2754 lines
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Entry
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- #601815 - PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY; PHGDHD
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- OMIM
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<p>
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<span class="h4">#601815</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/601815"><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="#clinicalManagement">Clinical Management</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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</a>
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<div style="display: table-cell;">Clinical Resources</div>
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<div><a href="https://clinicaltrials.gov/search?cond=PHOSPHOGLYCERATE DEHYDROGENASE 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=29040&Typ=Pat" title="Serine biosynthesis pathway deficiency, infantile/juvenile form" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Serine biosynthesis pathwa… </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=11377&Typ=Pat" title="3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">3-phosphoglycerate dehydro… </a></div>
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</div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK592681/" 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/9103" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://medlineplus.gov/genetics/condition/phosphoglycerate-dehydrogenase-deficiency" 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=601815[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=583595" title="Serine biosynthesis pathway deficiency, infantile/juvenile form" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Serine biosynthesis pathwa…</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79351" title="3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">3-phosphoglycerate dehydro…</a></div>
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</div>
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<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/4e3d47b5-f413-4563-959f-9f6eebacc1d2/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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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 style="display: table-cell;">Animal Models</div>
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0050722" 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/601815" 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:0050722" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>ORPHA:</strong> 583595, 79351<br />
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<strong>DO:</strong> 0050722<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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601815
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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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PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY; PHGDHD
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</span>
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</h3>
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<div>
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<br />
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<a id="alternativeTitles" class="mim-anchor"></a>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<div>
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<h4>
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<span class="mim-font">
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PHGDH DEFICIENCY
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</h4>
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<br />
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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Location
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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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|
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<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/1/976?start=-3&limit=10&highlight=976">
|
|
1p12
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Phosphoglycerate dehydrogenase deficiency
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601815"> 601815 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
PHGDH
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606879"> 606879 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/601815" 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/601815" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/601815" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
|
|
|
|
|
|
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GROWTH </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Other </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- IUGR <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22033007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22033007</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/764.90" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">764.90</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/764.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">764.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0015934&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0015934</a>, <a href="https://bioportal.bioontology.org/search?q=C1855652&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855652</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001511" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001511</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001511" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001511</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> Head </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Microcephaly, congenital <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1148758003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1148758003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2677180&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2677180</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011451" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011451</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Face </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Sloping forehead <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857679&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857679</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000340" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000340</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000340" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000340</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=55cd7ed83868b07da866b39707988156" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Forehead,Sloping-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=55cd7ed83868b07da866b39707988156" 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 /> -
|
|
Dysmorphic facies, variable <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4015143&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4015143</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>]</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 />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Eyes </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Cataracts, congenital <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/79410001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">79410001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q12.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q12.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/743.30" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">743.30</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0009691&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0009691</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000519" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000519</a>]</span><br /> -
|
|
Nystagmus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/563001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">563001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H55.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H55.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H55.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H55.00</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/379.50" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">379.50</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0028738&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0028738</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000639" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000639</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000639" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000639</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GENITOURINARY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Internal Genitalia (Male) </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Small testes <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/276411001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">276411001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0241355&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0241355</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008734" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008734</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008734" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008734</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKELETAL </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Hands </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Adducted thumbs <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/205273005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">205273005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0431886&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0431886</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001181" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001181</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001181" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001181</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKIN, NAILS, & HAIR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Skin </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Ichthyosiform scaling <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4314244&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4314244</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> NEUROLOGIC </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<div>
