)</a> reported 2 frequent mutations, each of which was found in homozygous state in multiple patients, and each of which was associated with a subset of clinical phenotype in those patients with that mutation. One mutation (IVS32-12A-G; <a href="/entry/610860#0006">610860.0006</a>) was identified in homozygosity in a confirmed GSD IIIa Caucasian patient who presented with mild clinical symptoms. This mutation had an allele frequency of approximately 5.5% in GSD III patients tested. The other common mutation (3964delT; <a href="/entry/610860#0010">610860.0010</a>) was identified in an African American patient who had a severe phenotype and early onset of clinical symptoms. The mutation was later identified in several other patients and was observed at a frequency of approximately 6.7%. Together, these 2 mutations can account for more than 12% of the molecular defects in GSD III patients. <a href="#32" class="mim-tip-reference" title="Shaiu, W.-L., Kishnani, P. S., Shen, J., Liu, H.-M., Chen, Y.-T. <strong>Genotype-phenotype correlation in two frequent mutations and mutation update in type III glycogen storage disease.</strong> Molec. Genet. Metab. 69: 16-23, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10655153/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10655153</a>] [<a href="https://doi.org/10.1006/mgme.1999.2953" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10655153">Shaiu et al. (2000)</a> also identified 6 additional mutations and reviewed the nonmutation state. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10655153" 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="#20" class="mim-tip-reference" title="Lucchiari, S., Fogh, I., Prelle, A., Parini, R., Bresolin, N., Melis, D., Fiori, L., Scarlato, G., Comi, G. P. <strong>Clinical and genetic variability of glycogen storage disease type IIIa: seven novel AGL gene mutations in the Mediterranean area.</strong> Am. J. Med. Genet. 109: 183-190, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11977176/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11977176</a>] [<a href="https://doi.org/10.1002/ajmg.10347" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11977176">Lucchiari et al. (2002)</a> identified 7 novel mutations of the AGL gene in patients with GSD IIIa in the Mediterranean area. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11977176" 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="#13" class="mim-tip-reference" title="Endo, Y., Horinishi, A., Vorgerd, M., Aoyama, Y., Ebara, T., Murase, T., Odawara, M., Podskarbi, T., Shin, Y. S., Okubo, M. <strong>Molecular analysis of the AGL gene: heterogeneity of mutations in patients with glycogen storage disease type III from Germany, Canada, Afghanistan, Iran, and Turkey.</strong> J. Hum. Genet. 51: 958-963, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17047887/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17047887</a>] [<a href="https://doi.org/10.1007/s10038-006-0045-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17047887">Endo et al. (2006)</a> identified 9 different mutations in the AGL gene, including 6 novel mutations, among 9 patients with GSD III. The patients were from Germany, Canada, Afghanistan, Iran, and Turkey. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17047887" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Aoyama, Y., Ozer, I., Demirkol, M., Ebara, T., Murase, T., Podskarbi, T., Shin, Y. S., Gokcay, G., Okubo, M. <strong>Molecular features of 23 patients with glycogen storage disease type III in Turkey: a novel mutation p.R1147G associated with isolated glucosidase deficiency, along with 9 AGL mutations.</strong> J. Hum. Genet. 54: 681-686, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19834502/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19834502</a>] [<a href="https://doi.org/10.1038/jhg.2009.100" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19834502">Aoyama et al. (2009)</a> identified 10 different AGL mutations, including 8 novel mutations (see, e.g., <a href="/entry/610860#0014">610860.0014</a> and <a href="/entry/610860#0015">610860.0015</a>), in 23 Turkish patients with GSD III. No genotype/phenotype correlations were observed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19834502" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In Israel, 73% of glycogen storage disease was of type III. All cases were non-Ashkenazim, being mainly of North African extraction, in which group the incidence was 1 in 5,420 (<a href="#19" class="mim-tip-reference" title="Levin, S., Moses, S. W., Chayoth, R., Jadoga, N., Steinitz, K. <strong>Glycogen storage disease in Israel. A clinical, biochemical and genetic study.</strong> Isr. J. Med. Sci. 3: 397-410, 1967.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5317551/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5317551</a>]" pmid="5317551">Levin et al., 1967</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5317551" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>The overall incidence of GSD III is about 1 in 100,000 live births in the U.S.; however, it is unusually frequent among North African Jewish individuals in Israel (1 in 5,400 with a carrier frequency of 1 in 35) (<a href="#27" class="mim-tip-reference" title="Parvari, R., Moses, S., Shen, J., Hershkovitz, E., Lerner, A., Chen, Y.-T. <strong>A single-base deletion in the 3-prime coding region of glycogen-debranching enzyme is prevalent in glycogen storage disease type IIIA in a population of North African Jewish patients.</strong> Europ. J. Hum. Genet. 5: 266-270, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9412782/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9412782</a>]" pmid="9412782">Parvari et al., 1997</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9412782" 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="Cohn, J., Wang, P., Hauge, M., Henningsen, K., Jensen, B., Svejgaard, A. <strong>Amylo-1,6-glucosidase deficiency (glycogenosis type III) in the Faroe Island.</strong> Hum. Hered. 25: 115-126, 1975.