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Entry
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- #232500 - GLYCOGEN STORAGE DISEASE IV; GSD4
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- OMIM
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<p>
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<span class="h4">#232500</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/232500"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS232200"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#diagnosis">Diagnosis</a>
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<a href="#clinicalManagement">Clinical Management</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=GLYCOGEN STORAGE DISEASE IV" 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="#mimEuroGentestFold" id="mimEuroGentestToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A list of European laboratories that offer genetic testing."><span id="mimEuroGentestToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>EuroGentest</div>
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<div id="mimEuroGentestFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=21325&Typ=Pat" title="Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Glycogen storage disease d… </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=21326&Typ=Pat" title="Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Glycogen storage disease d… </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=21327&Typ=Pat" title="Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Glycogen storage disease d… </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=21328&Typ=Pat" title="Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Glycogen storage disease d… </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=21329&Typ=Pat" title="Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Glycogen storage disease d… </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=21330&Typ=Pat" title="Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Glycogen storage disease d… </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=21331&Typ=Pat" title="Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Glycogen storage disease d… </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=16&Typ=Pat" title="Glycogen storage disease due to glycogen branching enzyme deficiency" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Glycogen storage disease d… </a></div>
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</div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK115333/" 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/3124" 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-iv" 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=232500[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="#mimOrphanetFold" id="mimOrphanetToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="European reference portal for information on rare diseases and orphan drugs."><span id="mimOrphanetToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Orphanet</div>
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<div id="mimOrphanetFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=308621" title="Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Glycogen storage disease d…</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=308638" title="Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Glycogen storage disease d…</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=308655" title="Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Glycogen storage disease d…</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=308670" title="Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Glycogen storage disease d…</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=308684" title="Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Glycogen storage disease d…</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=308698" title="Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Glycogen storage disease d…</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=308712" title="Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Glycogen storage disease d…</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=367" title="Glycogen storage disease due to glycogen branching enzyme deficiency" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Glycogen storage disease d…</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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<div style="display: table-cell;">Animal Models</div>
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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:2750" 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/232500" 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/OMIA000420/" 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:2750" 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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<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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</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:232500" 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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</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> 11179002, 124267007<br />
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<strong>ICD10CM:</strong> E74.09<br />
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<strong>ORPHA:</strong> 308621, 308638, 308655, 308670, 308684, 308698, 308712, 367<br />
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<strong>DO:</strong> 2750<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>
|
|
232500
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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 IV; GSD4
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</span>
|
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</h3>
|
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</div>
|
|
<div>
|
|
<br />
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</div>
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|
<div>
|
|
<a id="alternativeTitles" class="mim-anchor"></a>
|
|
<div>
|
|
<p>
|
|
<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
GSD IV<br />
|
|
GLYCOGEN BRANCHING ENZYME DEFICIENCY<br />
|
|
GBE1 DEFICIENCY<br />
|
|
ANDERSEN DISEASE<br />
|
|
BRANCHER DEFICIENCY<br />
|
|
GLYCOGENOSIS IV<br />
|
|
AMYLOPECTINOSIS<br />
|
|
CIRRHOSIS, FAMILIAL, WITH DEPOSITION OF ABNORMAL GLYCOGEN
|
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</span>
|
|
</h4>
|
|
</div>
|
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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>
|
|
<a id="includedTitles" class="mim-anchor"></a>
|
|
<div>
|
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<p>
|
|
<span class="mim-font">
|
|
Other entities represented in this entry:
|
|
</span>
|
|
</p>
|
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</div>
|
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<div>
|
|
<span class="h3 mim-font">
|
|
GSD IV, CLASSIC HEPATIC, INCLUDED
|
|
</span>
|
|
</div>
|
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<div>
|
|
<span class="h4 mim-font">
|
|
|
|
GSD IV, NONPROGRESSIVE HEPATIC, INCLUDED<br />
|
|
GSD IV, NEUROMUSCULAR FORM, FATAL PERINATAL, INCLUDED<br />
|
|
GSD IV, NEUROMUSCULAR FORM, CONGENITAL, INCLUDED<br />
|
|
GSD IV, NEUROMUSCULAR FORM, CHILDHOOD, INCLUDED<br />
|
|
GSD IV, NEUROMUSCULAR FORM, ADULT, WITH ISOLATED MYOPATHY, INCLUDED
|
|
</span>
|
|
</div>
|
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|
</div>
|
|
<div>
|
|
<br />
|
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</div>
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</div>
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<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>
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</tr>
|
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</thead>
|
|
<tbody>
|
|
|
|
<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">
|
|
Glycogen storage disease IV
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/232500"> 232500 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
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|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
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|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
GBE1
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607839"> 607839 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
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</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
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|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/232500" 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/232500" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/232500" 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> Other </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Failure to thrive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/432788009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">432788009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/54840006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">54840006</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/783.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">783.41</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0015544&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0015544</a>, <a href="https://bioportal.bioontology.org/search?q=C2315100&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2315100</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001508</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001508</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> CARDIOVASCULAR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Heart </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Cardiomyopathy (in a subset of patients) <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 />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> ABDOMEN </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Ascites <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/389026000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">389026000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R18" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R18</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R18.8" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R18.8</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/789.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">789.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0003962&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003962</a>, <a href="https://bioportal.bioontology.org/search?q=C5441966&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5441966</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001541" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001541</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0030995" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030995</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001541" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001541</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Liver </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Cirrhosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/19943007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">19943007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K74.60" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K74.60</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0023890&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0023890</a>, <a href="https://bioportal.bioontology.org/search?q=C1623038&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1623038</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001394" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001394</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001394" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001394</a>]</span><br /> -
|
|
Portal hypertension <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/34742003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">34742003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K76.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K76.6</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/572.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">572.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020541&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020541</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001409" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001409</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001409" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001409</a>]</span><br /> -
|
|
Hepatosplenomegaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/36760000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">36760000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R16.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R16.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0019214&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0019214</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001433" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001433</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001433" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001433</a>]</span><br /> -
|
|
Liver biopsy shows diffuse interstitial fibrosis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856310&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856310</a>]</span><br /> -
|
|
Enlarged hepatocytes with periodic acid-Schiff-positive, diastase-resistant inclusions <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856311&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856311</a>]</span><br /> -
|
|
Electron microscopy shows fibrillar aggregations typical of amylopectin <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856312&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856312</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
