3119 lines
221 KiB
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221 KiB
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Entry
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- #307030 - GLYCEROL KINASE DEFICIENCY; GKD
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- OMIM
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<p>
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<span class="h4">#307030</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/307030"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#history">History</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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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</a>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div><a href="https://clinicaltrials.gov/search?cond=GLYCEROL KINASE DEFICIENCY" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="#mimEuroGentestFold" id="mimEuroGentestToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A list of European laboratories that offer genetic testing."><span id="mimEuroGentestToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>EuroGentest</div>
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<div id="mimEuroGentestFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=20607&Typ=Pat" title="Glycerol kinase deficiency, juvenile form" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Glycerol kinase deficiency… </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=20608&Typ=Pat" title="Glycerol kinase deficiency, adult form" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Glycerol kinase deficiency… </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=463&Typ=Pat" title="Isolated glycerol kinase deficiency" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Isolated glycerol kinase d… </a></div>
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</div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1431/" 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/3554" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/nr0b1" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=307030[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div><a href="#mimOrphanetFold" id="mimOrphanetToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="European reference portal for information on rare diseases and orphan drugs."><span id="mimOrphanetToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Orphanet</div>
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<div id="mimOrphanetFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=284411" title="Glycerol kinase deficiency, juvenile form" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Glycerol kinase deficiency…</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=284414" title="Glycerol kinase deficiency, adult form" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Glycerol kinase deficiency…</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=408" title="Isolated glycerol kinase deficiency" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Isolated glycerol kinase d…</a></div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0060363" 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/307030" 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:0060363" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://catalog.coriell.org/Search?q=OmimNum:307030" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 124322002<br />
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<strong>ORPHA:</strong> 284411, 284414, 408<br />
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<strong>DO:</strong> 0060363<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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307030
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</span>
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</span>
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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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GLYCEROL KINASE DEFICIENCY; GKD
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</h3>
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</div>
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<div>
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<br />
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<span class="mim-font">
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|
<em>Alternative titles; symbols</em>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
GK DEFICIENCY<br />
|
|
GK1 DEFICIENCY<br />
|
|
HYPERGLYCEROLEMIA
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
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|
|
|
</div>
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|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="phenotypeMap" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/X/146?start=-3&limit=10&highlight=146">
|
|
Xp21.2
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Glycerol kinase deficiency
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/307030"> 307030 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
GK
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300474"> 300474 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/307030" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/307030" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/307030" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
|
|
|
|
|
|
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- 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 />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GROWTH </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Height </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Short stature <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/422065006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">422065006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237836003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237836003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237837007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237837007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E34.31" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E34.31</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R62.52" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R62.52</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/783.43" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">783.43</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0349588&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0349588</a>, <a href="https://bioportal.bioontology.org/search?q=C0013336&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013336</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003510</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0004322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004322</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004322</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Other </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Small for gestational age <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/267258002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">267258002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0235991&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0235991</a>, <a href="https://bioportal.bioontology.org/search?q=C0302511&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0302511</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001518" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001518</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001518" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001518</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Face </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Mild facial dysmorphism may occur <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855390&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855390</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/248200007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">248200007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398302004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398302004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/32003007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">32003007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398206004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398206004</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001999" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001999</a>]</span><br /> -
|
|
'Hourglass' midface <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3275563&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3275563</a>]</span><br /> -
|
|
Frontal bossing <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/90145001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">90145001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221354&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221354</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002007</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=3ab8802347404fb5ebf087fa6440bb25" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Frontal_Bossing-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=3ab8802347404fb5ebf087fa6440bb25" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Ears </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Wide, flattened earlobes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3275564&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3275564</a>]</span><br /> -
|
|
Low-set ears <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95515009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95515009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q17.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q17.4</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0239234&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0239234</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000369" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000369</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000369" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000369</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=9f0956aaa4fd45c34f94336afbbdc931" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Ear,Low-Set-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=9f0956aaa4fd45c34f94336afbbdc931" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Eyes </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Strabismus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22066006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22066006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H50.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H50.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H50.40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H50.40</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0038379&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0038379</a>, <a href="https://bioportal.bioontology.org/search?q=C2020541&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2020541</a>, <a href="https://bioportal.bioontology.org/search?q=C1423541&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1423541</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000486" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000486</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000486" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000486</a>]</span><br /> -