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<span class="h5 mim-font">
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<em> Central Nervous System </em>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Impaired intellectual development <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4747273&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4747273</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 /> -
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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 /> -
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Dysmyelination <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857639&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857639</a>]</span><br /> -
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Hypertonia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/56731001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">56731001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/41581000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">41581000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026826&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026826</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001276" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001276</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001276" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001276</a>]</span><br /> -
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Spastic quadriplegia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/192965001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">192965001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0426970&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0426970</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002510</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002510</a>]</span><br /> -
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Cortical atrophy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/278849000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">278849000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4551583&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551583</a>, <a href="https://bioportal.bioontology.org/search?q=C0235946&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0235946</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002120" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002120</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0002059" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002059</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002120" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002120</a>]</span><br /> -
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Hypsarrhythmia or severe multifocal epileptic abnormalities with poor background activity seen on EEG <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5936286&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5936286</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">
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<strong> HEMATOLOGY </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Megaloblastic anemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/53165003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">53165003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D53.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D53.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0002888&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0002888</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001889" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001889</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001889" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001889</a>]</span><br /> -
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Thrombocytopenia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/415116008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">415116008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/302215000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">302215000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D69.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D69.6</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/287.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">287.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0392386&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0392386</a>, <a href="https://bioportal.bioontology.org/search?q=C0040034&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0040034</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001873" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001873</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001873" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001873</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> LABORATORY ABNORMALITIES </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Decrease plasma serine (fasting) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2677181&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2677181</a>]</span><br /> -
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Decreased CSF serine <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2674426&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2674426</a>]</span><br /> -
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Decreased PHGDH activity (fibroblasts) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2677182&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2677182</a>]</span><br /> -
|
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Normal-to-decreased plasma glycine (fasting) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2677183&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2677183</a>]</span><br /> -
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Decreased CSF glycine <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2674427&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2674427</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
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<strong> MOLECULAR BASIS </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Caused by mutation in the phosphoglycerate dehydrogenase gene (PHGDH, <a href="/entry/606879#0001">606879.0001</a>)<br />
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</span>
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</div>
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</div>
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</div>
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<div class="text-right">
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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</div>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</span>
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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 of evidence that phosphoglycerate dehydrogenase deficiency (PHGDHD) is caused by homozygous or compound heterozygous mutation in the PHGDH gene (<a href="/entry/606879">606879</a>) on chromosome 1p12.</p><p>See also Neu-Laxova syndrome (NLS1; <a href="/entry/256520">256520</a>), an allelic disorder with a more severe phenotype that usually results in neonatal death.</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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<a id="description" class="mim-anchor"></a>
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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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 id="mimDescriptionFold" class="collapse in ">
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<span class="mim-text-font">
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<p>Phosphoglycerate dehydrogenase deficiency (PHGDHD) is an autosomal recessive inborn error of L-serine biosynthesis that is characterized by congenital microcephaly, psychomotor retardation, and seizures (summary by <a href="#8" class="mim-tip-reference" title="Jaeken, J., Detheux, M., Van Maldergem, L., Foulon, M., Carchon, H., Van Schaftingen, E. <strong>3-Phosphoglycerate dehydrogenase deficiency: an inborn error of serine biosynthesis.</strong> Arch. Dis. Child. 74: 542-545, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8758134/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8758134</a>] [<a href="https://doi.org/10.1136/adc.74.6.542" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8758134">Jaeken et al., 1996</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8758134" 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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<div>
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<br />
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<a id="clinicalFeatures" class="mim-anchor"></a>