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|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Gastrointestinal </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Esophageal varices <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/28670008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">28670008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I85.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I85.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/I85" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I85</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/I85.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I85.00</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0014867&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0014867</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002040" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002040</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002040" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002040</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
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|
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|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKELETAL </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Arthrogryposis multiplex (in perinatal or congenital neuromuscular forms) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3806325&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3806325</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/205402004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">205402004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q74.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q74.3</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002804" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002804</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MUSCLE, SOFT TISSUES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Muscle weakness <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/26544005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">26544005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151786&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151786</a>, <a href="https://bioportal.bioontology.org/search?q=C0030552&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0030552</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001324" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001324</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001324" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001324</a>]</span><br /> -
|
|
Muscle atrophy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/88092000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">88092000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0541794&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0541794</a>, <a href="https://bioportal.bioontology.org/search?q=C0026846&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026846</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003202" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003202</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003202" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003202</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> NEUROLOGIC </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Central Nervous System </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hypotonia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398151007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398151007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398152000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398152000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026827&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026827</a>, <a href="https://bioportal.bioontology.org/search?q=C1858120&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1858120</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001290" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001290</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001252</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001252</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Peripheral Nervous System </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Decreased to absent deep tendon reflexes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1866934&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1866934</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001315" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001315</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001315" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001315</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
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|
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|
|
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|
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|
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|
|
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|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> PRENATAL MANIFESTATIONS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Movement </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Decreased fetal movement (in perinatal or congenital neuromuscular forms) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856307&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856307</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/276369006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">276369006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/O36.8190" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">O36.8190</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/O36.81" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">O36.81</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001558" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001558</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Amniotic Fluid </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Polyhydramnios (in perinatal or congenital neuromuscular forms) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856308&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856308</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/86203003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">86203003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/O40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">O40</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/657.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">657.0</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/657" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">657</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001561" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001561</a>]</span><br /> -
|
|
Fetal hydrops (in perinatal or congenital neuromuscular forms) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856309&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856309</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/276508000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">276508000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/P83.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">P83.2</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> LABORATORY ABNORMALITIES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Amylo(1,4 - 1,6) transglucosidase deficiency (brancher enzyme) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856314&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856314</a>]</span><br /> -
|
|
Broad tissue deposition of amylopectin-like material <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856315&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856315</a>]</span><br /> -
|
|
Normal serum creatine kinase <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1850678&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1850678</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Extreme clinical heterogeneity<br /> -
|
|
Classic hepatic form begins in first months of life with hepatic failure and death by age 5 years<br /> -
|
|
Nonprogressive hepatic form is less frequent<br /> -
|
|
Neuromuscular forms can present as perinate, infant, child, or adult<br /> -
|
|
Allelic disorder to adult polyglucosan body disease (<a href="/entry/263570">263570</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Caused by mutation in the glycogen branching enzyme gene (GBE1, <a href="/entry/607839#0001">607839.0001</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Glycogen storage disease
|
|
- <a href="/phenotypicSeries/PS232200">PS232200</a>
|
|
- 24 Entries
|
|
</h5>
|
|
</div>
|
|
</div>
|
|
|
|
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
|
<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
|
<thead>
|
|
<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Location</strong>
|
|
</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
|
<strong>Phenotype</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Inheritance</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />mapping key</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />MIM number</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus<br />MIM number</strong>
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/681?start=-3&limit=10&highlight=681"> 1p31.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614921"> Congenital disorder of glycosylation, type It </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614921"> 614921 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/171900"> PGM1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/171900"> 171900 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/832?start=-3&limit=10&highlight=832"> 1p21.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/232400"> Glycogen storage disease IIIa </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/232400"> 232400 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610860"> AGL </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610860"> 610860 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/832?start=-3&limit=10&highlight=832"> 1p21.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/232400"> Glycogen storage disease IIIb </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/232400"> 232400 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610860"> AGL </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610860"> 610860 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/472?start=-3&limit=10&highlight=472"> 3p12.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/232500"> Glycogen storage disease IV </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/232500"> 232500 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607839"> GBE1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607839"> 607839 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/763?start=-3&limit=10&highlight=763"> 3q24 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613507"> ?Glycogen storage disease XV </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613507"> 613507 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603942"> GYG1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603942"> 603942 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/7/225?start=-3&limit=10&highlight=225"> 7p13 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/261670"> Glycogen storage disease X </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/261670"> 261670 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612931"> PGAM2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612931"> 612931 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/7/840?start=-3&limit=10&highlight=840"> 7q36.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/261740"> Glycogen storage disease of heart, lethal congenital </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/261740"> 261740 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602743"> PRKAG2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602743"> 602743 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/223?start=-3&limit=10&highlight=223"> 11p15.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612933"> Glycogen storage disease XI </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612933"> 612933 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/150000"> LDHA </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/150000"> 150000 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/558?start=-3&limit=10&highlight=558"> 11q13.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/232600"> McArdle disease </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/232600"> 232600 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608455"> PYGM </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608455"> 608455 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/1001?start=-3&limit=10&highlight=1001"> 11q23.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/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/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/12/227?start=-3&limit=10&highlight=227"> 12p12.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/240600"> Glycogen storage disease 0, liver </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/240600"> 240600 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/138571"> GYS2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/138571"> 138571 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/12/327?start=-3&limit=10&highlight=327"> 12q13.11 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/232800"> Glycogen storage disease VII </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/232800"> 232800 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610681"> PFKM </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610681"> 610681 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/14/229?start=-3&limit=10&highlight=229"> 14q22.