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1056894/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1056894</a>] [<a href="https://doi.org/10.1159/000152716" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1056894">Cohn et al. (1975)</a> reported 2 families from the Faroe Islands with GSD III deficiency. The distribution supported the assumption of autosomal recessive inheritance. <a href="#30" class="mim-tip-reference" title="Santer, R., Kinner, M., Steuerwald, U., Kjaergaard, S., Skovby, F., Simonsen, H., Shaiu, W.-L., Chen, Y.-T., Schneppenheim, R., Schaub, J. <strong>Molecular genetic basis and prevalence of glycogen storage disease type IIIA in the Faroe Islands.</strong> Europ. J. Hum. Genet. 9: 388-391, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11378828/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11378828</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200632" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11378828">Santer et al. (2001)</a> reported 5 families from the Faroe Islands affected with GSD IIIa. All carried the same mutation in the AGL gene (R408X; <a href="/entry/610860#0013">610860.0013</a>) and were homozygous for the same haplotype, supporting a founder effect. The results predicted a carrier frequency of 1 in 30 and a calculated prevalence of 1 per 3,600 in the Faroese population. The population of 45,000 of this small archipelago in the North Atlantic has its roots in the colonization by Norwegians in the 8th century and throughout the Viking Age. <a href="#30" class="mim-tip-reference" title="Santer, R., Kinner, M., Steuerwald, U., Kjaergaard, S., Skovby, F., Simonsen, H., Shaiu, W.-L., Chen, Y.-T., Schneppenheim, R., Schaub, J. <strong>Molecular genetic basis and prevalence of glycogen storage disease type IIIA in the Faroe Islands.</strong> Europ. J. Hum. Genet. 9: 388-391, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11378828/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11378828</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200632" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11378828">Santer et al. (2001)</a> concluded that due to a founder effect, the Faroe Islands have the highest prevalence of GSD IIIa worldwide. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11378828+1056894" 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="#15" class="mim-tip-reference" title="Fernandes, J. <strong>The history of the glycogen storage disease. (Letter)</strong> Europ. J. Pediat. 154: 423-424, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7671937/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7671937</a>] [<a href="https://doi.org/10.1007/BF02029348" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7671937">Fernandes (1995)</a> stated that <a href="#38" class="mim-tip-reference" title="van Creveld, S. <strong>Over een bijzondere stoornis in de koolhydraatstof-Wisseling in den kinderleeftijd.</strong> Nederl. Maandschr. Geneesk 8: 349-359, 1928."None>van Creveld (1928)</a> published the first clinical description of a patient with glycogen storage disease, a 7-year-old boy who presented with a markedly enlarged liver, obesity, and small genitalia. The initial diagnosis of adiposogenital dystrophy had to be abandoned because of the further clinical and metabolic findings, the results of which were ingeniously interpreted as reflecting increased combustion of fat resulting from 'insufficient mobilization of glycogen.' This was the first reported patient with GSD III, as proved later enzymatically. The description of GSD I by <a href="#40" class="mim-tip-reference" title="von Gierke, E. <strong>Hepato-nephromegalia glykogenica (Glykogenspeicherkrankheit der Leber und Nieren.).</strong> Beitr. Path. Anat. 82: 497-513, 1929."None>von Gierke (1929)</a> came next. <a href="#28" class="mim-tip-reference" title="Pompe, J. C. <strong>Over Idiopathische hypertrophie van het hart.</strong> Ned. Tijdschr. Geneeskd. 76: 304-312, 1932."None>Pompe (1932)</a> described a case of 'idiopathic hypertrophy of the heart,' now known to be GSD II. (Pompe was a close friend of van Creveld and was killed by the Nazi Germans shortly before the liberation of the Netherlands in 1944.) <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7671937" 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="#3" class="mim-tip-reference" title="Ceh, L., Hauge, J. G., Svenkerud, R., Strande, A. <strong>Glycogenosis type III in the dog.</strong> Acta Vet. Scand. 17: 210-222, 1976.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/181976/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">181976</a>] [<a href="https://doi.org/10.1186/BF03547929" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="181976">Ceh et al. (1976)</a> described GSD III in the dog. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=181976" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#Cohen1979" class="mim-tip-reference" title="Cohen, J., Friedman, M. <strong>Renal tubular acidosis associated with type III glycogenosis.</strong> Acta Paediat. Scand. 68: 779-782, 1979.">Cohen and Friedman (1979)</a>; <a href="#Confino1984" class="mim-tip-reference" title="Confino, E., Pauzner, D., Lidor, A., Yedwab, G., David, M. <strong>Pregnancy associated with amylo-1,6-glucosidase deficiency (Forbes' disease): case report.</strong> Brit. J. Obstet. Gynaec. 91: 494-497, 1984.">Confino et al. (1984)</a>; <a href="#Garancis1970" class="mim-tip-reference" title="Garancis, J. C., Panares, R. R., Good, T. A., Kuzma, J. F. <strong>Type 3 glycogenosis. A biochemical and electron microscopic study.</strong> Lab. Invest. 22: 468-477, 1970.">Garancis et al.
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(1970)</a>; <a href="#Miranda1981" class="mim-tip-reference" title="Miranda, A. F., DiMauro, S., Antler, A., Stern, L. Z., Rowland, L. P. <strong>Glycogen debrancher deficiency is reproduced in muscle culture.</strong> Ann. Neurol. 9: 283-288, 1981.">Miranda et al. (1981)</a>; <a href="#Slonim1982" class="mim-tip-reference" title="Slonim, A. E., Weisberg, C., Benke, P., Evans, O. B., Burr, I. M. <strong>Reversal of debrancher deficiency myopathy by the use of high-protein nutrition.</strong> Ann. Neurol. 11: 420-422, 1982.">Slonim et al. (1982)</a>; <a href="#Waaler1970" class="mim-tip-reference" title="Waaler, P. E., Garatun-Tjeldsto, O., Moe, P. J. <strong>Genetic studies in glycogen storage disease type III.</strong> Acta Paediat. Scand. 59: 529-535, 1970.">Waaler et al.