|
|
Hypertelorism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22006008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22006008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q75.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q75.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/376.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">376.41</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020534&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020534</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000316" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000316</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000316" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000316</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=593a4d488f00bb03351a0ddffaf4ac9a" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Eyes,Widely_Spaced-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=593a4d488f00bb03351a0ddffaf4ac9a" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
|
|
Rounded palpebral fissures <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3275565&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3275565</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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<span class="h5 mim-font">
|
|
<em> Mouth </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
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|
|
- Downturned mouth <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1866195&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1866195</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002714" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002714</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002714" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002714</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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<div>
|
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<span class="h5 mim-font">
|
|
<strong> GENITOURINARY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<em> Internal Genitalia (Male) </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Cryptorchidism may occur <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3275562&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3275562</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204878001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204878001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q53.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q53.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/752.51" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">752.51</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000028" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000028</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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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKELETAL </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Osteoporosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/64859006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">64859006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Z82.62" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Z82.62</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M81.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M81.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/733.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">733.0</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/V17.81" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">V17.81</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/733.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">733.00</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2911643&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2911643</a>, <a href="https://bioportal.bioontology.org/search?q=C0029456&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0029456</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000939" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000939</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000939" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000939</a>]</span><br />
|
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|
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</span>
|
|
</div>
|
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|
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</div>
|
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|
|
</div>
|
|
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|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MUSCLE, SOFT TISSUES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Duchenne muscular dystrophy (DMD, <a href="/entry/310200">310200</a>) in 'complex' form<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> NEUROLOGIC </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Central Nervous System </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Mental retardation may occur <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3275560&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3275560</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/228156007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">228156007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/110359009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">110359009</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/317-319.99" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">317-319.99</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001249" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001249</a>]</span><br /> -
|
|
Psychomotor retardation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398991009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398991009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1144814003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1144814003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0424230&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0424230</a>, <a href="https://bioportal.bioontology.org/search?q=C5441816&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5441816</a>]</span><br /> -
|
|
Seizures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/91175000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">91175000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0036572&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0036572</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001250</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001250</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> METABOLIC FEATURES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Lethargy or loss of consciousness during illness or fasting <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3275573&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3275573</a>]</span><br /> -
|
|
Metabolic acidosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/59455009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">59455009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E87.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E87.20</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0220981&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0220981</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001942" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001942</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001942" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001942</a>]</span><br /> -
|
|
Ketoacidosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/56051008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">56051008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0220982&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0220982</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001993" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001993</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001993" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001993</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> ENDOCRINE FEATURES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Adrenal insufficiency, congenital (<a href="/entry/300200">300200</a>) in 'complex' form<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> LABORATORY ABNORMALITIES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
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- Increased urinary glycerol <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2673558&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2673558</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0040301" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0040301</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0040301" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0040301</a>]</span><br /> -
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Hypoglycemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237630007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237630007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/271327008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">271327008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/302866003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">302866003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1179458001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1179458001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E16.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E16.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/251.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">251.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020615&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020615</a>, <a href="https://bioportal.bioontology.org/search?q=C5767385&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5767385</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001943" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001943</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001943" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001943</a>]</span><br /> -