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<h4 href="#mimClinicalFeaturesFold" id="mimClinicalFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimClinicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p><a href="#8" class="mim-tip-reference" title="Jaeken, J., Detheux, M., Van Maldergem, L., Foulon, M., Carchon, H., Van Schaftingen, E. <strong>3-Phosphoglycerate dehydrogenase deficiency: an inborn error of serine biosynthesis.</strong> Arch. Dis. Child. 74: 542-545, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8758134/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8758134</a>] [<a href="https://doi.org/10.1136/adc.74.6.542" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8758134">Jaeken et al. (1996)</a> described the clinical and biochemical features of 2 Turkish brothers who had a defect in the first enzyme of serine biosynthesis (phosphoglycerate dehydrogenase). The sibs were born from a first-cousin union. The authors noted that serine cerebrospinal fluid (CSF) concentrations were markedly decreased, as were, to a lesser extent, glycine levels. Both sibs exhibited postnatal growth retardation, congenital microcephaly, hypogonadism, and hypertonia, and later showed profound psychomotor retardation and epilepsy. Magnetic resonance imaging of the brain showed evidence of 'dysmyelination.' Symmetric growth retardation at birth and bilateral congenital cataracts were present in 1 brother. Notably, plasma serine and glycine values were occasionally in the normal value range, as were urine organic acids and amino acids. Ophthalmologic examination of the second brother was normal. Decreased activity of phosphoglycerate dehydrogenase in fibroblasts was noted in both sibs (22% and 13% when compared to controls). Neither the parents nor the normal sibs were tested. <a href="#8" class="mim-tip-reference" title="Jaeken, J., Detheux, M., Van Maldergem, L., Foulon, M., Carchon, H., Van Schaftingen, E. <strong>3-Phosphoglycerate dehydrogenase deficiency: an inborn error of serine biosynthesis.</strong> Arch. Dis. Child. 74: 542-545, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8758134/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8758134</a>] [<a href="https://doi.org/10.1136/adc.74.6.542" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8758134">Jaeken et al. (1996)</a> noted that although serine is a nonessential amino acid, as it can be synthesized de novo from phosphoglycerate as well as glycine, it appears essential for normal brain function as it plays a role in the biosynthetic reactions of brain constituents such as protein, glycine, cysteine, serine phospholipids, sphingomyelins, and cerebrosides. The authors compared this enzyme deficiency to other 'anabolic' aminoacidopathies such as arginase deficiency (<a href="/entry/207800">207800</a>) in the urea cycle, homocysteinemia, and phenylketonuria (<a href="/entry/261600">261600</a>) and contrasted it with the more common 'catabolic' defects of amino acid metabolism. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8758134" 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="El-Hattab, A. W., Shaheen, R., Hertecant, J., Galadari, H. I., Albaqawi, B. S., Nabil, A., Alkuraya, F. S. <strong>On the phenotypic spectrum of serine biosynthesis.</strong> J. Inherit. Metab. Dis. 39: 373-381, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26960553/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26960553</a>] [<a href="https://doi.org/10.1007/s10545-016-9921-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26960553">El-Hattab et al. (2016)</a> described a 2-month-old male infant with intrauterine growth retardation, generalized ichthyotic skin lesions, microcephaly, and distinctive facial features including hypertelorism, depressed nasal bridge, and micrognathia. He developed poor feeding and anemia requiring blood transfusion. He had low serine and glycine in plasma and CSF. <a href="#1" class="mim-tip-reference" title="Benke, P. J., Hidalgo, R. J., Braffman, B. H., Jans, J., van Gassen, K. L. I., Sunbul, R., El-Hattab, A. W. <strong>Infantile serine biosynthesis defect due to phosphoglycerate dehydrogenase deficiency: variability in phenotype and treatment response, novel mutations, and diagnostic challenges.</strong> J. Child Neurol. 32: 543-549, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28135894/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28135894</a>] [<a href="https://doi.org/10.1177/0883073817690094" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28135894">Benke et al. (2017)</a> reported that this patient had severe developmental delay and spasticity and that serine supplementation resulted in no improvement in development. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=26960553+28135894" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Benke, P. J., Hidalgo, R. J., Braffman, B. H., Jans, J., van Gassen, K. L. I., Sunbul, R., El-Hattab, A. W. <strong>Infantile serine biosynthesis defect due to phosphoglycerate dehydrogenase deficiency: variability in phenotype and treatment response, novel mutations, and diagnostic challenges.</strong> J. Child Neurol. 32: 543-549, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28135894/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28135894</a>] [<a href="https://doi.org/10.1177/0883073817690094" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28135894">Benke et al. (2017)</a> reported sibs from 2 unrelated families with PHGDHD. In family 1, 2 sisters had low serine and glycine in CSF and plasma. PHGDH enzyme activity was low in fibroblasts. One sister had severe developmental delay, spasticity, athetosis, cortical blindness, microcephaly, and failure to thrive. Neuroimaging showed small cerebral hemispheres, hypoplasia of the corpus callosum, and hypomyelination. The other sister had severe developmental delay, spasticity, microcephaly, and failure to thrive. Serine supplementation in both sibs resulted in some improvement in spasticity and responsiveness. In family 3, 3 sisters, born to consanguineous Arab parents, were affected. The youngest sib had microcephaly and cataracts at birth. She was able to walk at 2.5 years of age, but lost the ability to walk due to spasticity at age 5 years. She developed seizures at age 2 years. Her plasma serine was low-normal and plasma glycine was normal. The middle sib had microcephaly at birth, and normal development until age 1 year when spasticity was diagnosed. At age 4 years she started having seizures, and learning difficulties were noticed when she started school. At age 8, developmental regression started and she was nonambulatory due to spasticity at age 10. The oldest sister had cataracts and microcephaly at birth and started having seizures at age 6 months. She developed spasticity during the second year of life. At age 12 she became nonambulatory due to spasticity. All 3 sibs were noted to have pleasant personalities. The sibs had improvement in seizures, spasticity, mobility, and speech after supplementation with 400 mg/kg/d of oral serine. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28135894" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Fu, J., Chen, L., Su, T., Xu, S., Liu, Y. <strong>Mild phenotypes of phosphoglycerate dehydrogenase deficiency by a novel mutation of PHGDH gene: case report and literature review.</strong> Int. J. Dev. Neurosci. 83: 44-52, 2023.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/36308023/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">36308023</a>] [<a href="https://doi.org/10.1002/jdn.10236" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="36308023">Fu et al. (2023)</a> reported 2 brothers, born to consanguineous Chinese parents, with PHGDHD. Both had a normal prenatal and perinatal course with no obvious symptoms during the period after birth. The brothers both had microcephaly and seizure onset at age 4 years. EEGs showed multifocal epileptiform discharges in both sibs. Although development was initially normal, cognitive impairment was noted later in childhood. Brain MRI showed widened cerebellar sulci in one boy and slightly enlarged ventricles in the other. Ichthyosiform scaling was seen on the leg of one of the boys. Biochemical analyses done in one of the brothers showed a low serine level and a normal glycine level. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=36308023" 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="Brassier, A., Valayannopoulos, V., Bahi-Buisson, N., Wiame, E., Hubert, L., Boddaert, N., Kaminska, A., Habarou, F., Desguerre, I., Van Schaftingen, E., Ottolenghi, C., de Lonlay, P. <strong>Two new cases of serine deficiency disorders treated with l-serine.</strong> Europ. J. Paediat. Neurol. 20: 53-60, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26610677/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26610677</a>] [<a href="https://doi.org/10.1016/j.ejpn.2015.10.007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26610677">Brassier et al. (2016)</a> reported a boy with a prenatal history of intrauterine growth retardation and progressive microcephaly. Hypertonia was noted at birth. At 10 months of age, he had severe psychomotor retardation and intractable seizures. Brain MRI at 4.5 years of age showed hypomyelination and corpus callosum atrophy. The patient had very low plasma and CSF serine. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26610677" 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="#8" class="mim-tip-reference" title="Jaeken, J., Detheux, M., Van Maldergem, L., Foulon, M., Carchon, H., Van Schaftingen, E. <strong>3-Phosphoglycerate dehydrogenase deficiency: an inborn error of serine biosynthesis.</strong> Arch. Dis. Child. 74: 542-545, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8758134/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8758134</a>] [<a href="https://doi.org/10.1136/adc.74.6.542" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8758134">Jaeken et al. (1996)</a> found that treatment with oral serine significantly increased cerebrospinal fluid serine concentrations in a dose-dependent manner and was coincident with the cessation of seizures (at a dose of 200 mg/kg/day divided into 3 doses) in 1 affected sib. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8758134" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="De Koning, T. J., Duran, M., Van Maldergem, L., Pineda, M., Dorland, L., Gooskens, R., Jaeken, J., Poll-The, B. T. <strong>Congenital microcephaly and seizures due to 3-phosphoglycerate dehydrogenase deficiency: outcome of treatment with amino acids.</strong> J. Inherit. Metab. Dis. 25: 119-125, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12118526/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12118526</a>] [<a href="https://doi.org/10.1023/a:1015624726822" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12118526">De Koning et al. (2002)</a> reported the follow-up data of amino acid therapy in 5 patients with 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency followed for 3 to 7.5 years. Different treatment regimes were used, but a favorable response to amino acids was observed in all patients. A major reduction in seizure frequency occurred in all patients; 2 patients became seizure free. Amino acids were well tolerated, with no adverse effects documented. The progress of psychomotor development was only observed in 1 patient, diagnosed early, and treated with a high dose of L-serine. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12118526" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="de Koning, T. J., Klomp, L. W. J., van Oppen, A. C. C., Beemer, F. A., Dorland, L., van den Berg, I. E. T., Berger, R. <strong>Prenatal and early postnatal treatment in 3-phosphoglycerate-dehydrogenase deficiency. (Letter)</strong> Lancet 364: 2221-2222, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15610810/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15610810</a>] [<a href="https://doi.org/10.1016/S0140-6736(04)17596-X" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15610810">De Koning et al. (2004)</a> reported the prenatal diagnosis of an affected fetus with the V90M mutation (<a href="/entry/606879#0001">606879.0001</a>) in the PHGDH gene. Ultrasound assessment showed a reduction of fetal head circumference in the 75th percentile at 20 weeks' gestation to the 29th percentile at 26 weeks' gestation. L-serine at 190 mg/kg per day in 3 divided doses was given to the mother which resulted in an fetal head circumference increase to the 76th percentile at 31 weeks' gestation. At birth, the girl's head circumference was normal. Within 12 hours after birth, the serine concentration in plasma dropped to a severely deficient value of 33 micromol/l, and serine was also depleted in cerebrospinal fluid. MRI was normal, but EEG showed discrete seizure activity. After initiation of L-serine treatment of 400 mg/kg per day, seizure activity diminished to normal within 1 week. At 4 years of age the girl had normal growth and psychomotor development, with follow-up MRI scans at 12 and 14 months showing no brain abnormalities. Since the consanguineous couple had 2 severely affected children born with congenital microcephaly prior to this child, <a href="#4" class="mim-tip-reference" title="de Koning, T. J., Klomp, L. W. J., van Oppen, A. C. C., Beemer, F. A., Dorland, L., van den Berg, I. E. T., Berger, R. <strong>Prenatal and early postnatal treatment in 3-phosphoglycerate-dehydrogenase deficiency. (Letter)</strong> Lancet 364: 2221-2222, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15610810/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15610810</a>] [<a href="https://doi.org/10.1016/S0140-6736(04)17596-X" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15610810">de Koning et al. (2004)</a> concluded that PHGDH deficiency is an inborn metabolic error that can be successfully treated antenatally. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15610810" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Benke, P. J., Hidalgo, R. J., Braffman, B. H., Jans, J., van Gassen, K. L. I., Sunbul, R., El-Hattab, A. W. <strong>Infantile serine biosynthesis defect due to phosphoglycerate dehydrogenase deficiency: variability in phenotype and treatment response, novel mutations, and diagnostic challenges.</strong> J. Child Neurol. 32: 543-549, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28135894/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28135894</a>] [<a href="https://doi.org/10.1177/0883073817690094" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28135894">Benke et al. (2017)</a> reported the outcome of treatment with oral serine and oral glycine in the patients they reported with PGDHD. In 8- and 4-year-old sisters (family 1), treatment with serine 500 mg/kg/d and glycine 250 mg/kg/d normalized serine and glycine levels in the CSF. Both sibs had some improvement in spasticity and responsiveness, but no change in developmental progress. In a 6-month-old male infant (family 2), previously reported by <a href="#5" class="mim-tip-reference" title="El-Hattab, A. W., Shaheen, R., Hertecant, J., Galadari, H. I., Albaqawi, B. S., Nabil, A., Alkuraya, F. S. <strong>On the phenotypic spectrum of serine biosynthesis.</strong> J. Inherit. Metab. Dis. 39: 373-381, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26960553/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26960553</a>] [<a href="https://doi.org/10.1007/s10545-016-9921-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26960553">El-Hattab et al. (2016)</a>, who was treated with serine 500 mg/kg/d and glycine 250 mg/kg/day, no improvement in development was observed. In 3 sisters (family 3), aged 13, 19, and 21 years, treatment with serine 400 mg/kg/d resulted in resolution of seizures and improvement in spasticity, ambulation, and verbal communication. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=26960553+28135894" 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>The transmission pattern of PHGDHD in the families reported by <a href="#9" class="mim-tip-reference" title="Klomp, L. W. J., de Koning, T. J., Malingre, H. E. M., van Beurden, E. A. C. M., Brink, M., Opdam, F. L., Duran, M., Jaeken, J., Pineda, M., van Maldergem, L., Poll-The, B. T., van den Berg, I. E. T., Berger, R. <strong>Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency--a neurometabolic disorder associated with reduced L-serine biosynthesis.</strong> Am. J. Hum. Genet. 67: 1389-1399, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11055895/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11055895</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11055895[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/316886" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11055895">Klomp et al. (2000)</a> was consistent with autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11055895" 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>To investigate the molecular basis of PHGDH deficiency, <a href="#9" class="mim-tip-reference" title="Klomp, L. W. J., de Koning, T. J., Malingre, H. E. M., van Beurden, E. A. C. M., Brink, M., Opdam, F. L., Duran, M., Jaeken, J., Pineda, M., van Maldergem, L., Poll-The, B. T., van den Berg, I. E. T., Berger, R. <strong>Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency--a neurometabolic disorder associated with reduced L-serine biosynthesis.</strong> Am. J. Hum. Genet. 67: 1389-1399, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11055895/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11055895</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11055895[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/316886" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11055895">Klomp et al. (2000)</a> characterized the PHGDH mRNA sequence and analyzed it for variations in 6 patients from 4 families with this disorder. Five patients in 3 different families were homozygous for a single nucleotide substitution predicted to change valine at position 490 to methionine (<a href="/entry/606879#0001">606879.0001</a>). The sixth patient was homozygous for a valine-to-methionine substitution at position 425 (<a href="/entry/606879#0002">606879.0002</a>). Both mutations were located in the C terminus of the PHGDH gene. In vitro expression of these mutant proteins resulted in significant reduction of PHGDH enzyme activities. RNA blot analysis indicated abundant expression of PHGDH in adult and fetal brain tissue. Taken together with the severe neurologic impairment in these patients, the data suggested an important role for PHGDH activity and L-serine biosynthesis in the metabolism, development, and function of the central nervous system. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11055895" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 3 Dutch patients, including a brother and sister, and 2 unrelated Turkish patients, who presented with congenital microcephaly, psychomotor retardation, and seizures, <a href="#10" class="mim-tip-reference" title="Tabatabaie, L., de Koning, T. J., Geboers, A. J. J. M., van den Berg, I. E. T., Berger, R., Klomp, L. W. J. <strong>Novel mutations in 3-phosphoglycerate dehydrogenase (PHGDH) are distributed throughout the protein and result in altered enzyme kinetics.</strong> Hum. Mutat. 30: 749-756, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19235232/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19235232</a>] [<a href="https://doi.org/10.1002/humu.20934" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19235232">Tabatabaie et al. (2009)</a> identified compound heterozygosity or homozygosity for 5 mutations in the PHGDH gene, respectively (see, e.g., <a href="/entry/606879#0003">606879.0003</a>-<a href="/entry/606879#0006">606879.0006</a>). Studies in patient fibroblasts, transient overexpression in HEK293 cells, and molecular modeling onto the partial crystal structure of 3-PGDH suggested that missense mutations associated with 3-PGDH deficiency, including the previously identified V490M and V425M substitutions, either primarily affect substrate binding or result in very low residual enzymatic activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19235232" 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 2-month-old boy, born to parents who came from the same area in the United Arab Emirates, with PHGDH deficiency, <a href="#5" class="mim-tip-reference" title="El-Hattab, A. W., Shaheen, R., Hertecant, J., Galadari, H. I., Albaqawi, B. S., Nabil, A., Alkuraya, F. S. <strong>On the phenotypic spectrum of serine biosynthesis.</strong> J. Inherit. Metab. Dis. 39: 373-381, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26960553/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26960553</a>] [<a href="https://doi.org/10.1007/s10545-016-9921-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26960553">El-Hattab et al. (2016)</a> identified a homozygous missense mutation in the PHGDH gene (G429V; <a href="/entry/606879#0011">606879.0011</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26960553" 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 5 members from 2 unrelated families with PHGDHD, <a href="#1" class="mim-tip-reference" title="Benke, P. J., Hidalgo, R. J., Braffman, B. H., Jans, J., van Gassen, K. L. I., Sunbul, R., El-Hattab, A. W. <strong>Infantile serine biosynthesis defect due to phosphoglycerate dehydrogenase deficiency: variability in phenotype and treatment response, novel mutations, and diagnostic challenges.