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Aoyama, Y., Ozer, I., Demirkol, M., Ebara, T., Murase, T., Podskarbi, T., Shin, Y. S., Gokcay, G., Okubo, M.
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<strong>Molecular features of 23 patients with glycogen storage disease type III in Turkey: a novel mutation p.R1147G associated with isolated glucosidase deficiency, along with 9 AGL mutations.</strong>
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J. Hum. Genet. 54: 681-686, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19834502/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19834502</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19834502" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/jhg.2009.100" target="_blank">Full Text</a>]
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Brunberg, J. A., McCormick, W. F., Schochet, S. S., Jr.
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<strong>Type III glycogenosis. An adult with diffuse weakness and muscle wasting.</strong>
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Arch. Neurol. 25: 171-178, 1971.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5285455/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5285455</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5285455" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1001/archneur.1971.00490020089011" target="_blank">Full Text</a>]
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Ceh, L., Hauge, J. G., Svenkerud, R., Strande, A.
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<strong>Glycogenosis type III in the dog.</strong>
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Acta Vet. Scand. 17: 210-222, 1976.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/181976/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">181976</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=181976" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1186/BF03547929" target="_blank">Full Text</a>]
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Chen, Y.-T., He, J.-K., Ding, J.-H., Brown, B. I.
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<strong>Glycogen debranching enzyme: purification, antibody characterization, and immunoblot analyses of type III glycogen storage disease.</strong>
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Am. J. Hum. Genet. 41: 1002-1015, 1987.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2961257/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2961257</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2961257" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Cleary, M. A., Walter, J. H., Kerr, B. A., Wraith, J. E.
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<strong>Facial appearance in glycogen storage disease type III.</strong>
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Clin. Dysmorph. 11: 117-120, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12002141/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12002141</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12002141" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<strong>Renal tubular acidosis associated with type III glycogenosis.</strong>
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Acta Paediat. Scand. 68: 779-782, 1979.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/294126/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">294126</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=294126" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1651-2227.1979.tb18458.x" target="_blank">Full Text</a>]
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Cohn, J., Wang, P., Hauge, M., Henningsen, K., Jensen, B., Svejgaard, A.
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<strong>Amylo-1,6-glucosidase deficiency (glycogenosis type III) in the Faroe Island.</strong>
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Hum. Hered. 25: 115-126, 1975.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1056894/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1056894</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1056894" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1159/000152716" target="_blank">Full Text</a>]
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Coleman, R. A., Winter, H. S., Wolf, B., Chen, Y.-T.
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<strong>Glycogen debranching enzyme deficiency: long-term study of serum enzyme activities and clinical features.</strong>
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J. Inherit. Metab. Dis. 15: 869-881, 1992.
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[<a href="https://doi.org/10.1007/BF01800225" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1471-0528.1984.tb04790.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ana.410050504" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1212/01.wnl.0000314731.65875.5c" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/s10038-006-0045-x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jcp.36.4.431" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF02029348" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1023/a:1005572906807" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1097/GIM.0b013e3181e655b6" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.10347" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0016-5085(93)91088-y" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ana.410090311" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320420514" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00443106" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/s004390051017" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.32529" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/(SICI)1098-1004(1997)9:1<37::AID-HUMU6>3.0.CO;2-M" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1172/JCI118799" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jmg.34.1.34" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ana.410110417" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1432-1033.1967.tb00134.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1651-2227.1970.tb16803.x" target="_blank">Full Text</a>]
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Hilary J. Vernon - updated : 09/18/2020