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/232700"> Glycogen storage disease VI </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/232700"> 232700 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613741"> PYGL </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613741"> 613741 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/16/342?start=-3&limit=10&highlight=342"> 16p11.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611881"> Glycogen storage disease XII </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611881"> 611881 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/103850"> ALDOA </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/103850"> 103850 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/16/364?start=-3&limit=10&highlight=364"> 16p11.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613027"> Glycogen storage disease IXc </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613027"> 613027 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/172471"> PHKG2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/172471"> 172471 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/16/414?start=-3&limit=10&highlight=414"> 16q12.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/261750"> Phosphorylase kinase deficiency of liver and muscle, autosomal recessive </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/261750"> 261750 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/172490"> PHKB </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/172490"> 172490 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/17/96?start=-3&limit=10&highlight=96"> 17p13.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612932"> Glycogen storage disease XIII </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612932"> 612932 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/131370"> ENO3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/131370"> 131370 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/17/603?start=-3&limit=10&highlight=603"> 17q21.31 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/232200"> Glycogen storage disease Ia </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/232200"> 232200 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613742"> G6PC </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613742"> 613742 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/17/1014?start=-3&limit=10&highlight=1014"> 17q25.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/232300"> Glycogen storage disease II </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/232300"> 232300 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606800"> GAA </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606800"> 606800 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/19/921?start=-3&limit=10&highlight=921"> 19q13.33 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611556"> Glycogen storage disease 0, muscle </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611556"> 611556 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/138570"> GYS1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/138570"> 138570 </a>
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<p>A number sign (#) is used with this entry because glycogen storage disease IV (GSD4) is caused by homozygous or compound heterozygous mutation in the GBE1 gene (<a href="/entry/607839">607839</a>), which encodes the glycogen branching enzyme, on chromosome 3p12.</p><p>Mutation in the GBE1 gene also causes an allelic disorder, adult polyglucosan body neuropathy (APBN; <a href="/entry/263570">263570</a>).</p>
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<p>Glycogen storage disease IV (GSD4) is a clinically heterogeneous disorder. The typical 'classic' hepatic presentation is liver disease of childhood, progressing to lethal cirrhosis. The neuromuscular presentation of GSD IV is distinguished by age at onset into 4 groups: perinatal, presenting as fetal akinesia deformation sequence (FADS) and perinatal death; congenital, with hypotonia, neuronal involvement, and death in early infancy; childhood, with myopathy or cardiomyopathy; and adult, with isolated myopathy or adult polyglucosan body disease (<a href="#9" class="mim-tip-reference" title="Bruno, C., van Diggelen, O. P., Cassandrini, D., Gimpelev, M., Giuffre, B., Donati, M. A., Introvini, P., Alegria, A., Assereto, S., Morandi, L., Mora, M., Tonoli, E., Mascelli, S., Traverso, M., Pasquini, E., Bado, M., Vilarinho, L., van Noort, G., Mosca, F., DiMauro, S., Zara, F., Minetti, C. <strong>Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV).</strong> Neurology 63: 1053-1058, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15452297/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15452297</a>] [<a href="https://doi.org/10.1212/01.wnl.0000138429.11433.0d" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15452297">Bruno et al., 2004</a>). The enzyme deficiency results in tissue accumulation of abnormal glycogen with fewer branching points and longer outer branches, resembling an amylopectin-like structure, also known as polyglucosan (<a href="#31" class="mim-tip-reference" title="Tay, S. K. H., Akman, H. O., Chung, W. K., Pike, M. G., Muntoni, F., Hays, A. P., Shanske, S., Valberg, S. J., Mickelson, J. R., Tanji, K., DiMauro, S. <strong>Fatal infantile neuromuscular presentation of glycogen storage disease type IV.</strong> Neuromusc. Disord. 14: 253-260, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15019703/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15019703</a>] [<a href="https://doi.org/10.1016/j.nmd.2003.12.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15019703">Tay et al., 2004</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15452297+15019703" 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="Bruno, C., Cassandrini, D., Assereto, S., Akman, H. O., Minetti, C., Di Mauro, S. <strong>Neuromuscular forms of glycogen branching enzyme deficiency.</strong> Acta Myol. 26: 75-78, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17915577/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17915577</a>]" pmid="17915577">Bruno et al. (2007)</a> provided a review of the neuromuscular forms of glycogen branching enzyme deficiency. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17915577" 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><strong><em>Classic Hepatic Form</em></strong></p><p>
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<a href="#2" class="mim-tip-reference" title="Andersen, D. H. <strong>Familial cirrhosis of the liver with storage of abnormal glycogen.</strong> Lab. Invest. 5: 11-20, 1956.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13279125/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13279125</a>]" pmid="13279125">Andersen (1956)</a> originally reported GSD IV as 'familial cirrhosis of the liver with storage of abnormal glycogen.' <a href="#6" class="mim-tip-reference" title="Brown, B. I., Brown, D. H. <strong>Lack of an alpha-1,4-glucan: alpha-1,4-glucan 6-glycosyl transferase in a case of type IV glycogenosis.</strong> Proc. Nat. Acad. Sci. 56: 725-729, 1966.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5229990/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5229990</a>] [<a href="https://doi.org/10.1073/pnas.56.2.725" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5229990">Brown and Brown (1966)</a> determined that the defect in GSD IV was a deficiency of the alpha-1,4-glucan branching enzyme. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5229990+13279125" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Bao, Y., Kishnani, P., Wu, J.-Y., Chen, Y.-T. <strong>Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene.</strong> J. Clin. Invest. 97: 941-948, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8613547/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8613547</a>] [<a href="https://doi.org/10.1172/JCI118517" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8613547">Bao et al. (1996)</a> noted that the most common form of GSD IV presents in the first 18 months of life with failure to thrive, hepatosplenomegaly, and liver cirrhosis. There is progression to portal hypertension, ascites, and liver failure, leading to death by age 5 years. A simple iodine test shows formation of a blue colored complex of glycogen and iodine. The liver shows the main involvement, resulting from a defect of amylo(1,4 to 1,6) transglucosidase (brancher enzyme). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8613547" 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>Nonprogressive Hepatic Form</em></strong></p><p>
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Less frequently, patients may have liver dysfunction without liver failure, referred to as 'nonprogressive hepatic GSD IV.' <a href="#14" class="mim-tip-reference" title="Greene, H. L., Brown, B. I., McClenathan, D. T., Agostini, R. M., Jr., Taylor, S. R. <strong>A new variant of type IV glycogenosis: deficiency of branching enzyme activity without apparent progressive liver disease.</strong> Hepatology 8: 302-306, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3162725/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3162725</a>] [<a href="https://doi.org/10.1002/hep.1840080219" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3162725">Greene et al. (1988)</a> reported a 5-year-old boy who was first noted to have elevated serum transaminase levels and hepatomegaly at age 2 years following an acute febrile illness. Successive liver biopsies showed hepatocellular periodic-acid Schiff-positive diastase-resistant inclusions and hepatic fibrosis that was nonprogressive over 3 years. Enzymatic assays showed deficient branching enzyme in liver, skeletal muscle, and skin fibroblasts. The child showed normal growth and development. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3162725" 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="McConkie-Rosell, A., Wilson, C., Piccoli, D. A., Boyle, J., DeClue, T., Kishnani, P., Shen, J.-J., Boney, A., Brown, B., Chen, Y. T. <strong>Clinical and laboratory findings in four patients with the non-progressive hepatic form of type IV glycogen storage disease.</strong> J. Inherit. Metab. Dis. 19: 51-58, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8830177/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8830177</a>] [<a href="https://doi.org/10.1007/BF01799348" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8830177">McConkie-Rosell et al. (1996)</a> found that 6 patients with nonprogressive hepatic GSD IV did not develop progressive liver cirrhosis, cardiac, or neurologic involvement, despite residual branching enzyme activity in skin fibroblasts that was indistinguishable from patients with more severe forms of GSD IV. The authors concluded that residual enzyme activity could not be used to predict the clinical course in GSD IV, that not all patients require liver transplant, and that caution should be used in genetic counseling. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8830177" 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>Fatal Perinatal Neuromuscular Form</em></strong></p><p>
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<a href="#1" class="mim-tip-reference" title="Alegria, A., Martins, E., Dias, M., Cunha, A., Cardoso, M. L., Maire, I. <strong>Glycogen storage disease type IV presenting as hydrops fetalis.</strong> J. Inherit. Metab. Dis. 22: 330-332, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10384399/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10384399</a>] [<a href="https://doi.org/10.1023/a:1005568507267" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10384399">Alegria et al. (1999)</a> reported hydrops fetalis as a presenting manifestation of glycogen storage disease type IV. The infant, delivered by cesarean section at 34 weeks, had generalized edema, severe hypotonia, and arthrogryposis of the lower limbs at birth. There were no signs of cirrhosis or liver failure. She died on the fourth day of life. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10384399" 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="#11" class="mim-tip-reference" title="Cox, P. M., Brueton, L. A., Murphy, K. W., Worthington, V. C., Bjelogrlic, P., Lazda, E. J., Sabire, N. J., Sewry, C. A. <strong>Early-onset fetal hydrops and muscle degeneration in siblings due to a novel variant of type IV glycogenosis.</strong> Am. J. Med. Genet. 86: 187-193, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10449659/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10449659</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19990910)86:2<187::aid-ajmg20>3.0.co;2-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10449659">Cox et al. (1999)</a> reported 3 sib fetuses who were shown to have type IV glycogen storage disease by pathologic and biochemical studies, with onset of hydrops, limb contractures, and akinesia in the early second trimester. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10449659" 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>Congenital Neuromuscular Form</em></strong></p><p>