</strong> J. Child Neurol. 32: 543-549, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28135894/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28135894</a>] [<a href="https://doi.org/10.1177/0883073817690094" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28135894">Benke et al. (2017)</a> identified homozygous or compound heterozygous mutations in the PHGDH gene (<a href="/entry/606879#0005">606879.0005</a> and <a href="/entry/606879#0012">606879.0012</a>). Studies in patient fibroblasts showed decreased PHGDH enzyme activity compared to control. Serine and glycine were low in patient plasma and CSF. By metabolomic analysis in plasma from these sisters and the boy previously reported by <a href="#5" class="mim-tip-reference" title="El-Hattab, A. W., Shaheen, R., Hertecant, J., Galadari, H. I., Albaqawi, B. S., Nabil, A., Alkuraya, F. S. <strong>On the phenotypic spectrum of serine biosynthesis.</strong> J. Inherit. Metab. Dis. 39: 373-381, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26960553/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26960553</a>] [<a href="https://doi.org/10.1007/s10545-016-9921-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26960553">El-Hattab et al. (2016)</a>, <a href="#7" class="mim-tip-reference" title="Glinton, K. E., Benke, P. J., Lines, M. A., Geraghty, M. T., Chakraborty, P., Al-Dirbashi, O. Y., Jiang, Y., Kennedy, A. D., Grotewiel, M. S., Sutton, V. R., Elsea, S. H., El-Hattab, A. W. <strong>Disturbed phospholipid metabolism in serine biosynthesis defects revealed by metabolomic profiling.</strong> Molec. Genet. Metab. 123: 309-316, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29269105/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29269105</a>] [<a href="https://doi.org/10.1016/j.ymgme.2017.12.009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29269105">Glinton et al. (2018)</a> found low glycerophospholipids including low phosphatidylcholine, suggesting that PHGDH may play a role in CNS development. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=26960553+28135894+29269105" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 2 brothers, born to consanguineous Chinese parents, with PHGDHD, <a href="#6" class="mim-tip-reference" title="Fu, J., Chen, L., Su, T., Xu, S., Liu, Y. <strong>Mild phenotypes of phosphoglycerate dehydrogenase deficiency by a novel mutation of PHGDH gene: case report and literature review.</strong> Int. J. Dev. Neurosci. 83: 44-52, 2023.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/36308023/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">36308023</a>] [<a href="https://doi.org/10.1002/jdn.10236" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="36308023">Fu et al. (2023)</a> identified homozygosity for a novel missense mutation in the PHGDH regulatory domain (V404D; <a href="/entry/606879#0014">606879.0014</a>). Both parents were heterozygous for the variant, which was confirmed by Sanger sequencing. The variant was not present in the gnomAD and ExAC databases, and was classified as likely pathogenic. The authors reviewed the literature on pathogenic variants in the PHGDH gene; they noted 17 variants, mostly located in the regulatory domain, associated with PHGDHD. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=36308023" 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 boy with PHGDHD, <a href="#2" class="mim-tip-reference" title="Brassier, A., Valayannopoulos, V., Bahi-Buisson, N., Wiame, E., Hubert, L., Boddaert, N., Kaminska, A., Habarou, F., Desguerre, I., Van Schaftingen, E., Ottolenghi, C., de Lonlay, P. <strong>Two new cases of serine deficiency disorders treated with l-serine.</strong> Europ. J. Paediat. Neurol. 20: 53-60, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26610677/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26610677</a>] [<a href="https://doi.org/10.1016/j.ejpn.2015.10.007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26610677">Brassier et al. (2016)</a> identified compound heterozygous mutations in the PHGDH gene (R135W; <a href="/entry/606879#0004">606879.0004</a> and R163W <a href="/entry/606879#0015">606879.0015</a>). The mutations were identified by sequencing of a 3-gene panel associated with serine deficiency. The R135W mutation was inherited from the mother; DNA from the father was not available for testing. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26610677" 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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Benke, P. J., Hidalgo, R. J., Braffman, B. H., Jans, J., van Gassen, K. L. I., Sunbul, R., El-Hattab, A. W.
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<strong>Infantile serine biosynthesis defect due to phosphoglycerate dehydrogenase deficiency: variability in phenotype and treatment response, novel mutations, and diagnostic challenges.</strong>
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J. Child Neurol. 32: 543-549, 2017.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28135894/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28135894</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28135894" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Brassier, A., Valayannopoulos, V., Bahi-Buisson, N., Wiame, E., Hubert, L., Boddaert, N., Kaminska, A., Habarou, F., Desguerre, I., Van Schaftingen, E., Ottolenghi, C., de Lonlay, P.
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<strong>Two new cases of serine deficiency disorders treated with l-serine.</strong>
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Europ. J. Paediat. Neurol. 20: 53-60, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26610677/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26610677</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26610677" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ejpn.2015.10.007" target="_blank">Full Text</a>]
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De Koning, T. J., Duran, M., Van Maldergem, L., Pineda, M., Dorland, L., Gooskens, R., Jaeken, J., Poll-The, B. T.
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<strong>Congenital microcephaly and seizures due to 3-phosphoglycerate dehydrogenase deficiency: outcome of treatment with amino acids.</strong>
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J. Inherit. Metab. Dis. 25: 119-125, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12118526/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12118526</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12118526" 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:1015624726822" target="_blank">Full Text</a>]
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de Koning, T. J., Klomp, L. W. J., van Oppen, A. C. C., Beemer, F. A., Dorland, L., van den Berg, I. E. T., Berger, R.
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<strong>Prenatal and early postnatal treatment in 3-phosphoglycerate-dehydrogenase deficiency. (Letter)</strong>
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Lancet 364: 2221-2222, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15610810/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15610810</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15610810" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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El-Hattab, A. W., Shaheen, R., Hertecant, J., Galadari, H. I., Albaqawi, B. S., Nabil, A., Alkuraya, F. S.
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<strong>On the phenotypic spectrum of serine biosynthesis.</strong>
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J. Inherit. Metab. Dis. 39: 373-381, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26960553/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26960553</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26960553" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<strong>Mild phenotypes of phosphoglycerate dehydrogenase deficiency by a novel mutation of PHGDH gene: case report and literature review.</strong>
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Int. J. Dev. Neurosci. 83: 44-52, 2023.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/36308023/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">36308023</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=36308023" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Glinton, K. E., Benke, P. J., Lines, M. A., Geraghty, M. T., Chakraborty, P., Al-Dirbashi, O. Y., Jiang, Y., Kennedy, A. D., Grotewiel, M. S., Sutton, V. R., Elsea, S. H., El-Hattab, A. W.
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<strong>Disturbed phospholipid metabolism in serine biosynthesis defects revealed by metabolomic profiling.</strong>
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Molec. Genet. Metab. 123: 309-316, 2018.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29269105/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29269105</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29269105" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ymgme.2017.12.009" target="_blank">Full Text</a>]
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Jaeken, J., Detheux, M., Van Maldergem, L., Foulon, M., Carchon, H., Van Schaftingen, E.
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<strong>3-Phosphoglycerate dehydrogenase deficiency: an inborn error of serine biosynthesis.</strong>
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Klomp, L. W. J., de Koning, T. J., Malingre, H. E. M., van Beurden, E. A. C. M., Brink, M., Opdam, F. L., Duran, M., Jaeken, J., Pineda, M., van Maldergem, L., Poll-The, B. T., van den Berg, I. E. T., Berger, R.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11055895/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11055895</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11055895[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11055895" 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/10.1086/316886" target="_blank">Full Text</a>]
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Tabatabaie, L., de Koning, T. J., Geboers, A. J. J. M., van den Berg, I. E. T., Berger, R., Klomp, L. W. J.
