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Entry
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- #300559 - GLYCOGEN STORAGE DISEASE IXd; GSD9D
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- OMIM
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<p>
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<span class="h4">#300559</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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<li role="presentation">
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<a href="/clinicalSynopsis/300559"><strong>Clinical Synopsis</strong></a>
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<li role="presentation">
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<a href="/phenotypicSeries/PS232200"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#molecularGenetics">Molecular Genetics</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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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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<div><a href="https://clinicaltrials.gov/search?cond=GLYCOGEN STORAGE DISEASE IXd" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=677&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK55061/" 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/8485" 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://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=300559[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=715" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div style="display: table-cell;">Animal Models</div>
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</a>
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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:0111040" 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/300559" 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://wormbase.org/resources/disease/DOID:0111040" 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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<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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<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> 819953000<br />
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<strong>ORPHA:</strong> 715<br />
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<strong>DO:</strong> 0111040<br />
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">ICD+</a>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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300559
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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 IXd; GSD9D
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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GSD IXd<br />
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MUSCLE PHOSPHORYLASE KINASE DEFICIENCY<br />
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MUSCLE GLYCOGENOSIS, X-LINKED
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</span>
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</h4>
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</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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<a id="phenotypeMap" class="mim-anchor"></a>
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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 table-hover 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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</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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<a href="/geneMap/X/422?start=-3&limit=10&highlight=422">
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Xq13.1
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</a>
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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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Muscle glycogenosis
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<td>
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<span class="mim-font">
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<a href="/entry/300559"> 300559 </a>
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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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<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</td>
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<td>
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<span class="mim-font">
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PHKA1
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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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<a href="/entry/311870"> 311870 </a>
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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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<div class="btn-group ">
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<a href="/clinicalSynopsis/300559" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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<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')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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</div>
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<div class="btn-group">
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<a href="/phenotypicSeries/PS232200" class="btn btn-info" role="button"> Phenotypic Series </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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</div>
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<div class="btn-group">
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
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PheneGene Graphics <span class="caret"></span>
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
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<li><a href="/graph/linear/300559" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/300559" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</ul>
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</div>
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<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>
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<div>
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<p />
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</div>
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
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<div class="small" style="margin: 5px">
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> INHERITANCE </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- X-linked recessive <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1845977&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1845977</a>, <a href="https://bioportal.bioontology.org/search?q=C1279481&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1279481</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001419" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001419</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001419" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001419</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> MUSCLE, SOFT TISSUES </strong>
|
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- 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 /> -
|
|
Muscle pain, exercise-induced <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1850830&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1850830</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003738" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003738</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003738" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003738</a>]</span><br /> -
|
|
Muscle stiffness, exercise-induced <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855579&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855579</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008967" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008967</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008967" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008967</a>]</span><br /> -
|
|
Exercise intolerance <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/267044007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">267044007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0424551&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0424551</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003546" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003546</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003546" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003546</a>]</span><br /> -
|
|
Muscle biopsy shows increased subsarcolemmal vacuolar glycogen accumulation <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1845152&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1845152</a>]</span><br /> -
|
|
Muscle biopsy shows mitochondrial paracrystalline inclusions <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1845153&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1845153</a>]</span><br /> -
|
|
Muscle biopsy shows decreased muscle-specific phosphorylase kinase activity <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1845154&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1845154</a>]</span><br />
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|
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</span>
|
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</div>
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</div>
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</div>
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<div>
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> LABORATORY ABNORMALITIES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Increased serum creatine kinase <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0241005&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0241005</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003236" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003236</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003236" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003236</a>]</span><br /> -