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Pseudohypertriglyceridemia in adult form <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3275568&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3275568</a>]</span><br />
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- Variable clinical phenotype<br /> -
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Infantile form (gene deletion 'complex' with glycerol kinase deficiency and/or Duchenne muscular dystrophy and/or congenital adrenal hypoplasia)<br /> -
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Juvenile and adult forms are isolated glycerol kinase deficiency<br /> -
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- Caused by mutation in the glycerol kinase gene (GK, <a href="/entry/300474">300474</a>)<br />
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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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<p>A number sign (#) is used with this entry because glycerol kinase deficiency (GKD) is caused by mutation in the GK gene (<a href="/entry/300474">300474</a>) on chromosome Xp21.</p>
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<p><a href="#3" class="mim-tip-reference" title="Francke, U., Harper, J. F., Darras, B. T., Cowan, J. M., McCabe, E. R. B., Kohlschutter, A., Seltzer, W. K., Saito, F., Goto, J., Harpey, J.-P., Wise, J. E. <strong>Congenital adrenal hypoplasia, myopathy, and glycerol kinase deficiency: molecular genetic evidence for deletions.</strong> Am. J. Hum. Genet. 40: 212-227, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2883886/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2883886</a>]" pmid="2883886">Francke et al. (1987)</a> noted that there are 3 clinically distinct forms of glycerol kinase deficiency: infantile, juvenile, and adult. The infantile form is associated with severe developmental delay, and those with the adult form have no symptoms and are often detected fortuitously. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2883886" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>The infantile form of GK deficiency, or the 'GK complex,' results from the Xp21 contiguous gene deletion syndrome (<a href="/entry/300679">300679</a>) with congenital adrenal hypoplasia (<a href="/entry/300200">300200</a>) and/or Duchenne muscular dystrophy (DMD; <a href="/entry/310200">310200</a>), whereas the juvenile and adult forms have isolated GK deficiency (<a href="#17" class="mim-tip-reference" title="Walker, A. P., Muscatelli, F., Stafford, A. N., Chelly, J., Dahl, N., Blomquist, H. K., Delanghe, J., Willems, P. J., Steinmann, B., Monaco, A. P. <strong>Mutations and phenotype in isolated glycerol kinase deficiency.</strong> Am. J. Hum. Genet. 58: 1205-1211, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8651297/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8651297</a>]" pmid="8651297">Walker et al., 1996</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8651297" 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 a 70-year-old mildly diabetic man, <a href="#13" class="mim-tip-reference" title="Rose, C. I., Haines, D. S. M. <strong>Familial hyperglycerolemia.</strong> J. Clin. Invest. 61: 163-170, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/618910/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">618910</a>] [<a href="https://doi.org/10.1172/JCI108914" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="618910">Rose and Haines (1978)</a> found an elevated level of serum-free glycerol (about 75 mg per dl) and excretion of free glycerol in the urine (about 13 gm per 25 hr). Homogenates of the patient's leukocytes contained negligible activity of ATP:glycerol phosphotransferase. A brother and the son of a daughter of the proband also showed hyperglycerolemia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=618910" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 76-year-old man, <a href="#6" class="mim-tip-reference" title="Goussault, Y., Turpin, E., Neel, D., Dreux, C., Chanu, B., Bakir, R., Rouffy, J. <strong>'Pseudohypertriglyceridemia' caused by hyperglycerolemia due to congenital enzyme deficiency.</strong> Clin. Chim. Acta 123: 269-274, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6288290/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6288290</a>] [<a href="https://doi.org/10.1016/0009-8981(82)90171-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6288290">Goussault et al. (1982)</a> found 'false hypertriglyceridemia' due to a 40-fold increased glycerolemia. Deficiency of glycerol kinase (11% of normal) was found in the leukocytes of the proband, and values of 48% and 100%, respectively, were found in a daughter and sister. Patients with the adult form of glycerol kinase deficiency are usually identified through hyperlipidemia testing. They have pseudotriglyceridemia because the large amount of glycerol in their serum is falsely identified as triglyceride. These adults have no apparent clinical problems. The pedigrees in all reported cases are consistent with X-linked inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6288290" 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="Eriksson, A., Lindstedt, S., Ransnas, L., von Wendt, L. <strong>Deficiency of glycerol kinase (EC 2.7.1.30).</strong> Clin. Chem. 29: 718-722, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6299616/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6299616</a>]" pmid="6299616">Eriksson et al. (1983)</a> reported a 10-year-old boy who had been admitted on several occasions with severe gastroenteritis and metabolic acidosis. He had increased glycerol in the urine and serum. His glycerol kinase activity in leukocytes and cultured fibroblasts was less than 1% of normal. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6299616" 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="Ginns, E. I., Barranger, J. A., McClean, S. W., Sliva, C., Young, R., Schaefer, I., Goodman, S. I., McCabe, E. R. B. <strong>A juvenile form of glycerol kinase deficiency with episodic vomiting, acidemia, and stupor.</strong> J. Pediat. 104: 736-739, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6325658/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6325658</a>] [<a href="https://doi.org/10.1016/s0022-3476(84)80956-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6325658">Ginns et al. (1984)</a> reported 2 boys with juvenile GKD who initially at 4 years of age had episodic vomiting, metabolic acidosis, stupor, and coma. No further episodes of coma occurred in 1 of them after he began a low-fat diet. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6325658" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Grier, R. E., Howell, R. R., Wu, D., McCabe, E. R. B. <strong>Isolated glycerol kinase deficiency: nutritional and molecular genetic studies. (Abstract)</strong> Am. J. Hum. Genet. 45 (suppl.): A6 only, 1989."None>Grier et al. (1989)</a> described biochemical, clinical, and molecular genetic studies in a patient with isolated glycerol kinase deficiency. A low-fat diet resulted in dramatic clinical and developmental improvement. Molecular genetic studies with conventional Southern blot and PCR analyses showed no evidence of deletion.</p><p><a href="#16" class="mim-tip-reference" title="Sjarif, D. R., Sinke, R. J., Duran, M., Beemer, F. A., Kleijer, W. J., Ploos van Amstel, J. K., Poll-The, B. T. <strong>Clinical heterogeneity and novel mutations in the glycerol kinase gene in three families with isolated glycerol kinase deficiency.</strong> J. Med. Genet. 35: 650-656, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9719371/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9719371</a>] [<a href="https://doi.org/10.1136/jmg.35.8.650" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9719371">Sjarif et al. (1998)</a> studied 8 males from 3 families with isolated glycerol kinase deficiency. All except 1 had onset in the neonatal period or in early childhood. Four patients from 2 families were free of symptoms, 3 patients had gastrointestinal symptoms with ketoacidosis or hypoglycemia or both, and 1 patient had recurrent convulsions as the only acute sign, without evidence that it was correlated with a catabolic state. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9719371" 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="#15" class="mim-tip-reference" title="Sjarif, D. R., Ploos van Amstel, J. K., Duran, M., Beemer, F. A., Poll-The, B. T. <strong>Isolated and contiguous glycerol kinase gene disorders: a review.</strong> J. Inherit. Metab. Dis. 23: 529-547, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11032329/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11032329</a>] [<a href="https://doi.org/10.1023/a:1005660826652" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11032329">Sjarif et al. (2000)</a> reviewed isolated and contiguous glycerol kinase gene disorders. Thirty-eight patients from 24 families with isolated GKD had been reported. At least 7 of these patients had a metabolic crisis during a catabolic condition. Approximately 100 patients from 78 families had a complex GKD disorder involving either GKD and adrenal hypoplasia congenita or Duchenne muscular dystrophy or both. <a href="#15" class="mim-tip-reference" title="Sjarif, D. R., Ploos van Amstel, J. K., Duran, M., Beemer, F. A., Poll-The, B. T. <strong>Isolated and contiguous glycerol kinase gene disorders: a review.</strong> J. Inherit. Metab. Dis. 23: 529-547, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11032329/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11032329</a>] [<a href="https://doi.org/10.1023/a:1005660826652" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11032329">Sjarif et al. (2000)</a> presented a diagnostic algorithm for GKD. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11032329" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#9" class="mim-tip-reference" title="Hammond, J., Howard, N. J., Brookwell, R., Purvis-Smith, S., Wilcken, B., Hoogenraad, N. <strong>Proposed assignment of loci for X-linked adrenal hypoplasia and glycerol kinase genes. (Letter)</strong> Lancet 325: 54 only, 1985. Note: Originally Volume I.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2856983/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2856983</a>] [<a href="https://doi.org/10.1016/s0140-6736(85)91009-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2856983">Hammond et al. (1985)</a> suggested that the locus for glycerol kinase and that for X-linked adrenal hypoplasia are in the segment Xp21-p11.2. The suggestion was based on the finding of an interstitial Xp deletion with breakpoints at p11.2 and p21 in the phenotypically normal mother of a male infant who died at 36 hrs of cytomegalic adrenal hypoplasia with glyceroluria. The infant had a liver deficiency of ornithine carbamoyltransferase (OTC; <a href="/entry/300461">300461</a>) as well as hypoglycemia, hyperammonemia, and gross orotic aciduria. The mother showed excessive orotic acid excretion after an orotic-acid-free protein load. Cytogenetic studies in the baby were technically unsatisfactory. Linkage of primary adrenal hypoplasia and glycerol kinase deficiency is supported by description of coincidence of the 2 disorders (<a href="#11" class="mim-tip-reference" title="McCabe, E. R. B., Fennessey, P. V., Guggenheim, M. A., Miles, B. S., Bullen, W. W., Sceats, D. J., Goodman, S. I. <strong>Human glycerol kinase deficiency with hyperglycerolemia and glyceroluria.