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<strong>Novel mutations in 3-phosphoglycerate dehydrogenase (PHGDH) are distributed throughout the protein and result in altered enzyme kinetics.</strong>
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Hum. Mutat. 30: 749-756, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19235232/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19235232</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19235232" 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/humu.20934" target="_blank">Full Text</a>]
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Hilary J. Vernon - updated : 05/14/2024
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Sonja A. Rasmussen - updated : 02/26/2024<br>Hilary J. Vernon - updated : 06/04/2020<br>Marla J. F. O'Neill - updated : 3/5/2010<br>Ada Hamosh - updated : 2/25/2005<br>Ada Hamosh - updated : 10/6/2003<br>Victor A. McKusick - updated : 12/12/2000
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Cynthia K. Ewing : 5/20/1997
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carol : 05/14/2024
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carol : 02/29/2024<br>alopez : 02/26/2024<br>carol : 09/28/2023<br>carol : 06/05/2020<br>carol : 06/04/2020<br>carol : 03/04/2015<br>carol : 6/26/2014<br>ckniffin : 6/23/2014<br>terry : 3/26/2012<br>carol : 5/4/2010<br>wwang : 3/8/2010<br>terry : 3/5/2010<br>wwang : 3/2/2005<br>terry : 2/25/2005<br>carol : 10/31/2003<br>cwells : 10/6/2003<br>carol : 4/24/2002<br>carol : 4/12/2002<br>carol : 4/12/2002<br>mcapotos : 1/29/2001<br>mcapotos : 1/9/2001<br>mcapotos : 1/9/2001<br>mcapotos : 12/27/2000<br>terry : 12/12/2000<br>alopez : 11/17/1999<br>mark : 5/23/1997<br>mark : 5/20/1997
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<strong>#</strong> 601815
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PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY; PHGDHD
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PHGDH DEFICIENCY
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<strong>ORPHA:</strong> 583595, 79351;
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<strong>DO:</strong> 0050722;
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1p12
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Phosphoglycerate dehydrogenase deficiency
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601815
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Autosomal recessive
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3
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PHGDH
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606879
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<p>A number sign (#) is used with this entry because of evidence that phosphoglycerate dehydrogenase deficiency (PHGDHD) is caused by homozygous or compound heterozygous mutation in the PHGDH gene (606879) on chromosome 1p12.</p><p>See also Neu-Laxova syndrome (NLS1; 256520), an allelic disorder with a more severe phenotype that usually results in neonatal death.</p>
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<p>Phosphoglycerate dehydrogenase deficiency (PHGDHD) is an autosomal recessive inborn error of L-serine biosynthesis that is characterized by congenital microcephaly, psychomotor retardation, and seizures (summary by Jaeken et al., 1996). </p>
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<p>Jaeken et al. (1996) described the clinical and biochemical features of 2 Turkish brothers who had a defect in the first enzyme of serine biosynthesis (phosphoglycerate dehydrogenase). The sibs were born from a first-cousin union. The authors noted that serine cerebrospinal fluid (CSF) concentrations were markedly decreased, as were, to a lesser extent, glycine levels. Both sibs exhibited postnatal growth retardation, congenital microcephaly, hypogonadism, and hypertonia, and later showed profound psychomotor retardation and epilepsy. Magnetic resonance imaging of the brain showed evidence of 'dysmyelination.' Symmetric growth retardation at birth and bilateral congenital cataracts were present in 1 brother. Notably, plasma serine and glycine values were occasionally in the normal value range, as were urine organic acids and amino acids. Ophthalmologic examination of the second brother was normal. Decreased activity of phosphoglycerate dehydrogenase in fibroblasts was noted in both sibs (22% and 13% when compared to controls). Neither the parents nor the normal sibs were tested. Jaeken et al. (1996) noted that although serine is a nonessential amino acid, as it can be synthesized de novo from phosphoglycerate as well as glycine, it appears essential for normal brain function as it plays a role in the biosynthetic reactions of brain constituents such as protein, glycine, cysteine, serine phospholipids, sphingomyelins, and cerebrosides. The authors compared this enzyme deficiency to other 'anabolic' aminoacidopathies such as arginase deficiency (207800) in the urea cycle, homocysteinemia, and phenylketonuria (261600) and contrasted it with the more common 'catabolic' defects of amino acid metabolism. </p><p>El-Hattab et al. (2016) described a 2-month-old male infant with intrauterine growth retardation, generalized ichthyotic skin lesions, microcephaly, and distinctive facial features including hypertelorism, depressed nasal bridge, and micrognathia. He developed poor feeding and anemia requiring blood transfusion. He had low serine and glycine in plasma and CSF. Benke et al. (2017) reported that this patient had severe developmental delay and spasticity and that serine supplementation resulted in no improvement in development. </p><p>Benke et al. (2017) reported sibs from 2 unrelated families with PHGDHD. In family 1, 2 sisters had low serine and glycine in CSF and plasma. PHGDH enzyme activity was low in fibroblasts. One sister had severe developmental delay, spasticity, athetosis, cortical blindness, microcephaly, and failure to thrive. Neuroimaging showed small cerebral hemispheres, hypoplasia of the corpus callosum, and hypomyelination. The other sister had severe developmental delay, spasticity, microcephaly, and failure to thrive. Serine supplementation in both sibs resulted in some improvement in spasticity and responsiveness. In family 3, 3 sisters, born to consanguineous Arab parents, were affected. The youngest sib had microcephaly and cataracts at birth. She was able to walk at 2.5 years of age, but lost the ability to walk due to spasticity at age 5 years. She developed seizures at age 2 years. Her plasma serine was low-normal and plasma glycine was normal. The middle sib had microcephaly at birth, and normal development until age 1 year when spasticity was diagnosed. At age 4 years she started having seizures, and learning difficulties were noticed when she started school. At age 8, developmental regression started and she was nonambulatory due to spasticity at age 10. The oldest sister had cataracts and microcephaly at birth and started having seizures at age 6 months. She developed spasticity during the second year of life. At age 12 she became nonambulatory due to spasticity. All 3 sibs were noted to have pleasant personalities. The sibs had improvement in seizures, spasticity, mobility, and speech after supplementation with 400 mg/kg/d of oral serine. </p><p>Fu et al. (2023) reported 2 brothers, born to consanguineous Chinese parents, with PHGDHD. Both had a normal prenatal and perinatal course with no obvious symptoms during the period after birth. The brothers both had microcephaly and seizure onset at age 4 years. EEGs showed multifocal epileptiform discharges in both sibs. Although development was initially normal, cognitive impairment was noted later in childhood. Brain MRI showed widened cerebellar sulci in one boy and slightly enlarged ventricles in the other. Ichthyosiform scaling was seen on the leg of one of the boys. Biochemical analyses done in one of the brothers showed a low serine level and a normal glycine level. </p><p>Brassier et al. (2016) reported a boy with a prenatal history of intrauterine growth retardation and progressive microcephaly. Hypertonia was noted at birth. At 10 months of age, he had severe psychomotor retardation and intractable seizures. Brain MRI at 4.5 years of age showed hypomyelination and corpus callosum atrophy. The patient had very low plasma and CSF serine. </p>