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<a href="#32" class="mim-tip-reference" title="Zellweger, H., Mueller, S., Ionasescu, V., Schochet, S. S., McCormick, W. F. <strong>Glycogenosis. IV. A new cause of infantile hypotonia.</strong> J. Pediat. 80: 842-844, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4502299/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4502299</a>] [<a href="https://doi.org/10.1016/s0022-3476(72)80144-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4502299">Zellweger et al. (1972)</a> reported infantile onset of GSD IV with hypotonia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4502299" 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="McMaster, K. R., Powers, J. M., Hennigar, G. R., Jr., Wohltmann, H. J., Farr, G. H., Jr. <strong>Nervous system involvement in type IV glycogenosis.</strong> Arch. Path. Lab. Med. 103: 105-111, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/284761/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">284761</a>]" pmid="284761">McMaster et al. (1979)</a> reported a 30-month old girl with GSD IV in whom extensive involvement of the nervous system was found at autopsy. In a review of the literature, the authors noted that approximately 50% of GSD IV patients have neuromuscular signs and symptoms. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=284761" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#30" class="mim-tip-reference" title="Tang, T. T., Segura, A. D., Chen, Y.-T., Ricci, L. M., Franciosi, R. A., Splaingard, M. L., Lubinsky, M. S. <strong>Neonatal hypotonia and cardiomyopathy secondary to type IV glycogenosis.</strong> Acta Neuropath. 87: 531-536, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8059607/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8059607</a>] [<a href="https://doi.org/10.1007/BF00294181" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8059607">Tang et al. (1994)</a> reported a neonate with GSD IV who presented with severe hypotonia and dilated cardiomyopathy. The classic clinical manifestation of liver cirrhosis was not present, although amylopectin-like inclusions were found in hepatocytes. He died of cardiorespiratory failure at 4 weeks of age. In the child reported by <a href="#30" class="mim-tip-reference" title="Tang, T. T., Segura, A. D., Chen, Y.-T., Ricci, L. M., Franciosi, R. A., Splaingard, M. L., Lubinsky, M. S. <strong>Neonatal hypotonia and cardiomyopathy secondary to type IV glycogenosis.</strong> Acta Neuropath. 87: 531-536, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8059607/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8059607</a>] [<a href="https://doi.org/10.1007/BF00294181" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8059607">Tang et al. (1994)</a>, <a href="#5" class="mim-tip-reference" title="Bao, Y., Kishnani, P., Wu, J.-Y., Chen, Y.-T. <strong>Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene.</strong> J. Clin. Invest. 97: 941-948, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8613547/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8613547</a>] [<a href="https://doi.org/10.1172/JCI118517" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8613547">Bao et al. (1996)</a> identified a mutation in the GBE1 gene (<a href="/entry/607839#0001">607839.0001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8059607+8613547" 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="Tay, S. K. H., Akman, H. O., Chung, W. K., Pike, M. G., Muntoni, F., Hays, A. P., Shanske, S., Valberg, S. J., Mickelson, J. R., Tanji, K., DiMauro, S. <strong>Fatal infantile neuromuscular presentation of glycogen storage disease type IV.</strong> Neuromusc. Disord. 14: 253-260, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15019703/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15019703</a>] [<a href="https://doi.org/10.1016/j.nmd.2003.12.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15019703">Tay et al. (2004)</a> reported 2 unrelated patients with the congenital variant of GSD IV confirmed by mutation in the GBE1 gene (<a href="/entry/607839#0008">607839.0008</a>). Both pregnancies were complicated by polyhydramnios, and both neonates showed hypotonia and poor respiratory effort at birth. Only 1 had contractures. Both died within the first weeks of life. Branching enzyme activities were 0.9% and 0.8% of normal controls. Postmortem examination of 1 infant showed pale, atrophic skeletal muscles, and PAS-positive, diastase-resistant globules in liver, heart, skeletal muscle, and neurons of the brain and spinal cord. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15019703" 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="#9" class="mim-tip-reference" title="Bruno, C., van Diggelen, O. P., Cassandrini, D., Gimpelev, M., Giuffre, B., Donati, M. A., Introvini, P., Alegria, A., Assereto, S., Morandi, L., Mora, M., Tonoli, E., Mascelli, S., Traverso, M., Pasquini, E., Bado, M., Vilarinho, L., van Noort, G., Mosca, F., DiMauro, S., Zara, F., Minetti, C. <strong>Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV).</strong> Neurology 63: 1053-1058, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15452297/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15452297</a>] [<a href="https://doi.org/10.1212/01.wnl.0000138429.11433.0d" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15452297">Bruno et al. (2004)</a> reported 2 sibs with congenital GSD IV confirmed by mutation in the GBE1 gene (<a href="/entry/607839#0011">607839.0011</a>; <a href="/entry/607839#0012">607839.0012</a>). In both cases, pregnancy was complicated by polyhydramnios, reduced fetal movements, and fetal hydrops. At birth, both infants had severe hypotonia, hyporeflexia, and no spontaneous respiration. Death occurred at ages 4 months and 4 weeks, respectively, due to cardiorespiratory failure. Autopsy showed hypertrophy of the left cardiac ventricle. Residual GBE1 activity in fibroblasts was less than 5%. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15452297" 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="#3" class="mim-tip-reference" title="Assereto, S., van Diggelen, O. P., Diogo, L., Morava, E., Cassandrini, D., Carreira, I., de Boode, W.-P., Dilling, J., Garcia, P., Henriques, M., Rebelo, O., ter Laak, H., Minetti, C., Bruno, C. <strong>Null mutations and lethal congenital forms of glycogen storage disease type IV.</strong> Biochem. Biophys. Res. Commun. 361: 445-450, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17662246/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17662246</a>] [<a href="https://doi.org/10.1016/j.bbrc.2007.07.074" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17662246">Assereto et al. (2007)</a> reported 2 unrelated newborns who showed severe hypotonia at birth and died of cardiorespiratory failure at ages 4 and 12 weeks, respectively. Both pregnancies were complicated by polyhydramnios and reduced fetal movements. One infant had equinovarus feet with flexion contractures. GBE1 activity in cultured fibroblasts was less than 5% in both cases. Molecular analysis identified a homozygous null mutation in the GBE1 gene in each patient (<a href="/entry/607839#0017">607839.0017</a> and <a href="/entry/607839#0018">607839.0018</a>, respectively). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17662246" 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>Childhood Neuromuscular Form</em></strong></p><p>
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<a href="#15" class="mim-tip-reference" title="Guerra, A. S., van Diggelen, O. P., Carneiro, F., Tsou, R. M., Simoes, S., Santos, N. T. <strong>A juvenile variant of glycogenosis IV (Andersen disease).</strong> Europ. J. Pediat. 145: 179-181, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3464425/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3464425</a>] [<a href="https://doi.org/10.1007/BF00446059" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3464425">Guerra et al. (1986)</a> reported an 8-year-old child with Andersen syndrome. <a href="#26" class="mim-tip-reference" title="Servidei, S., Riepe, R., Langston, C., Tani, L. Y., Bricker, J. T., Crisp Lindgren, N., Travers, H., Armstrong, D., DiMauro, S. <strong>Severe cardiopathy in branching enzyme deficiency.</strong> J. Pediat. 111: 51-56, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3474393/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3474393</a>] [<a href="https://doi.org/10.1016/s0022-3476(87)80341-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3474393">Servidei et al. (1987)</a> reported a 7.5-year-old girl with exercise intolerance and exertional dyspnea. She developed congestive heart failure and died 1 year later. Endomyocardial biopsy showed abundant PAS-positive, diastase-resistant cytoplasmic deposits that were also seen in muscle, skin, and liver specimens. Glycogen branching enzyme was absent in all postmortem tissues. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3464425+3474393" 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 3 Turkish male sibs suffering from chronic progressive myopathy, <a href="#22" class="mim-tip-reference" title="Reusche, E., Aksu, F., Goebel, H. H., Shin, Y. S., Yokota, T., Reichmann, H. <strong>A mild juvenile variant of type IV glycogenosis.</strong> Brain Dev. 14: 36-43, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1375445/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1375445</a>] [<a href="https://doi.org/10.1016/s0387-7604(12)80277-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1375445">Reusche et al. (1992)</a> identified a mild juvenile form of type IV glycogenosis which was confirmed by the finding of profound deficiency of the brancher enzyme. They pointed out that when polyglucosan inclusions are observed in myofibers, it is mandatory to examine muscle tissue for brancher enzyme activity since this enzyme activity was normal in circulating erythrocytes and leukocytes in all 3 affected sibs and their parents; the disorder in this family was limited to muscle tissues. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1375445" 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="Schroder, J. M., May, R., Shin, Y. S., Sigmund, M., Nase-Huppmeier, S. <strong>Juvenile hereditary polyglucosan body disease with complete branching enzyme deficiency (type IV glycogenosis).</strong> Acta Neuropath. 85: 419-430, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7683169/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7683169</a>] [<a href="https://doi.org/10.1007/BF00334454" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7683169">Schroder et al. (1993)</a> reported a case of juvenile type IV glycogenosis with total branching enzyme deficiency in skeletal muscle and liver tissue in a male who presented with severe myopathy, dilated cardiomyopathy, heart failure, dysmorphic features, and subclinical neuropathy. He died from sudden cardiac death at age 19. His 15-year-old brother had similar clinical and histologic findings. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7683169" 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="#9" class="mim-tip-reference" title="Bruno, C., van Diggelen, O. P., Cassandrini, D., Gimpelev, M., Giuffre, B., Donati, M. A., Introvini, P., Alegria, A., Assereto, S., Morandi, L., Mora, M., Tonoli, E., Mascelli, S., Traverso, M., Pasquini, E., Bado, M., Vilarinho, L., van Noort, G., Mosca, F., DiMauro, S., Zara, F., Minetti, C. <strong>Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV).</strong> Neurology 63: 1053-1058, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15452297/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15452297</a>] [<a href="https://doi.org/10.1212/01.wnl.0000138429.11433.0d" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15452297">Bruno et al. (2004)</a> reported a 4-year-old boy with childhood neuromuscular GSD IV confirmed by mutation in the GBE1 gene (<a href="/entry/607839#0006">607839.0006</a>; <a href="/entry/607839#0013">607839.0013</a>). He developed generalized hypotonia at age 11 months; at age 3 years, he had myopathic face, muscular hypotrophy and hypotonia, and waddling gait with hyperlordosis. Serum creatine kinase was normal, and there were no signs of liver involvement. Residual GBE1 activity in fibroblasts was 15 to 25%. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15452297" 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>Adult Neuromuscular Form with Isolated Myopathy</em></strong></p><p>
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<a href="#12" class="mim-tip-reference" title="Ferguson, I. T., Mahon, M., Cumming, W. J. K. <strong>An adult case of Andersen's disease--type IV glycogenosis: a clinical, histochemical, ultrastructural and biochemical study.</strong> J. Neurol. Sci. 60: 337-351, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6579239/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6579239</a>] [<a href="https://doi.org/10.1016/0022-510x(83)90144-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6579239">Ferguson et al. (1983)</a> presented the case of a 59-year-old man with a 30-year history of a limb-girdle muscular dystrophy due to a presumably allelic form of this disease. Symptoms began at age 29 years with progressive difficulty walking up stairs. He showed hyperlordotic posture, waddling gait, and proximal limb weakness which was greater in the arms than the legs. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6579239" 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="#27" class="mim-tip-reference" title="Shin, Y. S., Steiguber, H., Klemm, P., Endres, W., Schwab, O., Wolff, G. <strong>Branching enzyme in erythrocytes: detection of type IV glycogenosis homozygotes and heterozygotes.</strong> J. Inherit. Metab. Dis. 11 (suppl. 2): 252-254, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2972882/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2972882</a>] [<a href="https://doi.org/10.1007/BF01804250" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2972882">Shin et al. (1988)</a> demonstrated that the diagnosis of both homozygotes and heterozygotes can be made on the basis of the study of branching enzyme activity in erythrocytes. <a href="#7" class="mim-tip-reference" title="Brown, B. I., Brown, D. H. <strong>Branching enzyme activity of cultured amniocytes and chorionic villi: prenatal testing for type IV glycogen storage disease.</strong> Am. J. Hum. Genet. 44: 378-381, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2521770/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2521770</a>]" pmid="2521770">Brown and Brown (1989)</a> described successful prenatal testing for GSD IV based on levels of branching enzyme activity in cultured amniotic fluid cells and cultured chorionic villi. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2972882+2521770" 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 review and consensus paper focused on GSD IV and APBD, <a href="#18" class="mim-tip-reference" title="Koch, R. L., Soler-Alfonso, C., Kiely, B. T., Asai, A., Smith, A. L., Bali, D. S., Kang, P. B., Landstrom, A. P., Akman, H. O., Burrow, T. A., Orthmann-Murphy, J. L., Goldman, D. S., Pendyal, S., El-Gharbawy, A. H., Austin, S. L., Case, L. E., Schiffmann, R., Hirano, M., Kishnani, P. S. <strong>Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: a clinical practice resource.</strong> Molec. Genet. Metab. 138: 107525, 2023.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/36796138/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">36796138</a>] [<a href="https://doi.org/10.1016/j.ymgme.2023.107525" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="36796138">Koch et al. (2023)</a> discussed diagnostic approaches. GBE1 sequencing detected about 74% of the pathogenic and likely pathogenic variants, and, when combined with deletion duplication analysis, this detection rate increased to about 85%. If genetic testing was inconclusive, enzyme analysis was recommended in skin fibroblasts, white blood cells, heart, muscle, liver, or peripheral nerves. However, liver was not the preferred tissue because of interference with other isoenzymes. Other findings that could aid in diagnosis included histopathology of affected tissues with positive staining for PAS that is resistant to diastase digestion and elevated glycogen content in affected tissues. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=36796138" 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="#25" class="mim-tip-reference" title="Selby, R., Starzl, T. E., Yunis, E., Brown, B. I., Kendall, R. S., Tzakis, A. <strong>Liver transplantation for type IV glycogen storage disease.</strong> New Eng. J. Med. 324: 39-42, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1984162/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1984162</a>] [<a href="https://doi.org/10.1056/NEJM199101033240107" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1984162">Selby et al. (1991)</a> reported liver transplantation in 7 boys, including 2 sets of brothers. Two of the 7 died 7 and 36 days after liver transplantation, from bowel perforation and thrombosis of the hepatic artery, respectively. The 5 other recipients were healthy and had normal liver function 16 to 73 months after transplantation. The longest survival was 73 months in a patient who received a transplant at the age of 31 months. As pointed out by <a href="#17" class="mim-tip-reference" title="Howell, R. R. <strong>Continuing lessons from glycogen storage diseases. (Editorial)</strong> New Eng. J. Med. 324: 55-56, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1984166/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1984166</a>] [<a href="https://doi.org/10.1056/NEJM199101033240111" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1984166">Howell (1991)</a>, some would have predicted that although the liver failure would be reversed by successful transplantation, progressive and probably fatal myopathy, cardiomyopathy, or encephalopathy would develop. However, the experience of <a href="#25" class="mim-tip-reference" title="Selby, R., Starzl, T. E., Yunis, E., Brown, B. I., Kendall, R. S., Tzakis, A. <strong>Liver transplantation for type IV glycogen storage disease.</strong> New Eng. J. Med. 324: 39-42, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1984162/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1984162</a>] [<a href="https://doi.org/10.1056/NEJM199101033240107" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1984162">Selby et al. (1991)</a> showed that that was not the case; indeed, the patients remained healthy and the accumulations of glycogen in the heart and muscle at the time of liver transplantation seemed to diminish. <a href="#29" class="mim-tip-reference" title="Starzl, T. E., Demetris, A. J., Trucco, M., Ricordi, C., Ildstad, S., Terasaki, P. I., Murase, N., Kendall, R. S., Kocova, M., Rudert, W. A., Zeevi, A., Van Thiel, D. <strong>Chimerism after liver transplantation for type IV glycogen storage disease and type 1 Gaucher's disease.</strong> New Eng. J. Med. 328: 745-749, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8437594/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8437594</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=8437594[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1056/NEJM199303183281101" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8437594">Starzl et al. (1993)</a> likewise reported 2 patients with GSD IV in whom cardiac deposits of amylopectin were dramatically reduced after liver transplantation. They also reported a striking reduction in lymph node deposits of glucocerebrosidase in patients with Gaucher disease (<a href="/entry/230800">230800</a>) after transplantation. They concluded that systemic microchimerism occurs after liver allotransplantation and can ameliorate pancellular enzyme deficiencies. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8437594+1984162+1984166" 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="Koch, R. L., Soler-Alfonso, C., Kiely, B. T., Asai, A., Smith, A. L., Bali, D. S., Kang, P. B., Landstrom, A. P., Akman, H. O., Burrow, T. A., Orthmann-Murphy, J. L., Goldman, D. S., Pendyal, S., El-Gharbawy, A. H., Austin, S. L., Case, L. E., Schiffmann, R., Hirano, M., Kishnani, P. S. <strong>Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: a clinical practice resource.</strong> Molec. Genet. Metab. 138: 107525, 2023.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/36796138/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">36796138</a>] [<a href="https://doi.org/10.1016/j.ymgme.2023.107525" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="36796138">Koch et al. (2023)</a> discussed a multidisciplinary approach to the varied manifestations of GSD IV, which was dependent on age of disease presentation and individual organ involvement. This included evaluation and monitoring for liver dysfunction and presence of/progression of portal hypertension, generally in the setting of pediatric-onset GSD IV. All patients with GSD IV were recommended to have a comprehensive cardiac evaluation at the time of diagnosis, followed by long-term care with a cardiologist. Other specialty care recommendations included care management with neurology, nutrition, and rehabilitation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=36796138" 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="#5" class="mim-tip-reference" title="Bao, Y., Kishnani, P., Wu, J.-Y., Chen, Y.-T. <strong>Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene.</strong> J. Clin. Invest. 97: 941-948, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8613547/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8613547</a>] [<a href="https://doi.org/10.1172/JCI118517" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8613547">Bao et al. (1996)</a> found 2 missense mutations (<a href="/entry/607839#0004">607839.0004</a>, <a href="/entry/607839#0005">607839.0005</a>) and 1 nonsense mutation (<a href="/entry/607839#0006">607839.0006</a>) in the GBE gene in 2 patients with the classic hepatic form of GSD IV. Transient expression experiments showed that these mutations inactivated glycogen branching enzyme activity. In a patient with the nonprogressive hepatic form of GSD IV, they identified compound heterozygosity for 2 GBE1 mutations; one of these resulted in complete loss of GBE activity (<a href="/entry/607839#0003">607839.0003</a>), whereas the other resulted in loss of approximately 50% of GBE activity (<a href="/entry/607839#0002">607839.0002</a>). In a patient with the fatal congenital neuromuscular form, they identified a 210-bp deletion in the GBE cDNA (<a href="/entry/607839#0001">607839.0001</a>). The findings indicated that all 3 forms of GSD IV are caused by mutations in the same gene and that significant retention of GBE activity may be the reason for mild disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8613547" 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 the patient with fatal perinatal GSD IV reported by <a href="#1" class="mim-tip-reference" title="Alegria, A., Martins, E., Dias, M., Cunha, A., Cardoso, M. L., Maire, I. <strong>Glycogen storage disease type IV presenting as hydrops fetalis.</strong> J. Inherit. Metab. Dis. 22: 330-332, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10384399/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10384399</a>] [<a href="https://doi.org/10.1023/a:1005568507267" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10384399">Alegria et al. (1999)</a>, <a href="#9" class="mim-tip-reference" title="Bruno, C., van Diggelen, O. P., Cassandrini, D., Gimpelev, M., Giuffre, B., Donati, M. A., Introvini, P., Alegria, A., Assereto, S., Morandi, L., Mora, M., Tonoli, E., Mascelli, S., Traverso, M., Pasquini, E., Bado, M., Vilarinho, L., van Noort, G., Mosca, F., DiMauro, S., Zara, F., Minetti, C. <strong>Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV).</strong> Neurology 63: 1053-1058, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15452297/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15452297</a>] [<a href="https://doi.org/10.1212/01.wnl.0000138429.11433.0d" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15452297">Bruno et al. (2004)</a> identified a homozygous 274-bp insertion in the GBE1 gene (<a href="/entry/607839#0009">607839.0009</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15452297+10384399" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#10" class="mim-tip-reference" title="Burrow, T. A., Hopkin, R. J., Bove, K. E., Miles, L., Wong, B. L., Choudhary, A., Bali, D., Li, S. C., Chen, Y.-T. <strong>Non-lethal congenital hypotonia due to glycogen storage disease type IV.</strong> Am. J. Med. Genet. 140A: 878-882, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16528737/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16528737</a>] [<a href="https://doi.org/10.1002/ajmg.a.31166" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16528737">Burrow et al. (2006)</a> reported a 30-month-old girl with GSD IV who had stable congenital hypotonia with gross motor delay and severe fibrofatty replacement of the musculature, but no hepatic or cardiac involvement. Molecular analysis identified compound heterozygosity for 2 missense mutations in the GBE1 gene (<a href="/entry/607839#0015">607839.0015</a>-<a href="/entry/607839#0016">607839.0016</a>). <a href="#10" class="mim-tip-reference" title="Burrow, T. A., Hopkin, R. J., Bove, K. E., Miles, L., Wong, B. L., Choudhary, A., Bali, D., Li, S. C., Chen, Y.-T. <strong>Non-lethal congenital hypotonia due to glycogen storage disease type IV.</strong> Am. J. Med. Genet. 140A: 878-882, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16528737/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16528737</a>] [<a href="https://doi.org/10.1002/ajmg.a.31166" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16528737">Burrow et al. (2006)</a> suggested that the unusually mild phenotype in this patient might be due to residual enzyme activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16528737" 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="#Bannayan1976" class="mim-tip-reference" title="Bannayan, G. A., Dean, W. J., Howell, R. R. <strong>Type IV glycogen-storage disease: light-microscopic and enzymatic study.</strong> Am. J. Clin. Path. 66: 702-709, 1976.">Bannayan et al. (1976)</a>; <a href="#Greene1987" class="mim-tip-reference" title="Greene, G. M., Weldon, D. C., Ferrans, V. J., Cheatham, J. P., McComb, R. D., Brown, B. I., Gumbiner, C. H., Vanderhoff, J. A., Itkin, P. G., McManus, B. M. <strong>Juvenile polysaccharidosis with cardioskeletal myopathy.</strong> Arch. Path. Lab. Med. 111: 977-982, 1987.">Greene et al. (1987)</a>; <a href="#Howell1971" class="mim-tip-reference" title="Howell, R. R., Kaback, M. M., Brown, B. I. <strong>Type IV glycogen storage disease: branching enzyme deficiency in skin fibroblasts and possible heterozygote detection.</strong> J. Pediat. 78: 638-642, 1971.">Howell et al. (1971)</a>; <a href="#Levin1968" class="mim-tip-reference" title="Levin, B., Burgess, E. A., Mortimer, P. E. <strong>Glycogen storage disease type IV, amylopectinosis.</strong> Arch. Dis. Child. 43: 548-555, 1968.">Levin et al. (1968)</a>; <a href="#Schochet1970" class="mim-tip-reference" title="Schochet, S. S., Jr., McCormick, W. F., Zellweger, H. <strong>Type IV glycogenosis (amylopectinosis): light and electron microscopic observations.</strong> Arch. Path. 90: 354-363, 1970.">Schochet et al. (1970)</a>; <a href="#Sidbury1962" class="mim-tip-reference" title="Sidbury, J. B., Jr., Mason, J., Burns, W. B., Jr., Ruebner, B. H. <strong>Type IV glycogenosis: report of a case proven by characterization of glycogen and studied at necropsy.</strong> Bull. Johns Hopkins Hosp. 111: 157-181, 1962.">Sidbury et al. (1962)</a>
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Alegria, A., Martins, E., Dias, M., Cunha, A., Cardoso, M. L., Maire, I.
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<strong>Glycogen storage disease type IV presenting as hydrops fetalis.</strong>
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J. Inherit. Metab. Dis. 22: 330-332, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10384399/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10384399</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10384399" 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/10.1023/a:1005568507267" target="_blank">Full Text</a>]
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<strong>Familial cirrhosis of the liver with storage of abnormal glycogen.</strong>
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Lab. Invest. 5: 11-20, 1956.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13279125/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13279125</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13279125" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Assereto, S., van Diggelen, O. P., Diogo, L., Morava, E., Cassandrini, D., Carreira, I., de Boode, W.-P., Dilling, J., Garcia, P., Henriques, M., Rebelo, O., ter Laak, H., Minetti, C., Bruno, C.