|
|
Myoglobinuria, exercise-induced <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1845155&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1845155</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008305" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008305</a>]</span><br />
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|
|
</span>
|
|
</div>
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</div>
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</div>
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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Variable age at onset (childhood to adult)<br /> -
|
|
Most patients have adult onset of symptoms<br />
|
|
|
|
</span>
|
|
</div>
|
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|
|
</div>
|
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|
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</div>
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Caused by mutation in the muscle-specific phosphorylase kinase subunit A1 gene (PHKA1, <a href="/entry/311870#0001">311870.0001</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
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|
|
</div>
|
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|
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</div>
|
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|
|
<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
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|
|
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
|
|
|
|
|
|
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|
|
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|
|
<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Glycogen storage disease
|
|
- <a href="/phenotypicSeries/PS232200">PS232200</a>
|
|
- 24 Entries
|
|
</h5>
|
|
</div>
|
|
</div>
|
|
|
|
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
|
<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
|
<thead>
|
|
<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Location</strong>
|
|
</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
|
<strong>Phenotype</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Inheritance</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />mapping key</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />MIM number</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus<br />MIM number</strong>
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/681?start=-3&limit=10&highlight=681"> 1p31.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614921"> Congenital disorder of glycosylation, type It </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614921"> 614921 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/171900"> PGM1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/171900"> 171900 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/832?start=-3&limit=10&highlight=832"> 1p21.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/232400"> Glycogen storage disease IIIb </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/232400"> 232400 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610860"> AGL </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610860"> 610860 </a>
|
|
</span>
|
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</td>
|
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</tr>
|
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|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
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|
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<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">
|
|
|
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
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</span>
|
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</td>
|
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<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>
|
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</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/472?start=-3&limit=10&highlight=472"> 3p12.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/232500"> Glycogen storage disease IV </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/232500"> 232500 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607839"> GBE1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607839"> 607839 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/763?start=-3&limit=10&highlight=763"> 3q24 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613507"> ?Glycogen storage disease XV </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613507"> 613507 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603942"> GYG1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603942"> 603942 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/7/225?start=-3&limit=10&highlight=225"> 7p13 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/261670"> Glycogen storage disease X </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/261670"> 261670 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612931"> PGAM2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612931"> 612931 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/7/840?start=-3&limit=10&highlight=840"> 7q36.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/261740"> Glycogen storage disease of heart, lethal congenital </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/261740"> 261740 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602743"> PRKAG2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602743"> 602743 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/223?start=-3&limit=10&highlight=223"> 11p15.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612933"> Glycogen storage disease XI </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612933"> 612933 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/150000"> LDHA </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/150000"> 150000 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/558?start=-3&limit=10&highlight=558"> 11q13.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/232600"> McArdle disease </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/232600"> 232600 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608455"> PYGM </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608455"> 608455 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/1001?start=-3&limit=10&highlight=1001"> 11q23.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/232240"> Glycogen storage disease Ic </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/232240"> 232240 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602671"> SLC37A4 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602671"> 602671 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/1001?start=-3&limit=10&highlight=1001"> 11q23.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/232220"> Glycogen storage disease Ib </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/232220"> 232220 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602671"> SLC37A4 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602671"> 602671 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/12/227?start=-3&limit=10&highlight=227"> 12p12.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/240600"> Glycogen storage disease 0, liver </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/240600"> 240600 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/138571"> GYS2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/138571"> 138571 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/12/327?start=-3&limit=10&highlight=327"> 12q13.11 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/232800"> Glycogen storage disease VII </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/232800"> 232800 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610681"> PFKM </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610681"> 610681 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/14/229?start=-3&limit=10&highlight=229"> 14q22.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/232700"> Glycogen storage disease VI </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/232700"> 232700 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613741"> PYGL </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613741"> 613741 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/16/342?start=-3&limit=10&highlight=342"> 16p11.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611881"> Glycogen storage disease XII </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611881"> 611881 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/103850"> ALDOA </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/103850"> 103850 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/16/364?start=-3&limit=10&highlight=364"> 16p11.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613027"> Glycogen storage disease IXc </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613027"> 613027 </a>
|
|
</span>
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<a href="/entry/172471"> PHKG2 </a>
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<span class="mim-font">
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<a href="/entry/172471"> 172471 </a>
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<a href="/geneMap/16/414?start=-3&limit=10&highlight=414"> 16q12.1 </a>
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<span class="mim-font">
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<a href="/entry/261750"> Phosphorylase kinase deficiency of liver and muscle, autosomal recessive </a>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
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<a href="/entry/261750"> 261750 </a>
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<span class="mim-font">
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<a href="/entry/172490"> PHKB </a>