</strong> Biochem. Biophys. Res. Commun. 78: 1327-1333, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/200232/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">200232</a>] [<a href="https://doi.org/10.1016/0006-291x(77)91437-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="200232">McCabe et al., 1977</a>; <a href="#8" class="mim-tip-reference" title="Guggenheim, M. A., McCabe, E. R. B., Roig, M., Goodman, S. I., Lum, G. M., Bullen, W. W., Ringel, S. P. <strong>Glycerol kinase deficiency with neuromuscular, skeletal, and adrenal abnormalities.</strong> Ann. Neurol. 7: 441-449, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6249182/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6249182</a>] [<a href="https://doi.org/10.1002/ana.410070509" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6249182">Guggenheim et al., 1980</a>; <a href="#1" class="mim-tip-reference" title="Bartley, J. A., Miller, D. K., Hayford, J. T., McCabe, E. R. B. <strong>Concordance of X-linked glycerol kinase deficiency with X-linked congenital adrenal hypoplasia.</strong> Lancet 320: 733-736, 1982. Note: Originally Volume II.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6125810/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6125810</a>] [<a href="https://doi.org/10.1016/s0140-6736(82)90921-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6125810">Bartley et al., 1982</a>; <a href="#10" class="mim-tip-reference" title="McCabe, E. R. B. <strong>Human glycerol kinase deficiency: an inborn error of compartment metabolism.</strong> Biochem. Med. 30: 215-230, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6316939/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6316939</a>] [<a href="https://doi.org/10.1016/0006-2944(83)90088-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6316939">McCabe, 1983</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6125810+6316939+200232+2856983+6249182" 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 4 patients with isolated glycerol kinase deficiency, <a href="#17" class="mim-tip-reference" title="Walker, A. P., Muscatelli, F., Stafford, A. N., Chelly, J., Dahl, N., Blomquist, H. K., Delanghe, J., Willems, P. J., Steinmann, B., Monaco, A. P. <strong>Mutations and phenotype in isolated glycerol kinase deficiency.</strong> Am. J. Hum. Genet. 58: 1205-1211, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8651297/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8651297</a>]" pmid="8651297">Walker et al. (1996)</a> identified 3 different mutations in the GK gene (<a href="/entry/300474#0001">300474.0001</a>-<a href="/entry/300474#0003">300474.0003</a>). The authors noted widely differing phenotypes and suggested ascertainment bias; metabolic or environmental stress as a precipitating factor in revealing GK-related changes, as had previously been described in juvenile GK deficiency; and interactions with functional polymorphisms in other genes that alter the effect of GK deficiency on normal development. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8651297" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In affected members of a family of French Canadian descent, <a href="#4" class="mim-tip-reference" title="Gaudet, D., Arsenault, S., Perusse, L., Vohl, M.-C., St.-Pierre, J., Bergeron, J., Despres, J.-P., Dewar, K., Daly, M. J., Hudson, T., Rioux, J. D. <strong>Glycerol as a correlate of impaired glucose tolerance: dissection of a complex system by use of a simple genetic trait.</strong> Am. J. Hum. Genet. 66: 1558-1568, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10736265/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10736265</a>] [<a href="https://doi.org/10.1086/302903" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10736265">Gaudet et al. (2000)</a> identified a mutation in the GK gene (N288D; <a href="#0008">307030.0008</a>). Although patients with the N288D mutation suffered from severe hyperglycerolemia, they were apparently otherwise healthy. Phenotypic analysis of the family members, however, showed that glycerol levels correlated with impaired glucose metabolism and body fat distribution. They subsequently noted a substantial variation in glycerolemia in subjects of the initial cohort with normal plasma glycerol levels and demonstrated that this variance showed significant family resemblance. These results suggested a potentially important genetic connection between fasting glycerolemia and glucose homeostasis, not only in this X-linked deficiency but, potentially, in individuals within the 'normal' range of plasma glycerol concentrations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10736265" 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>Because the relationship between glycerol and the risk of impaired glucose tolerance was poorly understood, <a href="#4" class="mim-tip-reference" title="Gaudet, D., Arsenault, S., Perusse, L., Vohl, M.-C., St.-Pierre, J., Bergeron, J., Despres, J.-P., Dewar, K., Daly, M. J., Hudson, T., Rioux, J. D. <strong>Glycerol as a correlate of impaired glucose tolerance: dissection of a complex system by use of a simple genetic trait.</strong> Am. J. Hum. Genet. 66: 1558-1568, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10736265/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10736265</a>] [<a href="https://doi.org/10.1086/302903" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10736265">Gaudet et al. (2000)</a> undertook a study of fasting plasma glycerol levels in a cohort of 1,056 unrelated men and women of French Canadian descent. Family screening in the initial cohort identified 18 men from 5 families with severe hyperglycerolemia (values above 2.0 mmol/l) and demonstrated an X-linked pattern of inheritance. Linkage analysis of the data from 12 microsatellite markers surrounding the Xp21.3 GK gene resulted in a peak lod score of 3.46, centered around marker DXS8039. In addition, since all of the families originated in a population with a proven founder effect (the Saguenay-Lac-Saint-Jean region of Quebec), a common disease haplotype was sought. Indeed, a 6-marker haplotype extending over a region of 5.5 cM was observed in all families. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10736265" 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>Using microarray analysis, <a href="#12" class="mim-tip-reference" title="Rahib, L., MacLennan, N. K., Horvath, S., Liao, J. C., Dipple, K. M. <strong>Glycerol kinase deficiency alters expression of genes involved in lipid metabolism, carbohydrate metabolism, and insulin signaling.</strong> Europ. J. Hum. Genet. 15: 646-657, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17406644/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17406644</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5201801" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17406644">Rahib et al. (2007)</a> examined global gene expression profiles of GK-null and wildtype mice and detected 668 differentially expressed genes, including genes involved in lipid metabolism, carbohydrate metabolism, insulin signaling, and insulin resistance. The authors suggested that glycerol kinase deficiency may play a role in insulin resistance and type 2 diabetes mellitus (<a href="/entry/125853">125853</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17406644" 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>Investigations of glycerol kinase deficiency by <a href="#14" class="mim-tip-reference" title="Seltzer, W. K., Firminger, H., Klein, J., Pike, A., Fennessey, P., McCabe, E. R. B. <strong>Adrenal dysfunction in glycerol kinase deficiency.</strong> Biochem. Med. 33: 189-199, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2988520/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2988520</a>] [<a href="https://doi.org/10.1016/0006-2944(85)90027-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2988520">Seltzer et al. (1985)</a> suggested that primary adrenal hypoplasia seen in association with glycerol kinase deficiency in cases of Xp deletion is not due to loss of a separate (closely linked) locus but rather is a pleiotropic effect of the glycerol kinase deficiency. In the infantile form of GK deficiency, adrenocortical hypoplasia with insufficiency was a consistent feature (in 12 patients in 6 families). <a href="#14" class="mim-tip-reference" title="Seltzer, W. K., Firminger, H., Klein, J., Pike, A., Fennessey, P., McCabe, E. R. B. <strong>Adrenal dysfunction in glycerol kinase deficiency.</strong> Biochem. Med. 33: 189-199, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2988520/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2988520</a>] [<a href="https://doi.org/10.1016/0006-2944(85)90027-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2988520">Seltzer et al. (1985)</a> proposed that deficiency of outer mitochondrial membrane-bound GK restricts glycerophospholipid synthesis and hence the activation of steroidogenesis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2988520" 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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Bartley, J. A., Miller, D. K., Hayford, J. T., McCabe, E. R. B.
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<strong>Concordance of X-linked glycerol kinase deficiency with X-linked congenital adrenal hypoplasia.</strong>
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Lancet 320: 733-736, 1982. Note: Originally Volume II.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6125810/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6125810</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6125810" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0140-6736(82)90921-7" target="_blank">Full Text</a>]
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Eriksson, A., Lindstedt, S., Ransnas, L., von Wendt, L.
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<strong>Deficiency of glycerol kinase (EC 2.7.1.30).</strong>
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Clin. Chem. 29: 718-722, 1983.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6299616/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6299616</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6299616" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Francke, U., Harper, J. F., Darras, B. T., Cowan, J. M., McCabe, E. R. B., Kohlschutter, A., Seltzer, W. K., Saito, F., Goto, J., Harpey, J.-P., Wise, J. E.