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<strong>Clinical Management</strong>
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<p>Jaeken et al. (1996) found that treatment with oral serine significantly increased cerebrospinal fluid serine concentrations in a dose-dependent manner and was coincident with the cessation of seizures (at a dose of 200 mg/kg/day divided into 3 doses) in 1 affected sib. </p><p>De Koning et al. (2002) reported the follow-up data of amino acid therapy in 5 patients with 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency followed for 3 to 7.5 years. Different treatment regimes were used, but a favorable response to amino acids was observed in all patients. A major reduction in seizure frequency occurred in all patients; 2 patients became seizure free. Amino acids were well tolerated, with no adverse effects documented. The progress of psychomotor development was only observed in 1 patient, diagnosed early, and treated with a high dose of L-serine. </p><p>De Koning et al. (2004) reported the prenatal diagnosis of an affected fetus with the V90M mutation (606879.0001) in the PHGDH gene. Ultrasound assessment showed a reduction of fetal head circumference in the 75th percentile at 20 weeks' gestation to the 29th percentile at 26 weeks' gestation. L-serine at 190 mg/kg per day in 3 divided doses was given to the mother which resulted in an fetal head circumference increase to the 76th percentile at 31 weeks' gestation. At birth, the girl's head circumference was normal. Within 12 hours after birth, the serine concentration in plasma dropped to a severely deficient value of 33 micromol/l, and serine was also depleted in cerebrospinal fluid. MRI was normal, but EEG showed discrete seizure activity. After initiation of L-serine treatment of 400 mg/kg per day, seizure activity diminished to normal within 1 week. At 4 years of age the girl had normal growth and psychomotor development, with follow-up MRI scans at 12 and 14 months showing no brain abnormalities. Since the consanguineous couple had 2 severely affected children born with congenital microcephaly prior to this child, de Koning et al. (2004) concluded that PHGDH deficiency is an inborn metabolic error that can be successfully treated antenatally. </p><p>Benke et al. (2017) reported the outcome of treatment with oral serine and oral glycine in the patients they reported with PGDHD. In 8- and 4-year-old sisters (family 1), treatment with serine 500 mg/kg/d and glycine 250 mg/kg/d normalized serine and glycine levels in the CSF. Both sibs had some improvement in spasticity and responsiveness, but no change in developmental progress. In a 6-month-old male infant (family 2), previously reported by El-Hattab et al. (2016), who was treated with serine 500 mg/kg/d and glycine 250 mg/kg/day, no improvement in development was observed. In 3 sisters (family 3), aged 13, 19, and 21 years, treatment with serine 400 mg/kg/d resulted in resolution of seizures and improvement in spasticity, ambulation, and verbal communication. </p>
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<strong>Inheritance</strong>
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<p>The transmission pattern of PHGDHD in the families reported by Klomp et al. (2000) was consistent with autosomal recessive inheritance. </p>
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<p>To investigate the molecular basis of PHGDH deficiency, Klomp et al. (2000) characterized the PHGDH mRNA sequence and analyzed it for variations in 6 patients from 4 families with this disorder. Five patients in 3 different families were homozygous for a single nucleotide substitution predicted to change valine at position 490 to methionine (606879.0001). The sixth patient was homozygous for a valine-to-methionine substitution at position 425 (606879.0002). Both mutations were located in the C terminus of the PHGDH gene. In vitro expression of these mutant proteins resulted in significant reduction of PHGDH enzyme activities. RNA blot analysis indicated abundant expression of PHGDH in adult and fetal brain tissue. Taken together with the severe neurologic impairment in these patients, the data suggested an important role for PHGDH activity and L-serine biosynthesis in the metabolism, development, and function of the central nervous system. </p><p>In 3 Dutch patients, including a brother and sister, and 2 unrelated Turkish patients, who presented with congenital microcephaly, psychomotor retardation, and seizures, Tabatabaie et al. (2009) identified compound heterozygosity or homozygosity for 5 mutations in the PHGDH gene, respectively (see, e.g., 606879.0003-606879.0006). Studies in patient fibroblasts, transient overexpression in HEK293 cells, and molecular modeling onto the partial crystal structure of 3-PGDH suggested that missense mutations associated with 3-PGDH deficiency, including the previously identified V490M and V425M substitutions, either primarily affect substrate binding or result in very low residual enzymatic activity. </p><p>In a 2-month-old boy, born to parents who came from the same area in the United Arab Emirates, with PHGDH deficiency, El-Hattab et al. (2016) identified a homozygous missense mutation in the PHGDH gene (G429V; 606879.0011). </p><p>In 5 members from 2 unrelated families with PHGDHD, Benke et al. (2017) identified homozygous or compound heterozygous mutations in the PHGDH gene (606879.0005 and 606879.0012). Studies in patient fibroblasts showed decreased PHGDH enzyme activity compared to control. Serine and glycine were low in patient plasma and CSF. By metabolomic analysis in plasma from these sisters and the boy previously reported by El-Hattab et al. (2016), Glinton et al. (2018) found low glycerophospholipids including low phosphatidylcholine, suggesting that PHGDH may play a role in CNS development. </p><p>In 2 brothers, born to consanguineous Chinese parents, with PHGDHD, Fu et al. (2023) identified homozygosity for a novel missense mutation in the PHGDH regulatory domain (V404D; 606879.0014). Both parents were heterozygous for the variant, which was confirmed by Sanger sequencing. The variant was not present in the gnomAD and ExAC databases, and was classified as likely pathogenic. The authors reviewed the literature on pathogenic variants in the PHGDH gene; they noted 17 variants, mostly located in the regulatory domain, associated with PHGDHD. </p><p>In a boy with PHGDHD, Brassier et al. (2016) identified compound heterozygous mutations in the PHGDH gene (R135W; 606879.0004 and R163W 606879.0015). The mutations were identified by sequencing of a 3-gene panel associated with serine deficiency. The R135W mutation was inherited from the mother; DNA from the father was not available for testing. </p>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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Benke, P. J., Hidalgo, R. J., Braffman, B. H., Jans, J., van Gassen, K. L. I., Sunbul, R., El-Hattab, A. W.