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<span class="mim-font">
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<a href="/entry/172490"> 172490 </a>
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<a href="/geneMap/17/96?start=-3&limit=10&highlight=96"> 17p13.2 </a>
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<span class="mim-font">
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<a href="/entry/612932"> Glycogen storage disease XIII </a>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
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<a href="/entry/612932"> 612932 </a>
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<span class="mim-font">
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<a href="/entry/131370"> ENO3 </a>
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<span class="mim-font">
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<a href="/entry/131370"> 131370 </a>
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<span class="mim-font">
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<a href="/geneMap/17/603?start=-3&limit=10&highlight=603"> 17q21.31 </a>
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</span>
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<span class="mim-font">
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<a href="/entry/232200"> Glycogen storage disease Ia </a>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<td>
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<span class="mim-font">
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<a href="/entry/232200"> 232200 </a>
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<td>
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<span class="mim-font">
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<a href="/entry/613742"> G6PC </a>
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<span class="mim-font">
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<a href="/entry/613742"> 613742 </a>
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<span class="mim-font">
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<a href="/geneMap/17/1014?start=-3&limit=10&highlight=1014"> 17q25.3 </a>
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</span>
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<td>
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<span class="mim-font">
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<a href="/entry/232300"> Glycogen storage disease II </a>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<td>
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<span class="mim-font">
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<a href="/entry/232300"> 232300 </a>
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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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<a href="/entry/606800"> GAA </a>
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<td>
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<span class="mim-font">
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<a href="/entry/606800"> 606800 </a>
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<span class="mim-font">
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<a href="/geneMap/19/921?start=-3&limit=10&highlight=921"> 19q13.33 </a>
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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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<a href="/entry/611556"> Glycogen storage disease 0, muscle </a>
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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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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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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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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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<td>
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<span class="mim-font">
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<a href="/entry/611556"> 611556 </a>
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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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<a href="/entry/138570"> GYS1 </a>
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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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<a href="/entry/138570"> 138570 </a>
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</span>
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</td>
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<span class="mim-font">
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<a href="/geneMap/X/102?start=-3&limit=10&highlight=102"> Xp22.13 </a>
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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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<a href="/entry/306000"> Glycogen storage disease, type IXa1 </a>
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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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<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
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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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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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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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<a href="/entry/306000"> 306000 </a>
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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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<a href="/entry/300798"> PHKA2 </a>
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</span>
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<span class="mim-font">
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<a href="/entry/300798"> 300798 </a>
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</span>
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</td>
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<span class="mim-font">
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<a href="/geneMap/X/102?start=-3&limit=10&highlight=102"> Xp22.13 </a>
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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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<a href="/entry/306000"> Glycogen storage disease, type IXa2 </a>
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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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<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
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</span>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<span class="mim-font">
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<a href="/entry/306000"> 306000 </a>
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</span>
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<td>
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<span class="mim-font">
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<a href="/entry/300798"> PHKA2 </a>
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</span>
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<span class="mim-font">
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<a href="/entry/300798"> 300798 </a>
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</span>
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<span class="mim-font">
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<a href="/geneMap/X/422?start=-3&limit=10&highlight=422"> Xq13.1 </a>
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</span>
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<span class="mim-font">
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<a href="/entry/300559"> Muscle glycogenosis </a>
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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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<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
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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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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
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<a href="/entry/300559"> 300559 </a>
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</span>
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<span class="mim-font">
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<a href="/entry/311870"> PHKA1 </a>
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<span class="mim-font">
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<a href="/entry/311870"> 311870 </a>
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<div class="text-right small">
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<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">▲ Close</a>
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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because glycogen storage disease IXd (GDS9D), also known as X-linked muscle phosphorylase kinase deficiency, is caused by mutation in the PHKA1 gene (<a href="/entry/311870">311870</a>), which encodes the alpha subunit of muscle phosphorylase kinase, on chromosome Xq13.</p>
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<a id="description" class="mim-anchor"></a>
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<strong>Description</strong>