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<strong>Null mutations and lethal congenital forms of glycogen storage disease type IV.</strong>
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Biochem. Biophys. Res. Commun. 361: 445-450, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17662246/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17662246</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17662246" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Bannayan, G. A., Dean, W. J., Howell, R. R.
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<strong>Type IV glycogen-storage disease: light-microscopic and enzymatic study.</strong>
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Am. J. Clin. Path. 66: 702-709, 1976.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1067751/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1067751</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1067751" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Bao, Y., Kishnani, P., Wu, J.-Y., Chen, Y.-T.
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<strong>Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene.</strong>
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J. Clin. Invest. 97: 941-948, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8613547/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8613547</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8613547" 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/10.1172/JCI118517" target="_blank">Full Text</a>]
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<strong>Lack of an alpha-1,4-glucan: alpha-1,4-glucan 6-glycosyl transferase in a case of type IV glycogenosis.</strong>
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[<a href="https://doi.org/10.1212/01.wnl.0000138429.11433.0d" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.31166" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/(sici)1096-8628(19990910)86:2<187::aid-ajmg20>3.0.co;2-7" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0022-510x(83)90144-2" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/hep.1840080219" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00446059" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0022-3476(71)80466-3" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1056/NEJM199101033240111" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/j.ymgme.2023.107525" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/adc.43.231.548" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF01799348" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5272555/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5272555</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5272555" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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<a id="24" class="mim-anchor"></a>
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<a id="Schroder1993" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Schroder, J. M., May, R., Shin, Y. S., Sigmund, M., Nase-Huppmeier, S.
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<strong>Juvenile hereditary polyglucosan body disease with complete branching enzyme deficiency (type IV glycogenosis).</strong>
|
|
Acta Neuropath. 85: 419-430, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7683169/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7683169</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7683169" 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/10.1007/BF00334454" target="_blank">Full Text</a>]
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<a id="25" class="mim-anchor"></a>
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<a id="Selby1991" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Selby, R., Starzl, T. E., Yunis, E., Brown, B. I., Kendall, R. S., Tzakis, A.
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<strong>Liver transplantation for type IV glycogen storage disease.</strong>
|
|
New Eng. J. Med. 324: 39-42, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1984162/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1984162</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1984162" 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/10.1056/NEJM199101033240107" target="_blank">Full Text</a>]
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<a id="26" class="mim-anchor"></a>
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<a id="Servidei1987" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Servidei, S., Riepe, R., Langston, C., Tani, L. Y., Bricker, J. T., Crisp Lindgren, N., Travers, H., Armstrong, D., DiMauro, S.
|
|
<strong>Severe cardiopathy in branching enzyme deficiency.</strong>
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J. Pediat. 111: 51-56, 1987.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3474393/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3474393</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3474393" 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/10.1016/s0022-3476(87)80341-4" target="_blank">Full Text</a>]
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<a id="27" class="mim-anchor"></a>
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<a id="Shin1988" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Shin, Y. S., Steiguber, H., Klemm, P., Endres, W., Schwab, O., Wolff, G.
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<strong>Branching enzyme in erythrocytes: detection of type IV glycogenosis homozygotes and heterozygotes.</strong>
|
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J. Inherit. Metab. Dis. 11 (suppl. 2): 252-254, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2972882/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2972882</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2972882" 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/10.1007/BF01804250" target="_blank">Full Text</a>]
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<a id="Sidbury1962" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Sidbury, J. B., Jr., Mason, J., Burns, W. B., Jr., Ruebner, B. H.
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<strong>Type IV glycogenosis: report of a case proven by characterization of glycogen and studied at necropsy.</strong>
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Bull. Johns Hopkins Hosp. 111: 157-181, 1962.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13988891/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13988891</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13988891" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="29" class="mim-anchor"></a>
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<a id="Starzl1993" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Starzl, T. E., Demetris, A. J., Trucco, M., Ricordi, C., Ildstad, S., Terasaki, P. I., Murase, N., Kendall, R. S., Kocova, M., Rudert, W. A., Zeevi, A., Van Thiel, D.
|
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<strong>Chimerism after liver transplantation for type IV glycogen storage disease and type 1 Gaucher's disease.</strong>
|
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New Eng. J. Med. 328: 745-749, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8437594/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8437594</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=8437594[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8437594" 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/10.1056/NEJM199303183281101" target="_blank">Full Text</a>]
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<li>
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<a id="30" class="mim-anchor"></a>
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<a id="Tang1994" class="mim-anchor"></a>
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<p class="mim-text-font">
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Tang, T. T., Segura, A. D., Chen, Y.-T., Ricci, L. M., Franciosi, R. A., Splaingard, M. L., Lubinsky, M. S.
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<strong>Neonatal hypotonia and cardiomyopathy secondary to type IV glycogenosis.</strong>
|
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Acta Neuropath. 87: 531-536, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8059607/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8059607</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8059607" 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/10.1007/BF00294181" target="_blank">Full Text</a>]
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<a id="31" class="mim-anchor"></a>
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<a id="Tay2004" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Tay, S. K. H., Akman, H. O., Chung, W. K., Pike, M. G., Muntoni, F., Hays, A. P., Shanske, S., Valberg, S. J., Mickelson, J. R., Tanji, K., DiMauro, S.
|
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<strong>Fatal infantile neuromuscular presentation of glycogen storage disease type IV.</strong>
|
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Neuromusc. Disord. 14: 253-260, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15019703/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15019703</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15019703" 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/10.1016/j.nmd.2003.12.006" target="_blank">Full Text</a>]
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<li>
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<a id="32" class="mim-anchor"></a>
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<a id="Zellweger1972" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Zellweger, H., Mueller, S., Ionasescu, V., Schochet, S. S., McCormick, W. F.
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<strong>Glycogenosis. IV. A new cause of infantile hypotonia.</strong>
|
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J. Pediat. 80: 842-844, 1972.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4502299/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4502299</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4502299" 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/10.1016/s0022-3476(72)80144-6" target="_blank">Full Text</a>]
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</ol>
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<br />
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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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 : 04/25/2023
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</span>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 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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Cassandra L. Kniffin - updated : 2/7/2008<br>Cassandra L. Kniffin - updated : 9/14/2007<br>Marla J. F. O'Neill - updated : 8/11/2006<br>Cassandra L. Kniffin - updated : 2/17/2005<br>Cassandra L. Kniffin - reorganized : 6/10/2003<br>Victor A. McKusick - updated : 1/10/2000<br>Sonja A. Rasmussen - updated : 10/5/1999<br>Victor A. McKusick - updated : 7/15/1999
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<a id="creationDate" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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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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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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carol : 04/25/2023
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<div class="row collapse" id="mimCollapseEditHistory">
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<span class="mim-text-font">
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carol : 05/12/2022<br>carol : 05/11/2022<br>carol : 05/10/2022<br>carol : 02/06/2015<br>carol : 5/8/2014<br>mcolton : 4/28/2014<br>carol : 9/6/2013<br>wwang : 2/21/2008<br>ckniffin : 2/7/2008<br>wwang : 9/24/2007<br>ckniffin : 9/14/2007<br>carol : 4/17/2007<br>wwang : 8/17/2006<br>terry : 8/11/2006<br>terry : 3/22/2006<br>tkritzer : 4/14/2005<br>carol : 3/31/2005<br>carol : 3/31/2005<br>ckniffin : 2/17/2005<br>terry : 6/25/2004<br>carol : 6/10/2003<br>ckniffin : 6/10/2003<br>ckniffin : 5/30/2003<br>mcapotos : 1/20/2000<br>mcapotos : 1/18/2000<br>terry : 1/10/2000<br>carol : 10/5/1999<br>jlewis : 8/3/1999<br>jlewis : 7/30/1999<br>terry : 7/15/1999<br>mark : 3/26/1996<br>terry : 3/19/1996<br>terry : 5/13/1994<br>mimadm : 2/19/1994<br>carol : 10/4/1993<br>carol : 9/23/1993<br>carol : 5/14/1993<br>carol : 5/7/1993
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<h3>
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<span class="mim-font">
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<strong>#</strong> 232500
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<div>
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<h3>
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<span class="mim-font">
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GLYCOGEN STORAGE DISEASE IV; GSD4