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 12/20/2010<br>Cassandra L. Kniffin - updated : 6/10/2010<br>Cassandra L. Kniffin - updated : 3/3/2009<br>Cassandra L. Kniffin - updated : 2/7/2008<br>Cassandra L. Kniffin - reorganized : 3/22/2007<br>Cassandra L. Kniffin - updated : 3/21/2007<br>Siobhan M. Dolan - updated : 7/2/2004<br>Victor A. McKusick - updated : 5/21/2002<br>Michael B. Petersen - updated : 11/6/2001<br>Victor A. McKusick - updated : 8/17/2000<br>Ada Hamosh - updated : 6/9/2000<br>Victor A. McKusick - updated : 2/17/2000<br>Victor A. McKusick - updated : 12/21/1999<br>Jennifer P. Macke - updated : 12/3/1999<br>Victor A. McKusick - updated : 10/7/1999<br>Ada Hamosh - updated : 6/17/1998<br>Victor A. McKusick - updated : 12/19/1997<br>Jennifer P. Macke - updated : 7/15/1997<br>Victor A. McKusick - updated : 3/28/1997
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/3/1986
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carol : 07/10/2024
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carol : 07/09/2024<br>carol : 07/03/2024<br>carol : 01/26/2021<br>carol : 09/19/2020<br>carol : 09/18/2020<br>joanna : 08/04/2016<br>mcolton : 04/25/2014<br>terry : 3/20/2012<br>terry : 10/11/2011<br>terry : 4/21/2011<br>carol : 2/15/2011<br>ckniffin : 12/20/2010<br>terry : 10/12/2010<br>wwang : 6/11/2010<br>ckniffin : 6/10/2010<br>wwang : 3/10/2009<br>ckniffin : 3/3/2009<br>carol : 2/3/2009<br>terry : 6/6/2008<br>wwang : 2/21/2008<br>ckniffin : 2/7/2008<br>wwang : 11/20/2007<br>terry : 5/9/2007<br>carol : 4/17/2007<br>carol : 3/22/2007<br>carol : 3/22/2007<br>ckniffin : 3/21/2007<br>terry : 11/15/2006<br>ckniffin : 1/5/2006<br>carol : 8/1/2005<br>carol : 7/6/2004<br>terry : 7/2/2004<br>alopez : 3/17/2004<br>cwells : 6/4/2002<br>cwells : 6/3/2002<br>terry : 5/21/2002<br>cwells : 11/9/2001<br>cwells : 11/6/2001<br>cwells : 11/6/2001<br>mcapotos : 8/30/2000<br>mcapotos : 8/30/2000<br>mcapotos : 8/29/2000<br>terry : 8/17/2000<br>alopez : 6/16/2000<br>terry : 6/9/2000<br>alopez : 2/29/2000<br>terry : 2/17/2000<br>carol : 1/28/2000<br>mcapotos : 1/19/2000<br>mcapotos : 1/11/2000<br>mcapotos : 1/7/2000<br>mcapotos : 1/7/2000<br>terry : 12/21/1999<br>alopez : 12/3/1999<br>terry : 11/24/1999<br>carol : 10/7/1999<br>carol : 9/22/1999<br>carol : 3/17/1999<br>alopez : 6/17/1998<br>dholmes : 6/16/1998<br>mark : 1/10/1998<br>terry : 12/19/1997<br>jenny : 9/2/1997<br>jenny : 8/14/1997<br>jenny : 3/31/1997<br>terry : 3/31/1997<br>terry : 3/28/1997<br>terry : 3/20/1997<br>mark : 1/30/1997<br>terry : 1/24/1997<br>terry : 1/24/1997<br>terry : 1/24/1997<br>terry : 1/22/1997<br>mark : 9/6/1996<br>terry : 8/29/1996<br>terry : 3/26/1996<br>terry : 3/26/1996<br>mark : 10/5/1995<br>carol : 1/18/1995<br>davew : 6/2/1994<br>mimadm : 4/13/1994<br>carol : 2/10/1993<br>carol : 11/18/1992
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<span class="mim-font">
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<strong>#</strong> 232400
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<h3>
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<span class="mim-font">
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GLYCOGEN STORAGE DISEASE III; GSD3
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<br />
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<h4>
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<span class="mim-font">
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FORBES DISEASE<br />
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CORI DISEASE<br />
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LIMIT DEXTRINOSIS<br />
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AMYLO-1,6-GLUCOSIDASE DEFICIENCY<br />
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AGL DEFICIENCY<br />
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GLYCOGEN DEBRANCHER DEFICIENCY<br />
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GDE DEFICIENCY
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<span class="mim-font">
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Other entities represented in this entry:
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<span class="h3 mim-font">
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GLYCOGEN STORAGE DISEASE IIIa, INCLUDED; GSD IIIa, INCLUDED
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<span class="h4 mim-font">
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GLYCOGEN STORAGE DISEASE IIIb, INCLUDED; GSD IIIb, INCLUDED<br />
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GLYCOGEN STORAGE DISEASE IIIc, INCLUDED; GSD IIIc, INCLUDED<br />
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GLYCOGEN STORAGE DISEASE IIId, INCLUDED; GSD IIId, INCLUDED
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<strong>SNOMEDCT:</strong> 66937008;
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<strong>ICD10CM:</strong> E74.03;
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<strong>ORPHA:</strong> 366;
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<strong>DO:</strong> 2748;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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</th>
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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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<span class="mim-font">
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1p21.2
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<span class="mim-font">
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Glycogen storage disease IIIb
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<span class="mim-font">
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232400
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<span class="mim-font">
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Autosomal recessive
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<span class="mim-font">
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3
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<span class="mim-font">
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AGL
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610860
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1p21.2
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<span class="mim-font">
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Glycogen storage disease IIIa
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<span class="mim-font">
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232400
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<span class="mim-font">
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Autosomal recessive
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<span class="mim-font">
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3
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<span class="mim-font">