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<strong>Congenital adrenal hypoplasia, myopathy, and glycerol kinase deficiency: molecular genetic evidence for deletions.</strong>
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Am. J. Hum. Genet. 40: 212-227, 1987.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2883886/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2883886</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2883886" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Gaudet, D., Arsenault, S., Perusse, L., Vohl, M.-C., St.-Pierre, J., Bergeron, J., Despres, J.-P., Dewar, K., Daly, M. J., Hudson, T., Rioux, J. D.
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<strong>Glycerol as a correlate of impaired glucose tolerance: dissection of a complex system by use of a simple genetic trait.</strong>
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Am. J. Hum. Genet. 66: 1558-1568, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10736265/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10736265</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10736265" 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/10.1086/302903" target="_blank">Full Text</a>]
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Ginns, E. I., Barranger, J. A., McClean, S. W., Sliva, C., Young, R., Schaefer, I., Goodman, S. I., McCabe, E. R. B.
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<strong>A juvenile form of glycerol kinase deficiency with episodic vomiting, acidemia, and stupor.</strong>
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J. Pediat. 104: 736-739, 1984.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6325658/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6325658</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6325658" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0022-3476(84)80956-7" target="_blank">Full Text</a>]
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Goussault, Y., Turpin, E., Neel, D., Dreux, C., Chanu, B., Bakir, R., Rouffy, J.
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<strong>'Pseudohypertriglyceridemia' caused by hyperglycerolemia due to congenital enzyme deficiency.</strong>
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Clin. Chim. Acta 123: 269-274, 1982.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6288290/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6288290</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6288290" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0009-8981(82)90171-1" target="_blank">Full Text</a>]
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<a id="7" class="mim-anchor"></a>
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<a id="Grier1989" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Grier, R. E., Howell, R. R., Wu, D., McCabe, E. R. B.
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<strong>Isolated glycerol kinase deficiency: nutritional and molecular genetic studies. (Abstract)</strong>
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Am. J. Hum. Genet. 45 (suppl.): A6 only, 1989.
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<a id="8" class="mim-anchor"></a>
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<a id="Guggenheim1980" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Guggenheim, M. A., McCabe, E. R. B., Roig, M., Goodman, S. I., Lum, G. M., Bullen, W. W., Ringel, S. P.
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<strong>Glycerol kinase deficiency with neuromuscular, skeletal, and adrenal abnormalities.</strong>
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Ann. Neurol. 7: 441-449, 1980.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6249182/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6249182</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6249182" 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.410070509" target="_blank">Full Text</a>]
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<a id="9" class="mim-anchor"></a>
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<a id="Hammond1985" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Hammond, J., Howard, N. J., Brookwell, R., Purvis-Smith, S., Wilcken, B., Hoogenraad, N.
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<strong>Proposed assignment of loci for X-linked adrenal hypoplasia and glycerol kinase genes. (Letter)</strong>
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Lancet 325: 54 only, 1985. Note: Originally Volume I.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2856983/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2856983</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2856983" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0140-6736(85)91009-8" target="_blank">Full Text</a>]
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<a id="10" class="mim-anchor"></a>
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<a id="McCabe1983" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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McCabe, E. R. B.
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<strong>Human glycerol kinase deficiency: an inborn error of compartment metabolism.</strong>
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Biochem. Med. 30: 215-230, 1983.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6316939/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6316939</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6316939" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0006-2944(83)90088-1" target="_blank">Full Text</a>]
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<a id="11" class="mim-anchor"></a>
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<a id="McCabe1977" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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McCabe, E. R. B., Fennessey, P. V., Guggenheim, M. A., Miles, B. S., Bullen, W. W., Sceats, D. J., Goodman, S. I.
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<strong>Human glycerol kinase deficiency with hyperglycerolemia and glyceroluria.</strong>
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Biochem. Biophys. Res. Commun. 78: 1327-1333, 1977.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/200232/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">200232</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=200232" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0006-291x(77)91437-1" target="_blank">Full Text</a>]
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<a id="12" class="mim-anchor"></a>
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<a id="Rahib2007" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Rahib, L., MacLennan, N. K., Horvath, S., Liao, J. C., Dipple, K. M.
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<strong>Glycerol kinase deficiency alters expression of genes involved in lipid metabolism, carbohydrate metabolism, and insulin signaling.</strong>
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Europ. J. Hum. Genet. 15: 646-657, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17406644/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17406644</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17406644" 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.5201801" target="_blank">Full Text</a>]
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<a id="13" class="mim-anchor"></a>
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<a id="Rose1978" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Rose, C. I., Haines, D. S. M.
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<strong>Familial hyperglycerolemia.</strong>
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J. Clin. Invest. 61: 163-170, 1978.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/618910/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">618910</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=618910" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1172/JCI108914" target="_blank">Full Text</a>]
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<a id="14" class="mim-anchor"></a>
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<a id="Seltzer1985" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Seltzer, W. K., Firminger, H., Klein, J., Pike, A., Fennessey, P., McCabe, E. R. B.
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<strong>Adrenal dysfunction in glycerol kinase deficiency.</strong>
|
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Biochem. Med. 33: 189-199, 1985.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2988520/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2988520</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2988520" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0006-2944(85)90027-4" target="_blank">Full Text</a>]
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<a id="15" class="mim-anchor"></a>
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<a id="Sjarif2000" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Sjarif, D. R., Ploos van Amstel, J. K., Duran, M., Beemer, F. A., Poll-The, B. T.
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<strong>Isolated and contiguous glycerol kinase gene disorders: a review.</strong>
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J. Inherit. Metab. Dis. 23: 529-547, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11032329/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11032329</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11032329" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1023/a:1005660826652" target="_blank">Full Text</a>]
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<a id="16" class="mim-anchor"></a>
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<a id="Sjarif1998" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Sjarif, D. R., Sinke, R. J., Duran, M., Beemer, F. A., Kleijer, W. J., Ploos van Amstel, J. K., Poll-The, B. T.
|
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<strong>Clinical heterogeneity and novel mutations in the glycerol kinase gene in three families with isolated glycerol kinase deficiency.</strong>
|
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J. Med. Genet. 35: 650-656, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9719371/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9719371</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9719371" 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/10.1136/jmg.35.8.650" target="_blank">Full Text</a>]
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<a id="17" class="mim-anchor"></a>
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<a id="Walker1996" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Walker, A. P., Muscatelli, F., Stafford, A. N., Chelly, J., Dahl, N., Blomquist, H. K., Delanghe, J., Willems, P. J., Steinmann, B., Monaco, A. P.