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<p>Glycogen storage disease IXd (GSD9D) is an X-linked recessive, relatively mild metabolic disorder characterized by variable exercise-induced muscle weakness or stiffness. Most patients have adult onset of symptoms, and some remain asymptomatic even in late adulthood. The phenotype is usually only apparent with intense exercise (summary by <a href="#6" class="mim-tip-reference" title="Preisler, N., Orngreen, M. C., Echaniz-Laguna, A., Laforet, P., Lonsdorfer-Wolf, E., Doutreleau, S., Geny, B., Akman, H.O., DiMauro, S., Vissing, J. <strong>Muscle phosphorylase kinase deficiency: a neutral metabolic variant or a disease?</strong> Neurology 78: 265-268, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22238410/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22238410</a>] [<a href="https://doi.org/10.1212/WNL.0b013e31824365f9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22238410">Preisler et al., 2012</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22238410" 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>For a discussion of genetic heterogeneity of GSD IX, see GSD9A (<a href="/entry/306000">306000</a>).</p>
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<strong>Clinical Features</strong>
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<p><a href="#1" class="mim-tip-reference" title="Abarbanel, J. M., Bashan, N., Potashnik, R., Osimani, A., Moses, S. W., Herishanu, Y. <strong>Adult muscle phosphorylase 'b' kinase deficiency.</strong> Neurology 36: 560-562, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3083284/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3083284</a>] [<a href="https://doi.org/10.1212/wnl.36.4.560" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3083284">Abarbanel et al. (1986)</a> reported a 35-year-old man with severe exercise intolerance and muscle cramps. Muscle biopsy showed subsarcolemmal and intermyofibrillar accumulation of glycogen. Muscle phosphorylase kinase activity was 12% of control values. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3083284" 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="#4" class="mim-tip-reference" title="Clemens, P. R., Yamamoto, M., Engel, A. G. <strong>Adult phosphorylase b kinase deficiency.</strong> Ann. Neurol. 28: 529-538, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2252364/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2252364</a>] [<a href="https://doi.org/10.1002/ana.410280410" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2252364">Clemens et al. (1990)</a> reported 2 unrelated patients with muscle phosphorylase kinase deficiency. Patient 1 was a 58-year-old man who had predominantly distal weakness beginning at age 46 years, but no cramps on exertion. Patient 2 was a 26-year-old man who had had cramps on exertion since age 6, but no muscle weakness. Muscle lactate production during ischemic exercise was impaired only in the first patient. In both patients, serum creatine kinase level was elevated, muscle phosphorylase kinase activity was low, and red cell activity was normal. Liver-specific phosphorylase kinase (<a href="/entry/300798">300798</a>) activity, measured in patient 1, was also normal. <a href="#8" class="mim-tip-reference" title="Wehner, M., Clemens, P. R., Engel, A. G., Kilimann, M. W. <strong>Human muscle glycogenosis due to phosphorylase kinase deficiency associated with a nonsense mutation in the muscle isoform of the alpha subunit.</strong> Hum. Molec. Genet. 3: 1983-1987, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7874115/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7874115</a>] [<a href="https://doi.org/10.1093/hmg/3.11.1983" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7874115">Wehner et al. (1994)</a> provided follow-up on patient 1 reported by <a href="#4" class="mim-tip-reference" title="Clemens, P. R., Yamamoto, M., Engel, A. G. <strong>Adult phosphorylase b kinase deficiency.</strong> Ann. Neurol. 28: 529-538, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2252364/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2252364</a>] [<a href="https://doi.org/10.1002/ana.410280410" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2252364">Clemens et al. (1990)</a>. He had slowly progressive, predominantly distal muscle weakness and atrophy beginning at age 46. He showed symptoms of hypoglycemia upon exertion. At age 64 years, he had weakness of the leg, arm, and abdominal muscles, rapid fatigue on exercise, and requirement for ankle braces. Phosphorylase kinase activity was 0.3% of normal in muscle, but normal in red blood cells and liver. Muscle biopsy showed mild glycogenosis with subsarcolemmal accumulations of glycogen and focal muscle fiber necrosis. The patient's mother, who died at the age of about 26 years, and his daughter, aged 33 at the time of the report, were reportedly asymptomatic. <a href="#3" class="mim-tip-reference" title="Burwinkel, B., Hu, B., Schroers, A., Clemens, P. R., Moses, S. W., Shin, Y. S., Pongratz, D., Vorgerd, M., Kilimann, M. W. <strong>Muscle glycogenosis with low phosphorylase kinase activity: mutations in PHKA1, PHKG1 or six other candidate genes explain only a minority of cases.</strong> Europ. J. Hum. Genet. 11: 516-526, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12825073/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12825073</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200996" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12825073">Burwinkel et al. (2003)</a> reported follow-up on patient 2 reported by <a href="#4" class="mim-tip-reference" title="Clemens, P. R., Yamamoto, M., Engel, A. G. <strong>Adult phosphorylase b kinase deficiency.</strong> Ann. Neurol. 28: 529-538, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2252364/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2252364</a>] [<a href="https://doi.org/10.1002/ana.410280410" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2252364">Clemens et al. (1990)</a>. At follow-up, he was a 36-year-old man with exercise-induced cramps, pain, and early fatigue since age 6 years, and occasional pigmenturia after intense exertion. Muscle glycogen concentration was elevated, and subsarcolemmal glycogen accumulation was observed in muscle histology. Total phosphorylase was normal in muscle, and phosphorylase kinase activity was markedly reduced in muscle, but normal in red blood cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12825073+7874115+2252364" 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="Wuyts, W., Reyniers, E., Ceuterick, C., Storm, K., de Barsy, T., Martin, J.-J. <strong>Myopathy and phosphorylase kinase deficiency caused by a mutation in the PHKA1 gene.</strong> Am. J. Med. Genet. 133A: 82-84, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15637709/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15637709</a>] [<a href="https://doi.org/10.1002/ajmg.a.30517" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15637709">Wuyts et al. (2005)</a> reported a man with muscle phosphorylase kinase deficiency confirmed by genetic analysis (<a href="/entry/311870#0004">311870.0004</a>). He first presented at age 43 years with pain and weakness of the quadriceps muscle. Creatine kinase was mildly elevated. Over the subsequent 8 years, he had slowly progressive weakness of the pelvic girdle muscles without pyramidal or cerebellar signs. Muscle biopsy and ultrastructural analysis showed large amounts of subsarcolemmal free glycogen accumulation and a few mitochondrial paracrystalline inclusions. Biochemical analysis showed normal total muscle phosphorylase activity, but absence of phosphorylase kinase activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15637709" 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="Orngreen, M. C., Schelhaas, H. J., Jeppesen, T. D., Akman, H. O., Wevers, R. A., Andersen, S. T., ter Laak, H. J., van Diggelen, O. P., DiMauro, S., Vissing, J. <strong>Is muscle glycogenolysis impaired in X-linked phosphorylase b kinase deficiency?</strong> Neurology 70: 1876-1882, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18401027/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18401027</a>] [<a href="https://doi.org/10.1212/01.wnl.0000289190.66955.67" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18401027">Orngreen et al. (2008)</a> reported a 50-year-old man with muscle phosphorylase kinase deficiency confirmed by genetic analysis (<a href="/entry/311870#0005">311870.0005</a>). He reported progressive exercise intolerance, muscle stiffness on exercise, and nighttime muscle cramps since childhood. Serum creatine kinase levels were mildly elevated on several occasions, and there was low muscle PHK activity and high muscle glycogen content. During a cycle ergonometry test, the patient showed low-normal maximum oxidative capacity that was higher than that of 12 patients with McArdle disease, or myophosphorylase deficiency (<a href="/entry/232600">232600</a>). Peak serum lactate of the patient with PHK deficiency was decreased compared to 5 healthy men, but higher than that of the those with McArdle disease, indicating impaired oxidation of carbohydrate in the disease groups. The patient with PHK deficiency showed mild improvement of exercise tolerance with intravenous glucose infusion. There was a normal increase in serum lactate in the forearm ischemic exercise test, suggesting a discrepancy in glycogen breakdown impairment during anaerobic and aerobic exercise in PHK deficiency that may result from different activation pathways for myophosphorylase. Overall, the findings demonstrated that X-linked PHK deficiency is a mild metabolic myopathy characterized by impaired lactate production during moderate-intensity dynamic exercise and mild elevations of plasma creatine kinase and muscle glycogen content. <a href="#5" class="mim-tip-reference" title="Orngreen, M. C., Schelhaas, H. J., Jeppesen, T. D., Akman, H. O., Wevers, R. A., Andersen, S. T., ter Laak, H. J., van Diggelen, O. P., DiMauro, S., Vissing, J. <strong>Is muscle glycogenolysis impaired in X-linked phosphorylase b kinase deficiency?