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AGL
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<span class="mim-font">
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610860
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<span class="mim-font">
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<strong>TEXT</strong>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because glycogen storage disease III (GSD3) is caused by homozygous or compound heterozygous mutation in the AGL gene (610860), which encodes the glycogen debrancher enzyme, on chromosome 1p21.</p>
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<strong>Description</strong>
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<span class="mim-text-font">
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<p>Glycogen storage disease III (GSD3) is an autosomal recessive metabolic disorder caused by deficiency of the glycogen debrancher enzyme and associated with an accumulation of abnormal glycogen with short outer chains. Most patients are enzyme-deficient in both liver and muscle (IIIa), but about 15% are enzyme-deficient in liver only (IIIb) (Shen et al., 1996). These subtypes have been explained by differences in tissue expression of the deficient enzyme (Endo et al., 2006). In rare cases, selective loss of only 1 of the 2 debranching activities, glucosidase or transferase, results in type IIIc or IIId, respectively (Van Hoof and Hers, 1967; Ding et al., 1990). </p><p>Clinically, patients with GSD III present in infancy or early childhood with hepatomegaly, hypoglycemia, and growth retardation. Muscle weakness in those with IIIa is minimal in childhood but can become more severe in adults; some patients develop cardiomyopathy (Shen et al., 1996). </p><p>Lucchiari et al. (2007) provided a review of GSD III. </p>
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<strong>Clinical Features</strong>
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<p>Brunberg et al. (1971) reported an adult with GSD III who had diffuse muscle weakness and wasting. DiMauro et al. (1979) reported 5 adult patients with adult-onset, slowly progressive muscle weakness associated with debrancher enzyme deficiency. Two patients had distal muscle wasting, 3 had hepatomegaly, and 2 had congestive heart failure. Electromyography showed a mixed pattern with abundant fibrillations, and serum creatine kinase was increased 5- to 45-fold. Skeletal muscle biopsy showed a vacuolar myopathy with increased glycogen content. DiMauro et al. (1979) suggested that debrancher deficiency myopathy may not be rare and should be considered in the differential diagnosis of adult-onset hereditary myopathies. </p><p>Fellows et al. (1983) reported 2 unrelated adults with GSD III who presented with liver disease, one of whom developed fatal cirrhosis. Both had hepatomegaly since childhood. Histology showed unusual hepatic vacuolation. </p><p>In Israel, Moses et al. (1989) performed cardiologic studies on 20 patients, aged 3 to 30 years, with enzymatically proven GSD IIIa. Seventeen patients showed subclinical evidence of cardiac involvement in the form of ventricular hypertrophy on ECG; 13 of 16 patients in whom an echocardiographic examination was performed had abnormal findings. Only 2 had cardiomegaly on x-ray. Moses et al. (1989) described in detail the findings in a 25-year-old female with clinically evident cardiomyopathy. </p><p>Momoi et al. (1992) reviewed the case histories of 19 Japanese patients with GSD IIIa who developed muscular symptoms at various ages. They divided the patients into 4 groups: one with childhood onset of both muscle weakness and hepatic disorders; one with onset of muscular symptoms in adulthood while liver symptoms started in childhood; one with muscle weakness starting in adulthood long after liver symptoms in childhood had disappeared; and one with only muscle symptoms as adults without any sign or history of liver dysfunction after childhood. </p><p>Coleman et al. (1992) studied 13 patients with GSD III followed from infancy. Activities of serum aspartate and alanine transaminases, lactate dehydrogenase, and alkaline phosphatase were markedly elevated during infancy. The serum enzyme activities declined around puberty concomitantly with a decrease in liver size. Although periportal fibrosis and micronodular cirrhosis indicated the presence of hepatocellular damage during childhood, the decline in serum enzyme activities with age and the absence of overt hepatic dysfunction suggested to the authors that the fibrotic process may not always progress. </p><p>Markowitz et al. (1993) described a white man in whom the diagnosis of GSD III was made on the basis of open liver biopsy at the age of 1 year. At the age of 31 years, he presented with variceal hemorrhage secondary to hepatic cirrhosis. No other cause of the cirrhosis was found, other than deficiency of debranching enzyme, which was documented both in liver and skeletal muscle. </p><p>In a multicenter study in the United States and Canada, Talente et al. (1994) identified 9 patients with GSD III who were 18 years of age or older. Increased creatine kinase activity was observed in 6 patients; 4 had myopathy and cardiomyopathy. One of the patients reported in detail was a 55-year-old man who owned and managed a small business. At age 30, he had gradual onset of weakness in his hands and feet. The distal muscles atrophied, and weakness progressed to include the limb-girdle region. </p><p>Hadjigeorgiou et al. (1999) reported 4 adult Italian patients with GSD IIIa confirmed by molecular analysis. All patients had a history of infantile hepatomegaly followed by myopathy in their twenties. AGL activity and protein were almost absent in muscle specimens. A remarkably severe clinical history was noted in 1 patient, who underwent liver transplantation at 23 years of age and developed a proximal myopathy and an obstructive hypertrophic cardiomyopathy by age 30 years. </p><p>In 7 patients with GSD III, Cleary et al. (2002) identified consistent facial features including midface hypoplasia with a depressed nasal bridge and a broad upturned nasal tip, indistinct philtral pillars, and bow-shaped lips with a thin vermilion border. In addition, younger patients had deep-set eyes. Several children had clinical problems such as persistent otitis media or recurrent sinusitis. The similar features in these patients suggested a distinct facial phenotype for this disorder. </p><p>Schoser et al. (2008) reported a family with variable presentation of GSD III. The 49-year-old female proband presented with