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</h3>
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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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</p>
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<div>
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<h4>
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<span class="mim-font">
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GSD IV<br />
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GLYCOGEN BRANCHING ENZYME DEFICIENCY<br />
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GBE1 DEFICIENCY<br />
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ANDERSEN DISEASE<br />
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BRANCHER DEFICIENCY<br />
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GLYCOGENOSIS IV<br />
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AMYLOPECTINOSIS<br />
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CIRRHOSIS, FAMILIAL, WITH DEPOSITION OF ABNORMAL GLYCOGEN
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</span>
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</h4>
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</div>
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<br />
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<span class="mim-font">
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Other entities represented in this entry:
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</span>
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</p>
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<div>
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<span class="h3 mim-font">
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GSD IV, CLASSIC HEPATIC, INCLUDED
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<div>
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<span class="h4 mim-font">
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GSD IV, NONPROGRESSIVE HEPATIC, INCLUDED<br />
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GSD IV, NEUROMUSCULAR FORM, FATAL PERINATAL, INCLUDED<br />
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GSD IV, NEUROMUSCULAR FORM, CONGENITAL, INCLUDED<br />
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GSD IV, NEUROMUSCULAR FORM, CHILDHOOD, INCLUDED<br />
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GSD IV, NEUROMUSCULAR FORM, ADULT, WITH ISOLATED MYOPATHY, INCLUDED
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</span>
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</div>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 11179002, 124267007;
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<strong>ICD10CM:</strong> E74.09;
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<strong>ORPHA:</strong> 308621, 308638, 308655, 308670, 308684, 308698, 308712, 367;
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<strong>DO:</strong> 2750;
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</span>
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</p>
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<div>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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3p12.2
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</span>
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</td>
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<td>
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<span class="mim-font">
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Glycogen storage disease IV
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</span>
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</td>
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<td>
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<span class="mim-font">
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232500
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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<td>
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<span class="mim-font">
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GBE1
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</span>
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</td>
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<td>
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<span class="mim-font">
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607839
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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<div>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</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>A number sign (#) is used with this entry because glycogen storage disease IV (GSD4) is caused by homozygous or compound heterozygous mutation in the GBE1 gene (607839), which encodes the glycogen branching enzyme, on chromosome 3p12.</p><p>Mutation in the GBE1 gene also causes an allelic disorder, adult polyglucosan body neuropathy (APBN; 263570).</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>Description</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>Glycogen storage disease IV (GSD4) is a clinically heterogeneous disorder. The typical 'classic' hepatic presentation is liver disease of childhood, progressing to lethal cirrhosis. The neuromuscular presentation of GSD IV is distinguished by age at onset into 4 groups: perinatal, presenting as fetal akinesia deformation sequence (FADS) and perinatal death; congenital, with hypotonia, neuronal involvement, and death in early infancy; childhood, with myopathy or cardiomyopathy; and adult, with isolated myopathy or adult polyglucosan body disease (Bruno et al., 2004). The enzyme deficiency results in tissue accumulation of abnormal glycogen with fewer branching points and longer outer branches, resembling an amylopectin-like structure, also known as polyglucosan (Tay et al., 2004). </p><p>Bruno et al. (2007) provided a review of the neuromuscular forms of glycogen branching enzyme deficiency. </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>Clinical 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><strong><em>Classic Hepatic Form</em></strong></p><p>
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Andersen (1956) originally reported GSD IV as 'familial cirrhosis of the liver with storage of abnormal glycogen.' Brown and Brown (1966) determined that the defect in GSD IV was a deficiency of the alpha-1,4-glucan branching enzyme. </p><p>Bao et al. (1996) noted that the most common form of GSD IV presents in the first 18 months of life with failure to thrive, hepatosplenomegaly, and liver cirrhosis. There is progression to portal hypertension, ascites, and liver failure, leading to death by age 5 years. A simple iodine test shows formation of a blue colored complex of glycogen and iodine. The liver shows the main involvement, resulting from a defect of amylo(1,4 to 1,6) transglucosidase (brancher enzyme). </p><p><strong><em>Nonprogressive Hepatic Form</em></strong></p><p>
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Less frequently, patients may have liver dysfunction without liver failure, referred to as 'nonprogressive hepatic GSD IV.' Greene et al. (1988) reported a 5-year-old boy who was first noted to have elevated serum transaminase levels and hepatomegaly at age 2 years following an acute febrile illness. Successive liver biopsies showed hepatocellular periodic-acid Schiff-positive diastase-resistant inclusions and hepatic fibrosis that was nonprogressive over 3 years. Enzymatic assays showed deficient branching enzyme in liver, skeletal muscle, and skin fibroblasts. The child showed normal growth and development. </p><p>McConkie-Rosell et al. (1996) found that 6 patients with nonprogressive hepatic GSD IV did not develop progressive liver cirrhosis, cardiac, or neurologic involvement, despite residual branching enzyme activity in skin fibroblasts that was indistinguishable from patients with more severe forms of GSD IV. The authors concluded that residual enzyme activity could not be used to predict the clinical course in GSD IV, that not all patients require liver transplant, and that caution should be used in genetic counseling. </p><p><strong><em>Fatal Perinatal Neuromuscular Form</em></strong></p><p>
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Alegria et al. (1999) reported hydrops fetalis as a presenting manifestation of glycogen storage disease type IV. The infant, delivered by cesarean section at 34 weeks, had generalized edema, severe hypotonia, and arthrogryposis of the lower limbs at birth. There were no signs of cirrhosis or liver failure. She died on the fourth day of life. </p><p>Cox et al. (1999) reported 3 sib fetuses who were shown to have type IV glycogen storage disease by pathologic and biochemical studies, with onset of hydrops, limb contractures, and akinesia in the early second trimester. </p><p><strong><em>Congenital Neuromuscular Form</em></strong></p><p>
|
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Zellweger et al. (1972) reported infantile onset of GSD IV with hypotonia. </p><p>McMaster et al. (1979) reported a 30-month old girl with GSD IV in whom extensive involvement of the nervous system was found at autopsy. In a review of the literature, the authors noted that approximately 50% of GSD IV patients have neuromuscular signs and symptoms. </p><p>Tang et al. (1994) reported a neonate with GSD IV who presented with severe hypotonia and dilated cardiomyopathy. The classic clinical manifestation of liver cirrhosis was not present, although amylopectin-like inclusions were found in hepatocytes. He died of cardiorespiratory failure at 4 weeks of age. In the child reported by Tang et al. (1994), Bao et al. (1996) identified a mutation in the GBE1 gene (607839.0001). </p><p>Tay et al. (2004) reported 2 unrelated patients with the congenital variant of GSD IV confirmed by mutation in the GBE1 gene (607839.0008). Both pregnancies were complicated by polyhydramnios, and both neonates showed hypotonia and poor respiratory effort at birth. Only 1 had contractures. Both died within the first weeks of life. Branching enzyme activities were 0.9% and 0.8% of normal controls. Postmortem examination of 1 infant showed pale, atrophic skeletal muscles, and PAS-positive, diastase-resistant globules in liver, heart, skeletal muscle, and neurons of the brain and spinal cord. </p><p>Bruno et al. (2004) reported 2 sibs with congenital GSD IV confirmed by mutation in the GBE1 gene (607839.0011; 607839.0012). In both cases, pregnancy was complicated by polyhydramnios, reduced fetal movements, and fetal hydrops. At birth, both infants had severe hypotonia, hyporeflexia, and no spontaneous respiration. Death occurred at ages 4 months and 4 weeks, respectively, due to cardiorespiratory failure. Autopsy showed hypertrophy of the left cardiac ventricle. Residual GBE1 activity in fibroblasts was less than 5%. </p><p>Assereto et al. (2007) reported 2 unrelated newborns who showed severe hypotonia at birth and died of cardiorespiratory failure at ages 4 and 12 weeks, respectively. Both pregnancies were complicated by polyhydramnios and reduced fetal movements. One infant had equinovarus feet with flexion contractures. GBE1 activity in cultured fibroblasts was less than 5% in both cases. Molecular analysis identified a homozygous null mutation in the GBE1 gene in each patient (607839.0017 and 607839.0018, respectively). </p><p><strong><em>Childhood Neuromuscular Form</em></strong></p><p>
|
|
Guerra et al. (1986) reported an 8-year-old child with Andersen syndrome. Servidei et al. (1987) reported a 7.5-year-old girl with exercise intolerance and exertional dyspnea. She developed congestive heart failure and died 1 year later. Endomyocardial biopsy showed abundant PAS-positive, diastase-resistant cytoplasmic deposits that were also seen in muscle, skin, and liver specimens. Glycogen branching enzyme was absent in all postmortem tissues. </p><p>In 3 Turkish male sibs suffering from chronic progressive myopathy, Reusche et al. (1992) identified a mild juvenile form of type IV glycogenosis which was confirmed by the finding of profound deficiency of the brancher enzyme. They pointed out that when polyglucosan inclusions are observed in myofibers, it is mandatory to examine muscle tissue for brancher enzyme activity since this enzyme activity was normal in circulating erythrocytes and leukocytes in all 3 affected sibs and their parents; the disorder in this family was limited to muscle tissues. </p><p>Schroder et al. (1993) reported a case of juvenile type IV glycogenosis with total branching enzyme deficiency in skeletal muscle and liver tissue in a male who presented with severe myopathy, dilated cardiomyopathy, heart failure, dysmorphic features, and subclinical neuropathy. He died from sudden cardiac death at age 19. His 15-year-old brother had similar clinical and histologic findings. </p><p>Bruno et al. (2004) reported a 4-year-old boy with childhood neuromuscular GSD IV confirmed by mutation in the GBE1 gene (607839.0006; 607839.0013). He developed generalized hypotonia at age 11 months; at age 3 years, he had myopathic face, muscular hypotrophy and hypotonia, and waddling gait with hyperlordosis. Serum creatine kinase was normal, and there were no signs of liver involvement. Residual GBE1 activity in fibroblasts was 15 to 25%. </p><p><strong><em>Adult Neuromuscular Form with Isolated Myopathy</em></strong></p><p>