</strong> Neurology 70: 1876-1882, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18401027/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18401027</a>] [<a href="https://doi.org/10.1212/01.wnl.0000289190.66955.67" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18401027">Orngreen et al. (2008)</a> noted that the clinical severity of PHK deficiency resembles another partial glycolytic defect, phosphoglycerate mutase deficiency (<a href="/entry/261670">261670</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18401027" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Preisler, N., Orngreen, M. C., Echaniz-Laguna, A., Laforet, P., Lonsdorfer-Wolf, E., Doutreleau, S., Geny, B., Akman, H.O., DiMauro, S., Vissing, J. <strong>Muscle phosphorylase kinase deficiency: a neutral metabolic variant or a disease?</strong> Neurology 78: 265-268, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22238410/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22238410</a>] [<a href="https://doi.org/10.1212/WNL.0b013e31824365f9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22238410">Preisler et al. (2012)</a> reported 2 unrelated adult men with genetically confirmed GSD IXd: a 39-year-old with mild exercise-induced forearm pain and a 69-year-old with persistently increased serum creatine kinase after statin treatment (see <a href="/entry/311870#0004">311870.0004</a>), but no other symptoms. Both patients had increased glycogen levels in muscle and PHK activity less than 11% of normal. Both had a normal increase in plasma lactate on anaerobic exercise, but showed an exaggerated 5-fold increase in ammonia levels. An incremental exercise test revealed a blunted lactate response compared to controls; fat and carbohydrate oxidation rates at 70% of peak oxygen consumption were normal. Glucose infusion did not improve work capacity. <a href="#6" class="mim-tip-reference" title="Preisler, N., Orngreen, M. C., Echaniz-Laguna, A., Laforet, P., Lonsdorfer-Wolf, E., Doutreleau, S., Geny, B., Akman, H.O., DiMauro, S., Vissing, J. <strong>Muscle phosphorylase kinase deficiency: a neutral metabolic variant or a disease?</strong> Neurology 78: 265-268, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22238410/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22238410</a>] [<a href="https://doi.org/10.1212/WNL.0b013e31824365f9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22238410">Preisler et al. (2012)</a> concluded that muscle PHK deficiency may present as an almost asymptomatic condition, despite a mild impairment of muscle glycogenolysis, raised CK levels, and glycogen accumulation in muscle. The relative preservation of glycogenolysis was explained by activation of myophosphorylase (PYGM; <a href="/entry/608455">608455</a>) at high exercise intensities. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22238410" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In patient 1 with phosphorylase kinase deficiency reported by <a href="#4" class="mim-tip-reference" title="Clemens, P. R., Yamamoto, M., Engel, A. G. <strong>Adult phosphorylase b kinase deficiency.</strong> Ann. Neurol. 28: 529-538, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2252364/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2252364</a>] [<a href="https://doi.org/10.1002/ana.410280410" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2252364">Clemens et al. (1990)</a>, <a href="#8" class="mim-tip-reference" title="Wehner, M., Clemens, P. R., Engel, A. G., Kilimann, M. W. <strong>Human muscle glycogenosis due to phosphorylase kinase deficiency associated with a nonsense mutation in the muscle isoform of the alpha subunit.</strong> Hum. Molec. Genet. 3: 1983-1987, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7874115/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7874115</a>] [<a href="https://doi.org/10.1093/hmg/3.11.1983" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7874115">Wehner et al. (1994)</a> identified a nonsense mutation in the PHKA1 gene (<a href="/entry/311870#0001">311870.0001</a>). The findings confirmed that the condition in this patient was a human homolog of the X-linked muscle Phk deficiency of the I-strain mouse (<a href="#7" class="mim-tip-reference" title="Schneider, A., Davidson, J. J., Wullrich, A., Kilimann, M. W. <strong>Phosphorylase kinase deficiency in I-strain mice is associated with a frameshift mutation in the alpha-subunit muscle isoform.</strong> Nature Genet. 5: 381-385, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8298647/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8298647</a>] [<a href="https://doi.org/10.1038/ng1293-381" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8298647">Schneider et al., 1993</a>). In patient 2 of <a href="#4" class="mim-tip-reference" title="Clemens, P. R., Yamamoto, M., Engel, A. G. <strong>Adult phosphorylase b kinase deficiency.</strong> Ann. Neurol. 28: 529-538, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2252364/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2252364</a>] [<a href="https://doi.org/10.1002/ana.410280410" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2252364">Clemens et al. (1990)</a>, <a href="#3" class="mim-tip-reference" title="Burwinkel, B., Hu, B., Schroers, A., Clemens, P. R., Moses, S. W., Shin, Y. S., Pongratz, D., Vorgerd, M., Kilimann, M. W. <strong>Muscle glycogenosis with low phosphorylase kinase activity: mutations in PHKA1, PHKG1 or six other candidate genes explain only a minority of cases.</strong> Europ. J. Hum. Genet. 11: 516-526, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12825073/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12825073</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200996" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12825073">Burwinkel et al. (2003)</a> identified a missense mutation in the PHKA1 gene (<a href="/entry/311870#0003">311870.0003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8298647+7874115+2252364+12825073" 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="Burwinkel, B., Hu, B., Schroers, A., Clemens, P. R., Moses, S. W., Shin, Y. S., Pongratz, D., Vorgerd, M., Kilimann, M. W. <strong>Muscle glycogenosis with low phosphorylase kinase activity: mutations in PHKA1, PHKG1 or six other candidate genes explain only a minority of cases.</strong> Europ. J. Hum. Genet. 11: 516-526, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12825073/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12825073</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200996" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12825073">Burwinkel et al. (2003)</a> screened 5 other patients with decreased muscle PHK activity for mutations in 6 genes that contribute to muscle PHK, in the muscle isoform of glycogen phosphorylase (PYGM; <a href="/entry/608455">608455</a>), and in a muscle-specific regulatory subunit of protein kinase (PRKAG3; <a href="/entry/604976">604976</a>). Two patients were heterozygous for single amino acid replacements of unclear significance in the beta subunit of phosphorylase kinase (PHKB; <a href="/entry/172490">172490</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12825073" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Bruno, C., Manfredi, G., Andreu, A. L., Shanske, S., Krishna, S., Ilse, W. K., DiMauro, S. <strong>A splice junction mutation in the alpha-M gene of phosphorylase kinase in a patient with myopathy.</strong> Biochem. Biophys. Res. Commun. 249: 648-651, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9731190/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9731190</a>] [<a href="https://doi.org/10.1006/bbrc.1998.9211" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9731190">Bruno et al. (1998)</a> reported a splice junction mutation in the PHKA1 gene (<a href="/entry/311870#0002">311870.0002</a>) in a 28-year old Caucasian male with exercise intolerance, myoglobinuria, and muscle phosphorylase kinase deficiency. The patient, reported as patient 1 of <a href="#9" class="mim-tip-reference" title="Wilkinson, D. A., Tonin, P., Shanske, S., Lombes, A., Carlson, G. M., DiMauro, S. <strong>Clinical and biochemical features of 10 adult patients with muscle phosphorylase kinase deficiency.</strong> Neurology 44: 461-466, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8145916/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8145916</a>] [<a href="https://doi.org/10.1212/wnl.44.3_part_1.461" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8145916">Wilkinson et al. (1994)</a>, had been diagnosed with PHK deficiency at age 15 years. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8145916+9731190" 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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Abarbanel, J. M., Bashan, N., Potashnik, R., Osimani, A., Moses, S. W., Herishanu, Y.
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<strong>Adult muscle phosphorylase 'b' kinase deficiency.</strong>
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Neurology 36: 560-562, 1986.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3083284/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3083284</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3083284" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Bruno, C., Manfredi, G., Andreu, A. L., Shanske, S., Krishna, S., Ilse, W. K., DiMauro, S.
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<strong>A splice junction mutation in the alpha-M gene of phosphorylase kinase in a patient with myopathy.</strong>
|
|
Biochem. Biophys. Res. Commun. 249: 648-651, 1998.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9731190/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9731190</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9731190" 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/10.1006/bbrc.1998.9211" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="3" class="mim-anchor"></a>
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<a id="Burwinkel2003" class="mim-anchor"></a>
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<div class="">
|
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<p class="mim-text-font">
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|
Burwinkel, B., Hu, B., Schroers, A., Clemens, P. R., Moses, S. W., Shin, Y. S., Pongratz, D., Vorgerd, M., Kilimann, M. W.
|
|
<strong>Muscle glycogenosis with low phosphorylase kinase activity: mutations in PHKA1, PHKG1 or six other candidate genes explain only a minority of cases.</strong>
|
|
Europ. J. Hum. Genet. 11: 516-526, 2003.