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<strong>Mutations and phenotype in isolated glycerol kinase deficiency.</strong>
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Am. J. Hum. Genet. 58: 1205-1211, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8651297/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8651297</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8651297" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</ol>
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<br />
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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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</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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Marla J. F. O'Neill - updated : 7/18/2008
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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 - reorganized : 2/20/2004<br>Victor A. McKusick - updated : 8/30/2001<br>Michael J. Wright - updated : 7/23/2001<br>Ada Hamosh - updated : 10/31/2000<br>Victor A. McKusick - updated : 5/16/2000<br>Victor A. McKusick - updated : 4/19/2000<br>Ada Hamosh - updated : 3/14/2000<br>Victor A. McKusick - updated : 12/21/1999<br>Michael J. Wright - updated : 11/16/1998
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<a id="creationDate" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/4/1986
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 07/28/2015
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<span class="mim-text-font">
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carol : 2/21/2014<br>terry : 10/26/2011<br>carol : 6/29/2010<br>carol : 6/14/2010<br>terry : 3/31/2009<br>wwang : 7/21/2008<br>terry : 7/18/2008<br>terry : 4/21/2005<br>carol : 3/9/2005<br>carol : 2/20/2004<br>carol : 2/20/2004<br>ckniffin : 2/5/2004<br>carol : 4/25/2002<br>alopez : 3/13/2002<br>mcapotos : 9/17/2001<br>mcapotos : 8/30/2001<br>alopez : 7/27/2001<br>terry : 7/23/2001<br>mgross : 11/2/2000<br>terry : 10/31/2000<br>mcapotos : 5/31/2000<br>mcapotos : 5/17/2000<br>terry : 5/16/2000<br>terry : 4/19/2000<br>terry : 3/14/2000<br>carol : 1/3/2000<br>terry : 12/21/1999<br>dkim : 12/11/1998<br>alopez : 12/8/1998<br>terry : 11/16/1998<br>dkim : 9/10/1998<br>carol : 7/30/1998<br>terry : 1/6/1997<br>jenny : 12/23/1996<br>terry : 12/18/1996<br>mark : 10/24/1996<br>terry : 10/15/1996<br>mark : 6/9/1995<br>terry : 10/18/1994<br>warfield : 4/20/1994<br>mimadm : 4/13/1994<br>carol : 9/9/1993<br>carol : 3/24/1993
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<span class="mim-font">
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<strong>#</strong> 307030
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<h3>
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GLYCEROL KINASE DEFICIENCY; GKD
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<em>Alternative titles; symbols</em>
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<h4>
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<span class="mim-font">
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GK DEFICIENCY<br />
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GK1 DEFICIENCY<br />
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HYPERGLYCEROLEMIA
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</h4>
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<strong>SNOMEDCT:</strong> 124322002;
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<strong>ORPHA:</strong> 284411, 284414, 408;
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<strong>DO:</strong> 0060363;
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<div>
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<h4>
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<span class="mim-font">
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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Xp21.2
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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Glycerol kinase deficiency
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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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307030
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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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X-linked recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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<td>
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<span class="mim-font">
|
|
GK
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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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300474
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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>
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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>TEXT</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because glycerol kinase deficiency (GKD) is caused by mutation in the GK gene (300474) on chromosome Xp21.</p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Francke et al. (1987) noted that there are 3 clinically distinct forms of glycerol kinase deficiency: infantile, juvenile, and adult. The infantile form is associated with severe developmental delay, and those with the adult form have no symptoms and are often detected fortuitously. </p><p>The infantile form of GK deficiency, or the 'GK complex,' results from the Xp21 contiguous gene deletion syndrome (300679) with congenital adrenal hypoplasia (300200) and/or Duchenne muscular dystrophy (DMD; 310200), whereas the juvenile and adult forms have isolated GK deficiency (Walker et al., 1996). </p>
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</span>
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<div>
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<br />
|
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>Clinical Features</strong>
|
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
|
|
<p>In a 70-year-old mildly diabetic man, Rose and Haines (1978) found an elevated level of serum-free glycerol (about 75 mg per dl) and excretion of free glycerol in the urine (about 13 gm per 25 hr). Homogenates of the patient's leukocytes contained negligible activity of ATP:glycerol phosphotransferase. A brother and the son of a daughter of the proband also showed hyperglycerolemia. </p><p>In a 76-year-old man, Goussault et al. (1982) found 'false hypertriglyceridemia' due to a 40-fold increased glycerolemia. Deficiency of glycerol kinase (11% of normal) was found in the leukocytes of the proband, and values of 48% and 100%, respectively, were found in a daughter and sister. Patients with the adult form of glycerol kinase deficiency are usually identified through hyperlipidemia testing. They have pseudotriglyceridemia because the large amount of glycerol in their serum is falsely identified as triglyceride. These adults have no apparent clinical problems. The pedigrees in all reported cases are consistent with X-linked inheritance. </p><p>Eriksson et al. (1983) reported a 10-year-old boy who had been admitted on several occasions with severe gastroenteritis and metabolic acidosis. He had increased glycerol in the urine and serum. His glycerol kinase activity in leukocytes and cultured fibroblasts was less than 1% of normal. </p><p>Ginns et al. (1984) reported 2 boys with juvenile GKD who initially at 4 years of age had episodic vomiting, metabolic acidosis, stupor, and coma. No further episodes of coma occurred in 1 of them after he began a low-fat diet. </p><p>Grier et al. (1989) described biochemical, clinical, and molecular genetic studies in a patient with isolated glycerol kinase deficiency. A low-fat diet resulted in dramatic clinical and developmental improvement. Molecular genetic studies with conventional Southern blot and PCR analyses showed no evidence of deletion.</p><p>Sjarif et al. (1998) studied 8 males from 3 families with isolated glycerol kinase deficiency. All except 1 had onset in the neonatal period or in early childhood. Four patients from 2 families were free of symptoms, 3 patients had gastrointestinal symptoms with ketoacidosis or hypoglycemia or both, and 1 patient had recurrent convulsions as the only acute sign, without evidence that it was correlated with a catabolic state. </p><p>Sjarif et al. (2000) reviewed isolated and contiguous glycerol kinase gene disorders. Thirty-eight patients from 24 families with isolated GKD had been reported. At least 7 of these patients had a metabolic crisis during a catabolic condition. Approximately 100 patients from 78 families had a complex GKD disorder involving either GKD and adrenal hypoplasia congenita or Duchenne muscular dystrophy or both. Sjarif et al. (2000) presented a diagnostic algorithm for GKD. </p>