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<strong>Infantile serine biosynthesis defect due to phosphoglycerate dehydrogenase deficiency: variability in phenotype and treatment response, novel mutations, and diagnostic challenges.</strong>
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J. Child Neurol. 32: 543-549, 2017.
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[PubMed: 28135894]
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[Full Text: https://doi.org/10.1177/0883073817690094]
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Brassier, A., Valayannopoulos, V., Bahi-Buisson, N., Wiame, E., Hubert, L., Boddaert, N., Kaminska, A., Habarou, F., Desguerre, I., Van Schaftingen, E., Ottolenghi, C., de Lonlay, P.
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<strong>Two new cases of serine deficiency disorders treated with l-serine.</strong>
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Europ. J. Paediat. Neurol. 20: 53-60, 2016.
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[PubMed: 26610677]
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De Koning, T. J., Duran, M., Van Maldergem, L., Pineda, M., Dorland, L., Gooskens, R., Jaeken, J., Poll-The, B. T.
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<strong>Congenital microcephaly and seizures due to 3-phosphoglycerate dehydrogenase deficiency: outcome of treatment with amino acids.</strong>
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J. Inherit. Metab. Dis. 25: 119-125, 2002.
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[PubMed: 12118526]
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[Full Text: https://doi.org/10.1023/a:1015624726822]
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<p class="mim-text-font">
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de Koning, T. J., Klomp, L. W. J., van Oppen, A. C. C., Beemer, F. A., Dorland, L., van den Berg, I. E. T., Berger, R.
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<strong>Prenatal and early postnatal treatment in 3-phosphoglycerate-dehydrogenase deficiency. (Letter)</strong>
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Lancet 364: 2221-2222, 2004.
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[PubMed: 15610810]
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[Full Text: https://doi.org/10.1016/S0140-6736(04)17596-X]
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<p class="mim-text-font">
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El-Hattab, A. W., Shaheen, R., Hertecant, J., Galadari, H. I., Albaqawi, B. S., Nabil, A., Alkuraya, F. S.
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<strong>On the phenotypic spectrum of serine biosynthesis.</strong>
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J. Inherit. Metab. Dis. 39: 373-381, 2016.
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[PubMed: 26960553]
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[Full Text: https://doi.org/10.1007/s10545-016-9921-5]
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<p class="mim-text-font">
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Fu, J., Chen, L., Su, T., Xu, S., Liu, Y.
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<strong>Mild phenotypes of phosphoglycerate dehydrogenase deficiency by a novel mutation of PHGDH gene: case report and literature review.</strong>
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Int. J. Dev. Neurosci. 83: 44-52, 2023.
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[PubMed: 36308023]
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[Full Text: https://doi.org/10.1002/jdn.10236]
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<li>
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<p class="mim-text-font">
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Glinton, K. E., Benke, P. J., Lines, M. A., Geraghty, M. T., Chakraborty, P., Al-Dirbashi, O. Y., Jiang, Y., Kennedy, A. D., Grotewiel, M. S., Sutton, V. R., Elsea, S. H., El-Hattab, A. W.
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<strong>Disturbed phospholipid metabolism in serine biosynthesis defects revealed by metabolomic profiling.</strong>
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Molec. Genet. Metab. 123: 309-316, 2018.
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[PubMed: 29269105]
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[Full Text: https://doi.org/10.1016/j.ymgme.2017.12.009]
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Jaeken, J., Detheux, M., Van Maldergem, L., Foulon, M., Carchon, H., Van Schaftingen, E.
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<strong>3-Phosphoglycerate dehydrogenase deficiency: an inborn error of serine biosynthesis.</strong>
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Arch. Dis. Child. 74: 542-545, 1996.
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[PubMed: 8758134]
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[Full Text: https://doi.org/10.1136/adc.74.6.542]
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Klomp, L. W. J., de Koning, T. J., Malingre, H. E. M., van Beurden, E. A. C. M., Brink, M., Opdam, F. L., Duran, M., Jaeken, J., Pineda, M., van Maldergem, L., Poll-The, B. T., van den Berg, I. E. T., Berger, R.
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<strong>Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency--a neurometabolic disorder associated with reduced L-serine biosynthesis.</strong>
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Am. J. Hum. Genet. 67: 1389-1399, 2000.
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[PubMed: 11055895]
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[Full Text: https://doi.org/10.1086/316886]
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Tabatabaie, L., de Koning, T. J., Geboers, A. J. J. M., van den Berg, I. E. T., Berger, R., Klomp, L. W. J.
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<strong>Novel mutations in 3-phosphoglycerate dehydrogenase (PHGDH) are distributed throughout the protein and result in altered enzyme kinetics.</strong>
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Hum. Mutat. 30: 749-756, 2009.
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[PubMed: 19235232]
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[Full Text: https://doi.org/10.1002/humu.20934]
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Hilary J. Vernon - updated : 05/14/2024<br>Sonja A. Rasmussen - updated : 02/26/2024<br>Hilary J. Vernon - updated : 06/04/2020<br>Marla J. F. O'Neill - updated : 3/5/2010<br>Ada Hamosh - updated : 2/25/2005<br>Ada Hamosh - updated : 10/6/2003<br>Victor A. McKusick - updated : 12/12/2000
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<span class="mim-text-font">
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Cynthia K. Ewing : 5/20/1997
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carol : 05/14/2024<br>carol : 02/29/2024<br>alopez : 02/26/2024<br>carol : 09/28/2023<br>carol : 06/05/2020<br>carol : 06/04/2020<br>carol : 03/04/2015<br>carol : 6/26/2014<br>ckniffin : 6/23/2014<br>terry : 3/26/2012<br>carol : 5/4/2010<br>wwang : 3/8/2010<br>terry : 3/5/2010<br>wwang : 3/2/2005<br>terry : 2/25/2005<br>carol : 10/31/2003<br>cwells : 10/6/2003<br>carol : 4/24/2002<br>carol : 4/12/2002<br>carol : 4/12/2002<br>mcapotos : 1/29/2001<br>mcapotos : 1/9/2001<br>mcapotos : 1/9/2001<br>mcapotos : 12/27/2000<br>terry : 12/12/2000<br>alopez : 11/17/1999<br>mark : 5/23/1997<br>mark : 5/20/1997
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