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|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12825073/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12825073</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12825073" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/sj.ejhg.5200996" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="4" class="mim-anchor"></a>
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<a id="Clemens1990" class="mim-anchor"></a>
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<div class="">
|
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<p class="mim-text-font">
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|
Clemens, P. R., Yamamoto, M., Engel, A. G.
|
|
<strong>Adult phosphorylase b kinase deficiency.</strong>
|
|
Ann. Neurol. 28: 529-538, 1990.
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2252364/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2252364</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2252364" 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/10.1002/ana.410280410" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="5" class="mim-anchor"></a>
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<a id="Orngreen2008" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Orngreen, M. C., Schelhaas, H. J., Jeppesen, T. D., Akman, H. O., Wevers, R. A., Andersen, S. T., ter Laak, H. J., van Diggelen, O. P., DiMauro, S., Vissing, J.
|
|
<strong>Is muscle glycogenolysis impaired in X-linked phosphorylase b kinase deficiency?</strong>
|
|
Neurology 70: 1876-1882, 2008.
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|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18401027/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18401027</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18401027" 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/10.1212/01.wnl.0000289190.66955.67" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="6" class="mim-anchor"></a>
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<a id="Preisler2012" class="mim-anchor"></a>
|
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<div class="">
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<p class="mim-text-font">
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|
Preisler, N., Orngreen, M. C., Echaniz-Laguna, A., Laforet, P., Lonsdorfer-Wolf, E., Doutreleau, S., Geny, B., Akman, H.O., DiMauro, S., Vissing, J.
|
|
<strong>Muscle phosphorylase kinase deficiency: a neutral metabolic variant or a disease?</strong>
|
|
Neurology 78: 265-268, 2012.
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22238410/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22238410</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22238410" 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/10.1212/WNL.0b013e31824365f9" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="7" class="mim-anchor"></a>
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<a id="Schneider1993" class="mim-anchor"></a>
|
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<div class="">
|
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<p class="mim-text-font">
|
|
Schneider, A., Davidson, J. J., Wullrich, A., Kilimann, M. W.
|
|
<strong>Phosphorylase kinase deficiency in I-strain mice is associated with a frameshift mutation in the alpha-subunit muscle isoform.</strong>
|
|
Nature Genet. 5: 381-385, 1993.
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|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8298647/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8298647</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8298647" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ng1293-381" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="8" class="mim-anchor"></a>
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<a id="Wehner1994" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wehner, M., Clemens, P. R., Engel, A. G., Kilimann, M. W.
|
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<strong>Human muscle glycogenosis due to phosphorylase kinase deficiency associated with a nonsense mutation in the muscle isoform of the alpha subunit.</strong>
|
|
Hum. Molec. Genet. 3: 1983-1987, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7874115/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7874115</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7874115" 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/10.1093/hmg/3.11.1983" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="9" class="mim-anchor"></a>
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<a id="Wilkinson1994" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wilkinson, D. A., Tonin, P., Shanske, S., Lombes, A., Carlson, G. M., DiMauro, S.
|
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<strong>Clinical and biochemical features of 10 adult patients with muscle phosphorylase kinase deficiency.</strong>
|
|
Neurology 44: 461-466, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8145916/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8145916</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8145916" 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/10.1212/wnl.44.3_part_1.461" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="10" class="mim-anchor"></a>
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<a id="Wuyts2005" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wuyts, W., Reyniers, E., Ceuterick, C., Storm, K., de Barsy, T., Martin, J.-J.
|
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<strong>Myopathy and phosphorylase kinase deficiency caused by a mutation in the PHKA1 gene.</strong>
|
|
Am. J. Med. Genet. 133A: 82-84, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15637709/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15637709</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15637709" 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/10.1002/ajmg.a.30517" target="_blank">Full Text</a>]
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</p>
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</div>
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</ol>
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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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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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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>
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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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Cassandra L. Kniffin - updated : 10/31/2012
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</span>
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</div>
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</div>
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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 : 9/30/2008
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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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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</span>
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</div>
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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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Cassandra L. Kniffin : 10/12/2005
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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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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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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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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carol : 05/11/2022
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 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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carol : 07/15/2021<br>carol : 06/20/2019<br>alopez : 09/23/2016<br>mcolton : 05/01/2014<br>carol : 11/6/2012<br>ckniffin : 10/31/2012<br>carol : 12/1/2010<br>carol : 10/1/2009<br>ckniffin : 9/24/2009<br>wwang : 10/3/2008<br>ckniffin : 9/30/2008<br>carol : 4/17/2007<br>carol : 10/19/2005<br>ckniffin : 10/12/2005
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>#</strong> 300559
|
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</span>
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</h3>
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</div>
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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 IXd; GSD9D
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div >
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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GSD IXd<br />
|
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MUSCLE PHOSPHORYLASE KINASE DEFICIENCY<br />
|
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MUSCLE GLYCOGENOSIS, X-LINKED
|
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</span>
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</h4>
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</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>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 819953000;
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<strong>ORPHA:</strong> 715;
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<strong>DO:</strong> 0111040;
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<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>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