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</span>
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<div>
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<br />
|
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</div>
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<div>
|
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<h4>
|
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<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
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<span class="mim-text-font">
|
|
<p>Hammond et al. (1985) suggested that the locus for glycerol kinase and that for X-linked adrenal hypoplasia are in the segment Xp21-p11.2. The suggestion was based on the finding of an interstitial Xp deletion with breakpoints at p11.2 and p21 in the phenotypically normal mother of a male infant who died at 36 hrs of cytomegalic adrenal hypoplasia with glyceroluria. The infant had a liver deficiency of ornithine carbamoyltransferase (OTC; 300461) as well as hypoglycemia, hyperammonemia, and gross orotic aciduria. The mother showed excessive orotic acid excretion after an orotic-acid-free protein load. Cytogenetic studies in the baby were technically unsatisfactory. Linkage of primary adrenal hypoplasia and glycerol kinase deficiency is supported by description of coincidence of the 2 disorders (McCabe et al., 1977; Guggenheim et al., 1980; Bartley et al., 1982; McCabe, 1983). </p>
|
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</span>
|
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<div>
|
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<br />
|
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</div>
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|
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|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
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</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>In 4 patients with isolated glycerol kinase deficiency, Walker et al. (1996) identified 3 different mutations in the GK gene (300474.0001-300474.0003). The authors noted widely differing phenotypes and suggested ascertainment bias; metabolic or environmental stress as a precipitating factor in revealing GK-related changes, as had previously been described in juvenile GK deficiency; and interactions with functional polymorphisms in other genes that alter the effect of GK deficiency on normal development. </p><p>In affected members of a family of French Canadian descent, Gaudet et al. (2000) identified a mutation in the GK gene (N288D; 307030.0008). Although patients with the N288D mutation suffered from severe hyperglycerolemia, they were apparently otherwise healthy. Phenotypic analysis of the family members, however, showed that glycerol levels correlated with impaired glucose metabolism and body fat distribution. They subsequently noted a substantial variation in glycerolemia in subjects of the initial cohort with normal plasma glycerol levels and demonstrated that this variance showed significant family resemblance. These results suggested a potentially important genetic connection between fasting glycerolemia and glucose homeostasis, not only in this X-linked deficiency but, potentially, in individuals within the 'normal' range of plasma glycerol concentrations. </p><p>Because the relationship between glycerol and the risk of impaired glucose tolerance was poorly understood, Gaudet et al. (2000) undertook a study of fasting plasma glycerol levels in a cohort of 1,056 unrelated men and women of French Canadian descent. Family screening in the initial cohort identified 18 men from 5 families with severe hyperglycerolemia (values above 2.0 mmol/l) and demonstrated an X-linked pattern of inheritance. Linkage analysis of the data from 12 microsatellite markers surrounding the Xp21.3 GK gene resulted in a peak lod score of 3.46, centered around marker DXS8039. In addition, since all of the families originated in a population with a proven founder effect (the Saguenay-Lac-Saint-Jean region of Quebec), a common disease haplotype was sought. Indeed, a 6-marker haplotype extending over a region of 5.5 cM was observed in all families. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Animal Model</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Using microarray analysis, Rahib et al. (2007) examined global gene expression profiles of GK-null and wildtype mice and detected 668 differentially expressed genes, including genes involved in lipid metabolism, carbohydrate metabolism, insulin signaling, and insulin resistance. The authors suggested that glycerol kinase deficiency may play a role in insulin resistance and type 2 diabetes mellitus (125853). </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>History</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Investigations of glycerol kinase deficiency by Seltzer et al. (1985) suggested that primary adrenal hypoplasia seen in association with glycerol kinase deficiency in cases of Xp deletion is not due to loss of a separate (closely linked) locus but rather is a pleiotropic effect of the glycerol kinase deficiency. In the infantile form of GK deficiency, adrenocortical hypoplasia with insufficiency was a consistent feature (in 12 patients in 6 families). Seltzer et al. (1985) proposed that deficiency of outer mitochondrial membrane-bound GK restricts glycerophospholipid synthesis and hence the activation of steroidogenesis. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
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|
</div>
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Bartley, J. A., Miller, D. K., Hayford, J. T., McCabe, E. R. B.
|
|
<strong>Concordance of X-linked glycerol kinase deficiency with X-linked congenital adrenal hypoplasia.</strong>
|
|
Lancet 320: 733-736, 1982. Note: Originally Volume II.
|
|
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|
|
[PubMed: 6125810]
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[Full Text: https://doi.org/10.1016/s0140-6736(82)90921-7]
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</p>
|
|
</li>
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|
|
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<li>
|
|
<p class="mim-text-font">
|
|
Eriksson, A., Lindstedt, S., Ransnas, L., von Wendt, L.
|
|
<strong>Deficiency of glycerol kinase (EC 2.7.1.30).</strong>
|
|
Clin. Chem. 29: 718-722, 1983.
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|
|
[PubMed: 6299616]
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Francke, U., Harper, J. F., Darras, B. T., Cowan, J. M., McCabe, E. R. B., Kohlschutter, A., Seltzer, W. K., Saito, F., Goto, J., Harpey, J.-P., Wise, J. E.
|
|
<strong>Congenital adrenal hypoplasia, myopathy, and glycerol kinase deficiency: molecular genetic evidence for deletions.</strong>
|
|
Am. J. Hum. Genet. 40: 212-227, 1987.
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[PubMed: 2883886]
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Gaudet, D., Arsenault, S., Perusse, L., Vohl, M.-C., St.-Pierre, J., Bergeron, J., Despres, J.-P., Dewar, K., Daly, M. J., Hudson, T., Rioux, J. D.
|
|
<strong>Glycerol as a correlate of impaired glucose tolerance: dissection of a complex system by use of a simple genetic trait.</strong>
|
|
Am. J. Hum. Genet. 66: 1558-1568, 2000.