hepatomegaly, cardiomyopathy, and moderate progressive proximal limb myopathy. She developed proximal muscle weakness at age 10 and signs and symptoms of cardiomyopathy at age 30. She also had progressive hearing impairment beginning at age 30. Skeletal muscle biopsy showed severe vacuolar myopathy with PAS-positive glycogen storage material that altered the contractile apparatus. Two brothers had died of severe infantile liver cirrhosis, and a sister died with cardiomyopathy, hepatomegaly, and myopathy at age 33. The proband was homozygous for a truncating mutation in the AGL gene. Heterozygous family members had exercise-inducted myalgia and weakness since their teens. Schoser et al. (2008) concluded that, with the exception of early infantile fatal cirrhosis, patients with GSD III may stay ambulatory until adulthood. </p><p>Aoyama et al. (2009) reported a 14-year-old Turkish girl with GSD type IIIc, or isolated glucosidase deficiency, due to homozygosity for an AGL mutation (R1147G; 610860.0014). She had mild hepatomegaly, but no clinical muscle involvement or hypoglycemia. The authors stated that this was the first molecular diagnosis in a patient with GSD IIIc. </p><p><strong><em>Clinical Variability</em></strong></p><p>
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Ebermann et al. (2008) reported an 11-year-old boy, born of Egyptian consanguineous parents, with a phenotype suggestive of Navajo neurohepatopathy (MTDPS6; 256810) including short stature, frequent painless fractures, bruises, and cuts, hepatomegaly with elevated liver enzymes, corneal ulcerations, and mild hypotonia. His 22-month-old sister had short stature, hepatomegaly, increased liver enzymes, and hypotonia. A cousin had died at age 8 years from liver failure. After genetic analysis excluded a mutation in the MPV17 gene (137960), Ebermann et al. (2008) postulated 2 recessive diseases. Genomewide linkage analysis and gene sequencing of the proband identified a homozygous mutation in the AGL gene, consistent with glycogen storage disease III, and a homozygous mutation in the SCN9A gene (603415), consistent with congenital insensitivity to pain (CIPA; 243000). His sister had the AGL mutation and GSD3 only. Ebermann et al. (2008) emphasized that consanguineous matings increase the risk of homozygous genotypes and recessive diseases, which may complicate genetic counseling. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Biochemical Features</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Rosenfeld et al. (1976) reported 5 patients with GSD III from the USSR. All had hypoglycemia after an overnight fast. Liver glycogen was increased and there was complete absence of liver AGL activity. Two patients also had a decrease in liver phosphorylase (232700) activity, and another had a decrease in glucose-6-phosphatase (613742) activity. </p><p>By immunoblot studies, Chen et al. (1987) found absence of the glycogen debranching enzyme in liver and muscle samples from patients with GSD III. Cross-reactive material was detected in liver and muscle samples from patients with other types of glycogen storage disease, indicating that absence of the debranching enzyme in liver and muscle is specific for GSD III. </p>
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</span>
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<div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Diagnosis</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Shen et al. (1997) used 3 polymorphic markers within the AGL gene for linkage analysis of GSD III and showed the potential use of these markers for carrier detection and prenatal diagnosis. </p><p>Kishnani et al. (2010) recommended that the diagnosis of GSD III based on the following: observation of accumulation of abnormal glycogen with short outer branches and deficient debranching enzyme activity in frozen muscle or liver tissue, or identification of biallelic pathogenic mutations in the AGL gene. In GSD IIIa, deficient enzyme activity is found in liver and muscle tissue, whereas in GSD IIIb it is found only in muscle. Mutations causing GSD IIIa are found throughout the gene and molecular diagnosis requires sequencing of the entire AGL gene, whereas there are 2 mutations in exon 3 of AGL that are specifically associated with GSD IIIb (Q6X, 610860.0002 and c.17_18delAG, 610860.0004) and if GSD IIIb is strongly suspected, targeted sequencing of exon 3 may be an appropriate first step. Targeted mutation testing of the AGL gene was recommended for diagnosis of an individual if there is a known familial mutation. Classic laboratory findings that may assist in diagnosis of GSD III include elevated beta-hydroxybutyrate at the time of hypoglycemia, an increase in blood sugar after glucagon stimulation 2 hours after a meal but not after an overnight fast, and normal uric acid and lactate levels. </p>
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<span class="mim-font">
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<strong>Clinical Management</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>Kishnani et al. (2010) developed guidelines for the management of the multisystem effects of GSD III. To manage the potential for cardiomyopathy and arrhythmia, they recommended a baseline echocardiogram at diagnosis and every 12-14 months in GSD IIIa, and at baseline and every 5 years in GSD IIIb, or more frequently if there are symptoms. An ECG to screen for left ventricular hypertrophy and arrhythmia was recommended every 2 years in GSD IIIa, or more frequently if there are symptoms or concerns. To manage the nutritional and gastrointestinal issues in GSD III, Kishnani et al. (2010) recommended seeking the advice of a metabolic dietitian. In infants and small children, fasting should be avoided, and small frequent meals with protein and complex carbohydrates should be provided. Cornstarch should be introduced in the first year of life if hypoglycemia is present, and a bedtime snack, overnight feedings, or cornstarch may be given to avoid overnight fasting. In adolescents and adults, avoidance of fasting and a high protein/low complex carbohydrate diet along with avoidance of simple sugars was recommended. In children, abdominal ultrasound to screen for liver abnormalities was recommended at diagnosis and then every 12-24 months, and in adults abdominal CT or MRI with contrast may be performed every 6-12 months based on clinical or laboratory concerns. Laboratory testing to screen for liver concerns should include aspartate transaminase, alanine transaminase, prothrombin time, bilirubin and albumin