|
|
Ferguson et al. (1983) presented the case of a 59-year-old man with a 30-year history of a limb-girdle muscular dystrophy due to a presumably allelic form of this disease. Symptoms began at age 29 years with progressive difficulty walking up stairs. He showed hyperlordotic posture, waddling gait, and proximal limb weakness which was greater in the arms than the legs. </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>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>Shin et al. (1988) demonstrated that the diagnosis of both homozygotes and heterozygotes can be made on the basis of the study of branching enzyme activity in erythrocytes. Brown and Brown (1989) described successful prenatal testing for GSD IV based on levels of branching enzyme activity in cultured amniotic fluid cells and cultured chorionic villi. </p><p>In a review and consensus paper focused on GSD IV and APBD, Koch et al. (2023) discussed diagnostic approaches. GBE1 sequencing detected about 74% of the pathogenic and likely pathogenic variants, and, when combined with deletion duplication analysis, this detection rate increased to about 85%. If genetic testing was inconclusive, enzyme analysis was recommended in skin fibroblasts, white blood cells, heart, muscle, liver, or peripheral nerves. However, liver was not the preferred tissue because of interference with other isoenzymes. Other findings that could aid in diagnosis included histopathology of affected tissues with positive staining for PAS that is resistant to diastase digestion and elevated glycogen content in affected tissues. </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>Clinical Management</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>Selby et al. (1991) reported liver transplantation in 7 boys, including 2 sets of brothers. Two of the 7 died 7 and 36 days after liver transplantation, from bowel perforation and thrombosis of the hepatic artery, respectively. The 5 other recipients were healthy and had normal liver function 16 to 73 months after transplantation. The longest survival was 73 months in a patient who received a transplant at the age of 31 months. As pointed out by Howell (1991), some would have predicted that although the liver failure would be reversed by successful transplantation, progressive and probably fatal myopathy, cardiomyopathy, or encephalopathy would develop. However, the experience of Selby et al. (1991) showed that that was not the case; indeed, the patients remained healthy and the accumulations of glycogen in the heart and muscle at the time of liver transplantation seemed to diminish. Starzl et al. (1993) likewise reported 2 patients with GSD IV in whom cardiac deposits of amylopectin were dramatically reduced after liver transplantation. They also reported a striking reduction in lymph node deposits of glucocerebrosidase in patients with Gaucher disease (230800) after transplantation. They concluded that systemic microchimerism occurs after liver allotransplantation and can ameliorate pancellular enzyme deficiencies. </p><p>Koch et al. (2023) discussed a multidisciplinary approach to the varied manifestations of GSD IV, which was dependent on age of disease presentation and individual organ involvement. This included evaluation and monitoring for liver dysfunction and presence of/progression of portal hypertension, generally in the setting of pediatric-onset GSD IV. All patients with GSD IV were recommended to have a comprehensive cardiac evaluation at the time of diagnosis, followed by long-term care with a cardiologist. Other specialty care recommendations included care management with neurology, nutrition, and rehabilitation. </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>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>Bao et al. (1996) found 2 missense mutations (607839.0004, 607839.0005) and 1 nonsense mutation (607839.0006) in the GBE gene in 2 patients with the classic hepatic form of GSD IV. Transient expression experiments showed that these mutations inactivated glycogen branching enzyme activity. In a patient with the nonprogressive hepatic form of GSD IV, they identified compound heterozygosity for 2 GBE1 mutations; one of these resulted in complete loss of GBE activity (607839.0003), whereas the other resulted in loss of approximately 50% of GBE activity (607839.0002). In a patient with the fatal congenital neuromuscular form, they identified a 210-bp deletion in the GBE cDNA (607839.0001). The findings indicated that all 3 forms of GSD IV are caused by mutations in the same gene and that significant retention of GBE activity may be the reason for mild disease. </p><p>In the patient with fatal perinatal GSD IV reported by Alegria et al. (1999), Bruno et al. (2004) identified a homozygous 274-bp insertion in the GBE1 gene (607839.0009). </p><p>Burrow et al. (2006) reported a 30-month-old girl with GSD IV who had stable congenital hypotonia with gross motor delay and severe fibrofatty replacement of the musculature, but no hepatic or cardiac involvement. Molecular analysis identified compound heterozygosity for 2 missense mutations in the GBE1 gene (607839.0015-607839.0016). Burrow et al. (2006) suggested that the unusually mild phenotype in this patient might be due to residual enzyme activity. </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>
|
|
<span class="mim-text-font">
|
|
Bannayan et al. (1976); Greene et al. (1987); Howell et al. (1971);
|
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Levin et al. (1968); Schochet et al. (1970); Sidbury et al. (1962)
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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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<li>
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<p class="mim-text-font">
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Alegria, A., Martins, E., Dias, M., Cunha, A., Cardoso, M. L., Maire, I.
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<strong>Glycogen storage disease type IV presenting as hydrops fetalis.</strong>
|
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J. Inherit. Metab. Dis. 22: 330-332, 1999.
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[PubMed: 10384399]
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[Full Text: https://doi.org/10.1023/a:1005568507267]
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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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Andersen, D. H.
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<strong>Familial cirrhosis of the liver with storage of abnormal glycogen.</strong>
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Lab. Invest. 5: 11-20, 1956.
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[PubMed: 13279125]
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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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Assereto, S., van Diggelen, O. P., Diogo, L., Morava, E., Cassandrini, D., Carreira, I., de Boode, W.-P., Dilling, J., Garcia, P., Henriques, M., Rebelo, O., ter Laak, H., Minetti, C., Bruno, C.
|
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<strong>Null mutations and lethal congenital forms of glycogen storage disease type IV.</strong>
|
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Biochem. Biophys. Res. Commun. 361: 445-450, 2007.
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[PubMed: 17662246]
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[Full Text: https://doi.org/10.1016/j.bbrc.2007.07.074]
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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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Bannayan, G. A., Dean, W. J., Howell, R. R.
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<strong>Type IV glycogen-storage disease: light-microscopic and enzymatic study.</strong>
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Am. J. Clin. Path. 66: 702-709, 1976.
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[PubMed: 1067751]
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[Full Text: https://doi.org/10.1093/ajcp/66.4.702]
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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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Bao, Y., Kishnani, P., Wu, J.-Y., Chen, Y.-T.
|
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<strong>Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene.</strong>
|
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J. Clin. Invest. 97: 941-948, 1996.
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[PubMed: 8613547]
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[Full Text: https://doi.org/10.1172/JCI118517]
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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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Brown, B. I., Brown, D. H.
|
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<strong>Lack of an alpha-1,4-glucan: alpha-1,4-glucan 6-glycosyl transferase in a case of type IV glycogenosis.</strong>
|
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Proc. Nat. Acad. Sci. 56: 725-729, 1966.
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[PubMed: 5229990]
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[Full Text: https://doi.org/10.1073/pnas.56.2.725]
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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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Brown, B. I., Brown, D. H.
|
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<strong>Branching enzyme activity of cultured amniocytes and chorionic villi: prenatal testing for type IV glycogen storage disease.</strong>
|
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Am. J. Hum. Genet. 44: 378-381, 1989.
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[PubMed: 2521770]
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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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Bruno, C., Cassandrini, D., Assereto, S., Akman, H. O., Minetti, C., Di Mauro, S.
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<strong>Neuromuscular forms of glycogen branching enzyme deficiency.</strong>
|
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Acta Myol. 26: 75-78, 2007.
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[PubMed: 17915577]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Bruno, C., van Diggelen, O. P., Cassandrini, D., Gimpelev, M., Giuffre, B., Donati, M. A., Introvini, P., Alegria, A., Assereto, S., Morandi, L., Mora, M., Tonoli, E., Mascelli, S., Traverso, M., Pasquini, E., Bado, M., Vilarinho, L., van Noort, G., Mosca, F., DiMauro, S., Zara, F., Minetti, C.
|
|
<strong>Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV).</strong>
|
|
Neurology 63: 1053-1058, 2004.
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[PubMed: 15452297]
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[Full Text: https://doi.org/10.1212/01.wnl.0000138429.11433.0d]
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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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Burrow, T. A., Hopkin, R. J., Bove, K. E., Miles, L., Wong, B. L., Choudhary, A., Bali, D., Li, S. C., Chen, Y.-T.
|
|
<strong>Non-lethal congenital hypotonia due to glycogen storage disease type IV.</strong>
|
|
Am. J. Med. Genet. 140A: 878-882, 2006.
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[PubMed: 16528737]
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[Full Text: https://doi.org/10.1002/ajmg.a.31166]
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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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Cox, P. M., Brueton, L. A., Murphy, K. W., Worthington, V. C., Bjelogrlic, P., Lazda, E. J., Sabire, N. J., Sewry, C. A.
|
|
<strong>Early-onset fetal hydrops and muscle degeneration in siblings due to a novel variant of type IV glycogenosis.</strong>
|
|
Am. J. Med. Genet. 86: 187-193, 1999.
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Tay, S. K. H., Akman, H. O., Chung, W. K., Pike, M. G., Muntoni, F., Hays, A. P., Shanske, S., Valberg, S. J., Mickelson, J. R., Tanji, K., DiMauro, S.
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Thank you in advance for your generous support, <br />
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Ada Hamosh, MD, MPH <br />
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Scientific Director, OMIM <br />
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