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[PubMed: 10736265]
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[Full Text: https://doi.org/10.1086/302903]
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Ginns, E. I., Barranger, J. A., McClean, S. W., Sliva, C., Young, R., Schaefer, I., Goodman, S. I., McCabe, E. R. B.
|
|
<strong>A juvenile form of glycerol kinase deficiency with episodic vomiting, acidemia, and stupor.</strong>
|
|
J. Pediat. 104: 736-739, 1984.
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|
[PubMed: 6325658]
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[Full Text: https://doi.org/10.1016/s0022-3476(84)80956-7]
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Goussault, Y., Turpin, E., Neel, D., Dreux, C., Chanu, B., Bakir, R., Rouffy, J.
|
|
<strong>'Pseudohypertriglyceridemia' caused by hyperglycerolemia due to congenital enzyme deficiency.</strong>
|
|
Clin. Chim. Acta 123: 269-274, 1982.
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|
[PubMed: 6288290]
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[Full Text: https://doi.org/10.1016/0009-8981(82)90171-1]
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</p>
|
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</li>
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|
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<li>
|
|
<p class="mim-text-font">
|
|
Grier, R. E., Howell, R. R., Wu, D., McCabe, E. R. B.
|
|
<strong>Isolated glycerol kinase deficiency: nutritional and molecular genetic studies. (Abstract)</strong>
|
|
Am. J. Hum. Genet. 45 (suppl.): A6 only, 1989.
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|
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</p>
|
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</li>
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|
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<li>
|
|
<p class="mim-text-font">
|
|
Guggenheim, M. A., McCabe, E. R. B., Roig, M., Goodman, S. I., Lum, G. M., Bullen, W. W., Ringel, S. P.
|
|
<strong>Glycerol kinase deficiency with neuromuscular, skeletal, and adrenal abnormalities.</strong>
|
|
Ann. Neurol. 7: 441-449, 1980.
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|
|
[PubMed: 6249182]
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|
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[Full Text: https://doi.org/10.1002/ana.410070509]
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</p>
|
|
</li>
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|
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<li>
|
|
<p class="mim-text-font">
|
|
Hammond, J., Howard, N. J., Brookwell, R., Purvis-Smith, S., Wilcken, B., Hoogenraad, N.
|
|
<strong>Proposed assignment of loci for X-linked adrenal hypoplasia and glycerol kinase genes. (Letter)</strong>
|
|
Lancet 325: 54 only, 1985. Note: Originally Volume I.
|
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|
|
[PubMed: 2856983]
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|
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[Full Text: https://doi.org/10.1016/s0140-6736(85)91009-8]
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</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
McCabe, E. R. B.
|
|
<strong>Human glycerol kinase deficiency: an inborn error of compartment metabolism.</strong>
|
|
Biochem. Med. 30: 215-230, 1983.
|
|
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|
|
[PubMed: 6316939]
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|
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[Full Text: https://doi.org/10.1016/0006-2944(83)90088-1]
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|
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</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
McCabe, E. R. B., Fennessey, P. V., Guggenheim, M. A., Miles, B. S., Bullen, W. W., Sceats, D. J., Goodman, S. I.
|
|
<strong>Human glycerol kinase deficiency with hyperglycerolemia and glyceroluria.</strong>
|
|
Biochem. Biophys. Res. Commun. 78: 1327-1333, 1977.
|
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|
|
[PubMed: 200232]
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|
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[Full Text: https://doi.org/10.1016/0006-291x(77)91437-1]
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</p>
|
|
</li>
|
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|
|
<li>
|
|
<p class="mim-text-font">
|
|
Rahib, L., MacLennan, N. K., Horvath, S., Liao, J. C., Dipple, K. M.
|
|
<strong>Glycerol kinase deficiency alters expression of genes involved in lipid metabolism, carbohydrate metabolism, and insulin signaling.</strong>
|
|
Europ. J. Hum. Genet. 15: 646-657, 2007.
|
|
|
|
|
|
[PubMed: 17406644]
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|
|
[Full Text: https://doi.org/10.1038/sj.ejhg.5201801]
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</p>
|
|
</li>
|
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|
|
<li>
|
|
<p class="mim-text-font">
|
|
Rose, C. I., Haines, D. S. M.
|
|
<strong>Familial hyperglycerolemia.</strong>
|
|
J. Clin. Invest. 61: 163-170, 1978.
|
|
|
|
|
|
[PubMed: 618910]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1172/JCI108914]
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Seltzer, W. K., Firminger, H., Klein, J., Pike, A., Fennessey, P., McCabe, E. R. B.
|
|
<strong>Adrenal dysfunction in glycerol kinase deficiency.</strong>
|
|
Biochem. Med. 33: 189-199, 1985.
|
|
|
|
|
|
[PubMed: 2988520]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0006-2944(85)90027-4]
|
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|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Sjarif, D. R., Ploos van Amstel, J. K., Duran, M., Beemer, F. A., Poll-The, B. T.
|
|
<strong>Isolated and contiguous glycerol kinase gene disorders: a review.</strong>
|
|
J. Inherit. Metab. Dis. 23: 529-547, 2000.
|
|
|
|
|
|
[PubMed: 11032329]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1023/a:1005660826652]
|
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|
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</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Sjarif, D. R., Sinke, R. J., Duran, M., Beemer, F. A., Kleijer, W. J., Ploos van Amstel, J. K., Poll-The, B. T.
|
|
<strong>Clinical heterogeneity and novel mutations in the glycerol kinase gene in three families with isolated glycerol kinase deficiency.</strong>
|
|
J. Med. Genet. 35: 650-656, 1998.
|
|
|
|
|
|
[PubMed: 9719371]
|
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|
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|
|
[Full Text: https://doi.org/10.1136/jmg.35.8.650]
|
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</p>
|
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</li>
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<li>
|
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<p class="mim-text-font">
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Walker, A. P., Muscatelli, F., Stafford, A. N., Chelly, J., Dahl, N., Blomquist, H. K., Delanghe, J., Willems, P. J., Steinmann, B., Monaco, A. P.
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<strong>Mutations and phenotype in isolated glycerol kinase deficiency.</strong>
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Am. J. Hum. Genet. 58: 1205-1211, 1996.
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[PubMed: 8651297]
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Marla J. F. O'Neill - updated : 7/18/2008<br>Cassandra L. Kniffin - reorganized : 2/20/2004<br>Victor A. McKusick - updated : 8/30/2001<br>Michael J. Wright - updated : 7/23/2001<br>Ada Hamosh - updated : 10/31/2000<br>Victor A. McKusick - updated : 5/16/2000<br>Victor A. McKusick - updated : 4/19/2000<br>Ada Hamosh - updated : 3/14/2000<br>Victor A. McKusick - updated : 12/21/1999<br>Michael J. Wright - updated : 11/16/1998
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Victor A. McKusick : 6/4/1986
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