every 6-12 months. Physical therapy was recommended to manage the musculoskeletal and endurance issues associated with GSD IIIa, and neuromuscular assessment and management was recommended if weakness or neuropathy was present. Kishnani et al. (2010) recommended the avoidance of medications that might mask symptoms of hypoglycemia (beta-blockers), cause hypoglycemia (sulfonylureas), worsen myopathic symptoms (statins, succinylcholine), or potentially promote liver tumors (estrogens). Careful management to avoid hypoglycemia and other complications during pregnancy and delivery was also recommended. </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In 3 unrelated patients with GSD IIIb, Shen et al. (1996) identified homozygous or compound heterozygous mutations in the AGL gene (see, e.g., 610860.0002-610860.0004). One of the mutations (c.17_18delAG; 610860.0004) was found in 8 of 10 additional GSD IIIb patients. Mutations in exon 3 were present in 12 of 13 GSD IIIb patients, suggesting a specific association. In addition, the identification of exon 3 mutations may have clinical significance because it can distinguish GSD IIIb from IIIa. The 3 patients with GSD IIIb in whom mutations were studied in detail were aged 25 years, 18 years, and 41 years; they had no clinical or laboratory evidence of myopathy or cardiomyopathy. </p><p>Shen et al. (1997) identified a homozygous mutation in the AGL gene (610860.0001) in a child with an unusually severe GSD IIIa phenotype. Okubo et al. (2000) identified 7 different mutations in the AGL gene, including 6 novel mutations, among 8 Japanese GSD IIIa patients from 7 families. </p><p>Shaiu et al. (2000) reported 2 frequent mutations, each of which was found in homozygous state in multiple patients, and each of which was associated with a subset of clinical phenotype in those patients with that mutation. One mutation (IVS32-12A-G; 610860.0006) was identified in homozygosity in a confirmed GSD IIIa Caucasian patient who presented with mild clinical symptoms. This mutation had an allele frequency of approximately 5.5% in GSD III patients tested. The other common mutation (3964delT; 610860.0010) was identified in an African American patient who had a severe phenotype and early onset of clinical symptoms. The mutation was later identified in several other patients and was observed at a frequency of approximately 6.7%. Together, these 2 mutations can account for more than 12% of the molecular defects in GSD III patients. Shaiu et al. (2000) also identified 6 additional mutations and reviewed the nonmutation state. </p><p>Lucchiari et al. (2002) identified 7 novel mutations of the AGL gene in patients with GSD IIIa in the Mediterranean area. </p><p>Endo et al. (2006) identified 9 different mutations in the AGL gene, including 6 novel mutations, among 9 patients with GSD III. The patients were from Germany, Canada, Afghanistan, Iran, and Turkey. </p><p>Aoyama et al. (2009) identified 10 different AGL mutations, including 8 novel mutations (see, e.g., 610860.0014 and 610860.0015), in 23 Turkish patients with GSD III. No genotype/phenotype correlations were observed. </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Population Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In Israel, 73% of glycogen storage disease was of type III. All cases were non-Ashkenazim, being mainly of North African extraction, in which group the incidence was 1 in 5,420 (Levin et al., 1967). </p><p>The overall incidence of GSD III is about 1 in 100,000 live births in the U.S.; however, it is unusually frequent among North African Jewish individuals in Israel (1 in 5,400 with a carrier frequency of 1 in 35) (Parvari et al., 1997). </p><p>Cohn et al. (1975) reported 2 families from the Faroe Islands with GSD III deficiency. The distribution supported the assumption of autosomal recessive inheritance. Santer et al. (2001) reported 5 families from the Faroe Islands affected with GSD IIIa. All carried the same mutation in the AGL gene (R408X; 610860.0013) and were homozygous for the same haplotype, supporting a founder effect. The results predicted a carrier frequency of 1 in 30 and a calculated prevalence of 1 per 3,600 in the Faroese population. The population of 45,000 of this small archipelago in the North Atlantic has its roots in the colonization by Norwegians in the 8th century and throughout the Viking Age. Santer et al. (2001) concluded that due to a founder effect, the Faroe Islands have the highest prevalence of GSD IIIa worldwide. </p>
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</span>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>History</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Fernandes (1995) stated that van Creveld (1928) published the first clinical description of a patient with glycogen storage disease, a 7-year-old boy who presented with a markedly enlarged liver, obesity, and small genitalia. The initial diagnosis of adiposogenital dystrophy had to be abandoned because of the further clinical and metabolic findings, the results of which were ingeniously interpreted as reflecting increased combustion of fat resulting from 'insufficient mobilization of glycogen.' This was the first reported patient with GSD III, as proved later enzymatically. The description of GSD I by von Gierke (1929) came next. Pompe (1932) described a case of 'idiopathic hypertrophy of the heart,' now known to be GSD II. (Pompe was a close friend of van Creveld and was killed by the Nazi Germans shortly before the liberation of the Netherlands in 1944.) </p>
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</span>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Ceh et al. (1976) described GSD III in the dog. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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Cohen and Friedman (1979); Confino et al. (1984); Garancis et al.
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(1970); Miranda et al. (1981); Slonim et al. (1982); Waaler et al.
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(1970)
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<strong>Molecular features of 23 patients with glycogen storage disease type III in Turkey: a novel mutation p.R1147G associated with isolated glucosidase deficiency, along with 9 AGL mutations.</strong>
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J. Hum. Genet. 54: 681-686, 2009.
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<p class="mim-text-font">
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Brunberg, J. A., McCormick, W. F., Schochet, S. S., Jr.