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<th>
|
|
Inheritance
|
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</th>
|
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<th>
|
|
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>
|
|
Gene/Locus <br /> MIM number
|
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</th>
|
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</tr>
|
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</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
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<td>
|
|
<span class="mim-font">
|
|
Xq13.1
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
Muscle glycogenosis
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
300559
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
X-linked recessive
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
PHKA1
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
311870
|
|
</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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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>TEXT</strong>
|
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</span>
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</h4>
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<span class="mim-text-font">
|
|
<p>A number sign (#) is used with this entry because glycogen storage disease IXd (GDS9D), also known as X-linked muscle phosphorylase kinase deficiency, is caused by mutation in the PHKA1 gene (311870), which encodes the alpha subunit of muscle phosphorylase kinase, on chromosome Xq13.</p>
|
|
</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>
|
|
<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</span>
|
|
</h4>
|
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</div>
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<span class="mim-text-font">
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<p>Glycogen storage disease IXd (GSD9D) is an X-linked recessive, relatively mild metabolic disorder characterized by variable exercise-induced muscle weakness or stiffness. Most patients have adult onset of symptoms, and some remain asymptomatic even in late adulthood. The phenotype is usually only apparent with intense exercise (summary by Preisler et al., 2012). </p><p>For a discussion of genetic heterogeneity of GSD IX, see GSD9A (306000).</p>
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<strong>Clinical Features</strong>
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<p>Abarbanel et al. (1986) reported a 35-year-old man with severe exercise intolerance and muscle cramps. Muscle biopsy showed subsarcolemmal and intermyofibrillar accumulation of glycogen. Muscle phosphorylase kinase activity was 12% of control values. </p><p>Clemens et al. (1990) reported 2 unrelated patients with muscle phosphorylase kinase deficiency. Patient 1 was a 58-year-old man who had predominantly distal weakness beginning at age 46 years, but no cramps on exertion. Patient 2 was a 26-year-old man who had had cramps on exertion since age 6, but no muscle weakness. Muscle lactate production during ischemic exercise was impaired only in the first patient. In both patients, serum creatine kinase level was elevated, muscle phosphorylase kinase activity was low, and red cell activity was normal. Liver-specific phosphorylase kinase (300798) activity, measured in patient 1, was also normal. Wehner et al. (1994) provided follow-up on patient 1 reported by Clemens et al. (1990). He had slowly progressive, predominantly distal muscle weakness and atrophy beginning at age 46. He showed symptoms of hypoglycemia upon exertion. At age 64 years, he had weakness of the leg, arm, and abdominal muscles, rapid fatigue on exercise, and requirement for ankle braces. Phosphorylase kinase activity was 0.3% of normal in muscle, but normal in red blood cells and liver. Muscle biopsy showed mild glycogenosis with subsarcolemmal accumulations of glycogen and focal muscle fiber necrosis. The patient's mother, who died at the age of about 26 years, and his daughter, aged 33 at the time of the report, were reportedly asymptomatic. Burwinkel et al. (2003) reported follow-up on patient 2 reported by Clemens et al. (1990). At follow-up, he was a 36-year-old man with exercise-induced cramps, pain, and early fatigue since age 6 years, and occasional pigmenturia after intense exertion. Muscle glycogen concentration was elevated, and subsarcolemmal glycogen accumulation was observed in muscle histology. Total phosphorylase was normal in muscle, and phosphorylase kinase activity was markedly reduced in muscle, but normal in red blood cells. </p><p>Wuyts et al. (2005) reported a man with muscle phosphorylase kinase deficiency confirmed by genetic analysis (311870.0004). He first presented at age 43 years with pain and weakness of the quadriceps muscle. Creatine kinase was mildly elevated. Over the subsequent 8 years, he had slowly progressive weakness of the pelvic girdle muscles without pyramidal or cerebellar signs. Muscle biopsy and ultrastructural analysis showed large amounts of subsarcolemmal free glycogen accumulation and a few mitochondrial paracrystalline inclusions. Biochemical analysis showed normal total muscle phosphorylase activity, but absence of phosphorylase kinase activity. </p><p>Orngreen et al. (2008) reported a 50-year-old man with muscle phosphorylase kinase deficiency confirmed by genetic analysis (311870.0005). He reported progressive exercise intolerance, muscle stiffness on exercise, and nighttime muscle cramps since childhood. Serum creatine kinase levels were mildly elevated on several occasions, and there was low muscle PHK activity and high muscle glycogen content. During a cycle ergonometry test, the patient showed low-normal maximum oxidative capacity that was higher than that of 12 patients with McArdle disease, or myophosphorylase deficiency (232600). Peak serum lactate of the patient with PHK deficiency was decreased compared to 5 healthy men, but higher than that of the those with McArdle disease, indicating impaired oxidation of carbohydrate in the disease groups. The patient with PHK deficiency showed mild improvement of exercise tolerance with intravenous glucose infusion. There was a normal increase in serum lactate in the forearm ischemic exercise test, suggesting a discrepancy in glycogen breakdown impairment during anaerobic and aerobic exercise in PHK deficiency that may result from different activation pathways for myophosphorylase. Overall, the findings demonstrated that X-linked PHK deficiency is a mild metabolic myopathy characterized by impaired lactate production during moderate-intensity dynamic exercise and mild elevations of plasma creatine kinase and muscle glycogen content. Orngreen et al. (2008) noted that the clinical severity of PHK deficiency resembles another partial glycolytic defect, phosphoglycerate mutase deficiency (261670). </p><p>Preisler et al. (2012) reported 2 unrelated adult men with genetically confirmed GSD IXd: a 39-year-old with mild exercise-induced forearm pain and a 69-year-old with persistently increased serum creatine kinase after statin treatment (see 311870.0004), but no other symptoms. Both patients had increased glycogen levels in muscle and PHK activity less than 11% of normal. Both had a normal increase in plasma lactate on anaerobic exercise, but showed an exaggerated 5-fold increase in ammonia levels. An incremental exercise test revealed a blunted lactate response compared to controls; fat and carbohydrate oxidation rates at 70% of peak oxygen consumption were normal. Glucose infusion did not improve work capacity. Preisler et al. (2012) concluded that muscle PHK deficiency may present as an almost asymptomatic condition, despite a mild impairment of muscle glycogenolysis, raised CK levels, and glycogen accumulation in muscle. The relative preservation of glycogenolysis was explained by activation of myophosphorylase (PYGM; 608455) at high exercise intensities. </p>
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<strong>Molecular Genetics</strong>
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<p>In patient 1 with phosphorylase kinase deficiency reported by Clemens et al. (1990), Wehner et al. (1994) identified a nonsense mutation in the PHKA1 gene (311870.0001). The findings confirmed that the condition in this patient was a human homolog of the X-linked muscle Phk deficiency of the I-strain mouse (Schneider et al., 1993). In patient 2 of Clemens et al. (1990), Burwinkel et al. (2003) identified a missense mutation in the PHKA1 gene (311870.0003). </p><p>Burwinkel et al. (2003) screened 5 other patients with decreased muscle PHK activity for mutations in 6 genes that contribute to muscle PHK, in the muscle isoform of glycogen phosphorylase (PYGM; 608455), and in a muscle-specific regulatory subunit of protein kinase (PRKAG3; 604976). Two patients were heterozygous for single amino acid replacements of unclear significance in the beta subunit of phosphorylase kinase (PHKB; 172490). </p><p>Bruno et al. (1998) reported a splice junction mutation in the PHKA1 gene (311870.0002) in a 28-year old Caucasian male with exercise intolerance, myoglobinuria, and muscle phosphorylase kinase deficiency. The patient, reported as patient 1 of Wilkinson et al. (1994), had been diagnosed with PHK deficiency at age 15 years. </p>
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<strong>REFERENCES</strong>
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Abarbanel, J. M., Bashan, N., Potashnik, R., Osimani, A., Moses, S. W., Herishanu, Y.