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<strong>Type III glycogenosis. An adult with diffuse weakness and muscle wasting.</strong>
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Arch. Neurol. 25: 171-178, 1971.
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Ceh, L., Hauge, J. G., Svenkerud, R., Strande, A.
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Hum. Hered. 25: 115-126, 1975.
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J. Inherit. Metab. Dis. 15: 869-881, 1992.
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Confino, E., Pauzner, D., Lidor, A., Yedwab, G., David, M.
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<strong>Pregnancy associated with amylo-1,6-glucosidase deficiency (Forbes' disease): case report.</strong>
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Brit. J. Obstet. Gynaec. 91: 494-497, 1984.
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DiMauro, S., Hartwig, G. B., Hays, A., Eastwood, A. B., Franco, R., Olarte, M., Chang, M., Roses, A. D., Fetell, M., Schoenfeldt, R. S., Stern, L. Z.
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<strong>Debrancher deficiency: neuromuscular disorder in 5 adults.</strong>
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Ann. Neurol. 5: 422-436, 1979.
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Ding, J.-H., de Barsy, T., Brown, B. I., Coleman, R. A., Chen, Y.-T.
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<strong>Immunoblot analyses of glycogen debranching enzyme in different subtypes of glycogen storage disease type III.</strong>
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J. Pediat. 116: 95-100, 1990.
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Ebermann, I., Elsayed, S. M., Abdel-Ghaffar, T. Y., Nurnberg, G., Nurnberg, P., Elsobky, E., Bolz, H. J.
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<strong>Double homozygosity for mutations of AGL and SCN9A mimicking neurohepatopathy syndrome.</strong>
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Neurology 70: 2343-2344, 2008.
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Endo, Y., Horinishi, A., Vorgerd, M., Aoyama, Y., Ebara, T., Murase, T., Odawara, M., Podskarbi, T., Shin, Y. S., Okubo, M.
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Fellows, I. W., Lowe, J. S., Ogilvie, A., Stevens, A., Toghill, P. J., Atkinson, M.
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<strong>Type III glycogenosis presenting as liver disease in adults with atypical histological features.</strong>
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J. Clin. Path. 36: 431-434, 1983.
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Fernandes, J.
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Europ. J. Pediat. 154: 423-424, 1995.
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Garancis, J. C., Panares, R. R., Good, T. A., Kuzma, J. F.
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<strong>Type 3 glycogenosis. A biochemical and electron microscopic study.</strong>
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Lab. Invest. 22: 468-477, 1970.
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<p class="mim-text-font">
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Hadjigeorgiou, G. M., Comi, G. P., Bordoni, A., Shen, J., Chen, Y.-T., Salani, S., Toscano, A., Fortunato, F., Lucchiari, S., Bresolin, N., Rodolico, C., Piscaglia, M. G., Franceschina, L., Papadimitriou, A., Scarlato, G.
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<strong>Novel donor splice site mutations of AGL gene in glycogen storage disease type IIIa.</strong>
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</p>
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<li>
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<p class="mim-text-font">
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Kishnani, P. S., Austin, S. L., Arn, P., Bali, D. S., Boney, A., Case, L. E., Chung, W. K., Desai, D. M., El-Gharbawy, A., Haller, R., Smit, G. P. A., Smith, A. D., Hobson-Webb, L. D., Wechsler, S. B, Weinstein, D. A., Watson, M. S.
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<strong>Glycogen storage disease type III diagnosis and management guidelines.</strong>
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Genet. Med. 12: 446-463, 2010. Note: Erratum: Genet. Med. 12: 566 only, 2010.
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[PubMed: 20631546]
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[Full Text: https://doi.org/10.1097/GIM.0b013e3181e655b6]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Levin, S., Moses, S. W., Chayoth, R., Jadoga, N., Steinitz, K.
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<strong>Glycogen storage disease in Israel. A clinical, biochemical and genetic study.</strong>
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Isr. J. Med. Sci. 3: 397-410, 1967.
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[PubMed: 5317551]
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</li>
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<li>
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<p class="mim-text-font">
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Lucchiari, S., Fogh, I., Prelle, A., Parini, R., Bresolin, N., Melis, D., Fiori, L., Scarlato, G., Comi, G. P.
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<strong>Clinical and genetic variability of glycogen storage disease type IIIa: seven novel AGL gene mutations in the Mediterranean area.</strong>
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Am. J. Med. Genet. 109: 183-190, 2002.
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[PubMed: 11977176]
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[Full Text: https://doi.org/10.1002/ajmg.10347]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Lucchiari, S., Santoro, D., Pagliarani, S., Comi, G. P.
|
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<strong>Clinical, biochemical and genetic features of glycogen debranching enzyme deficiency.</strong>
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|
Acta Myol. 26: 72-74, 2007.
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[PubMed: 17915576]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Markowitz, A. J., Chen, Y.-T., Muenzer, J., Delbuono, E. A., Lucey, M. R.
|
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<strong>A man with type III glycogenosis associated with cirrhosis and portal hypertension.</strong>
|
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Gastroenterology 105: 1882-1885, 1993.
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[PubMed: 8253364]
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[Full Text: https://doi.org/10.1016/0016-5085(93)91088-y]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Miranda, A. F., DiMauro, S., Antler, A., Stern, L. Z., Rowland, L. P.
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Ada Hamosh, MD, MPH <br />
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Scientific Director, OMIM <br />
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