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<strong>Adult muscle phosphorylase 'b' kinase deficiency.</strong>
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Neurology 36: 560-562, 1986.
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[PubMed: 3083284]
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[Full Text: https://doi.org/10.1212/wnl.36.4.560]
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Bruno, C., Manfredi, G., Andreu, A. L., Shanske, S., Krishna, S., Ilse, W. K., DiMauro, S.
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<strong>A splice junction mutation in the alpha-M gene of phosphorylase kinase in a patient with myopathy.</strong>
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Biochem. Biophys. Res. Commun. 249: 648-651, 1998.
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[PubMed: 9731190]
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[Full Text: https://doi.org/10.1006/bbrc.1998.9211]
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Burwinkel, B., Hu, B., Schroers, A., Clemens, P. R., Moses, S. W., Shin, Y. S., Pongratz, D., Vorgerd, M., Kilimann, M. W.
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<strong>Muscle glycogenosis with low phosphorylase kinase activity: mutations in PHKA1, PHKG1 or six other candidate genes explain only a minority of cases.</strong>
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Europ. J. Hum. Genet. 11: 516-526, 2003.
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[PubMed: 12825073]
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[Full Text: https://doi.org/10.1038/sj.ejhg.5200996]
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Clemens, P. R., Yamamoto, M., Engel, A. G.
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<strong>Adult phosphorylase b kinase deficiency.</strong>
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Ann. Neurol. 28: 529-538, 1990.
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[PubMed: 2252364]
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[Full Text: https://doi.org/10.1002/ana.410280410]
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Orngreen, M. C., Schelhaas, H. J., Jeppesen, T. D., Akman, H. O., Wevers, R. A., Andersen, S. T., ter Laak, H. J., van Diggelen, O. P., DiMauro, S., Vissing, J.
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<strong>Is muscle glycogenolysis impaired in X-linked phosphorylase b kinase deficiency?</strong>
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Neurology 70: 1876-1882, 2008.
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[PubMed: 18401027]
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[Full Text: https://doi.org/10.1212/01.wnl.0000289190.66955.67]
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Preisler, N., Orngreen, M. C., Echaniz-Laguna, A., Laforet, P., Lonsdorfer-Wolf, E., Doutreleau, S., Geny, B., Akman, H.O., DiMauro, S., Vissing, J.
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<strong>Muscle phosphorylase kinase deficiency: a neutral metabolic variant or a disease?</strong>
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Neurology 78: 265-268, 2012.
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[PubMed: 22238410]
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[Full Text: https://doi.org/10.1212/WNL.0b013e31824365f9]
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Schneider, A., Davidson, J. J., Wullrich, A., Kilimann, M. W.
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<strong>Phosphorylase kinase deficiency in I-strain mice is associated with a frameshift mutation in the alpha-subunit muscle isoform.</strong>
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Nature Genet. 5: 381-385, 1993.
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[PubMed: 8298647]
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[Full Text: https://doi.org/10.1038/ng1293-381]
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Wehner, M., Clemens, P. R., Engel, A. G., Kilimann, M. W.
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<strong>Human muscle glycogenosis due to phosphorylase kinase deficiency associated with a nonsense mutation in the muscle isoform of the alpha subunit.</strong>
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Hum. Molec. Genet. 3: 1983-1987, 1994.
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[PubMed: 7874115]
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[Full Text: https://doi.org/10.1093/hmg/3.11.1983]
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Wilkinson, D. A., Tonin, P., Shanske, S., Lombes, A., Carlson, G. M., DiMauro, S.
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<strong>Clinical and biochemical features of 10 adult patients with muscle phosphorylase kinase deficiency.</strong>
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Neurology 44: 461-466, 1994.
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[PubMed: 8145916]
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[Full Text: https://doi.org/10.1212/wnl.44.3_part_1.461]
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Wuyts, W., Reyniers, E., Ceuterick, C., Storm, K., de Barsy, T., Martin, J.-J.
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<strong>Myopathy and phosphorylase kinase deficiency caused by a mutation in the PHKA1 gene.</strong>
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Am. J. Med. Genet. 133A: 82-84, 2005.
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[PubMed: 15637709]
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[Full Text: https://doi.org/10.1002/ajmg.a.30517]
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Cassandra L. Kniffin - updated : 10/31/2012<br>Cassandra L. Kniffin - updated : 9/30/2008
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