2563 lines
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2563 lines
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Entry
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- #610090 - PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY; PNPOD
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- OMIM
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<p>
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<span class="h4">#610090</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<li role="presentation">
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<a href="/clinicalSynopsis/610090"><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="#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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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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</a>
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</h4>
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<div style="display: table-row">
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<div style="display: table-cell;">Clinical Resources</div>
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</a>
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</span>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE 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="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=11138&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK581452/" 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/9199" 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/pyridoxal-phosphate-responsive-seizures" 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=610090[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79096" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0111329" 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/610090" 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:0111329" 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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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 724576005<br />
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<strong>ORPHA:</strong> 79096<br />
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<strong>DO:</strong> 0111329<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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610090
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</span>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY; PNPOD
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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PNPO DEFICIENCY<br />
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SEIZURES, PYRIDOXINE-RESISTANT, PLP-SENSITIVE<br />
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EPILEPTIC ENCEPHALOPATHY, NEONATAL, PNPO-RELATED
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
|
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
|
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<a href="/geneMap/17/685?start=-3&limit=10&highlight=685">
|
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17q21.32
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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Pyridoxamine 5'-phosphate oxidase deficiency
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/610090"> 610090 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
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PNPO
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/603287"> 603287 </a>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group ">
|
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<a href="/clinicalSynopsis/610090" 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')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
|
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</button>
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</div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
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<ul class="dropdown-menu" style="width: 17em;">
|
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<li><a href="/graph/linear/610090" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
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<li><a href="/graph/radial/610090" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</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>
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<div>
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<p />
|
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</div>
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
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<div class="small" style="margin: 5px">
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</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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|
|
- 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 />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GROWTH </strong>
|
|
</span>
|
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</div>
|
|
<div style="margin-left: 2em;">
|
|
|
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|
|
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|
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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<em> Other </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Failure to thrive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/432788009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">432788009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/54840006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">54840006</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/783.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">783.41</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0015544&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0015544</a>, <a href="https://bioportal.bioontology.org/search?q=C2315100&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2315100</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001508</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001508</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> 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, progressive <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1850456&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1850456</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000253" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000253</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000253" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000253</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1148757008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1148757008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q02" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q02</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/742.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">742.1</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=0584d323b99dcd7001cc50e224947aca" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Microcephaly-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=0584d323b99dcd7001cc50e224947aca" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Eyes </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Eye movement abnormalities <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/103252009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">103252009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0497202&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0497202</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000496" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000496</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000496" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000496</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
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|
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|
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|
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|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> ABDOMEN </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Gastrointestinal </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Feeding problems <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/274540003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">274540003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/78164000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">78164000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R63.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R63.3</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/783.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">783.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0232466&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0232466</a>, <a href="https://bioportal.bioontology.org/search?q=C0699815&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0699815</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011968" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011968</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011968" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011968</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> NEUROLOGIC </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Central Nervous System </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Neonatal epileptic encephalopathy (NEE) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1969155&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1969155</a>]</span><br /> -
|
|
Global developmental delay, variable severity <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4013896&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4013896</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/224958001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">224958001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F88" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F88</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001263" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001263</a>]</span><br /> -
|
|
Burst suppression on EEG <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1969156&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1969156</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010851" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010851</a>]</span><br /> -
|
|
Seizures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/91175000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">91175000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0036572&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0036572</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001250</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001250</a>]</span><br /> -
|
|
Myoclonus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/17450006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">17450006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G25.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G25.3</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/333.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">333.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0027066&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0027066</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001336" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001336</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001336" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001336</a>]</span><br /> -
|
|
Partial response to pyridoxine <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1969157&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1969157</a>]</span><br /> -
|
|
Response to pyridoxal phosphate <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1969158&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1969158</a>]</span><br /> -
|
|
Hypotonia, truncal <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1853743&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1853743</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008936" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008936</a>]</span><br /> -
|
|
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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Unsteady gait <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22631008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22631008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0231686&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0231686</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002317" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002317</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002317" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002317</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> METABOLIC FEATURES </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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- Metabolic acidosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/59455009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">59455009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E87.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E87.20</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0220981&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0220981</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001942" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001942</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001942" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001942</a>]</span><br />
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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> 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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- Anemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/271737000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">271737000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D64.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D64.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/285.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">285.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0002871&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0002871</a>, <a href="https://bioportal.bioontology.org/search?q=C1000483&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1000483</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001903" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001903</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001903" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001903</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> PRENATAL MANIFESTATIONS </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> Delivery </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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- Preterm delivery <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/282020008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">282020008</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/644.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">644.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151526&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151526</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001622" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001622</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001622" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001622</a>]</span><br /> -
|
|
Low APGAR scores <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0549400&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0549400</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030917" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030917</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> LABORATORY ABNORMALITIES </strong>
|
|
</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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|
|
- Increased blood lactate <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0795692&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0795692</a>, <a href="https://bioportal.bioontology.org/search?q=C5888306&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5888306</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002151" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002151</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002151" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002151</a>]</span><br /> -
|
|
Hypoglycemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237630007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237630007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/271327008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">271327008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/302866003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">302866003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1179458001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1179458001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E16.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E16.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/251.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">251.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020615&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020615</a>, <a href="https://bioportal.bioontology.org/search?q=C5767385&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5767385</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001943" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001943</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001943" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001943</a>]</span><br /> -
|
|
Normal to increased plasma glycine <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1969159&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1969159</a>]</span><br /> -
|
|
Normal to increased plasma threonine <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1969160&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1969160</a>]</span><br /> -
|
|
Decreased plasma arginine <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1969161&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1969161</a>]</span><br /> -
|
|
Increased urine vanillactic acid (VLA) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1969162&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1969162</a>]</span><br /> -
|
|
Decreased CSF homovanillic acid (HVA) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837626&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837626</a>]</span><br /> -
|
|
Decreased CSF 5-hydroxyindoleacetic acid (5HIAA) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837627&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837627</a>]</span><br /> -
|
|
Increased CSF 3-methoxytyrosine (3-MT) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1969164&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1969164</a>]</span><br /> -
|
|
Increased CSF glycine <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1969165&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1969165</a>]</span><br /> -
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Increased CSF threonine <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1969166&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1969166</a>]</span><br /> -
|
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Increased CSF taurine <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1969167&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1969167</a>]</span><br /> -
|
|
Increased CSF histidine <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1969168&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1969168</a>]</span><br /> -
|
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Decreased CSF arginine <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1969169&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1969169</a>]</span><br /> -
|
|
Decreased CSF pyridoxal 5-prime-phosphate (PLP) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1969171&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1969171</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> MISCELLANEOUS </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Onset 0-12 hours after birth<br /> -
|
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Variable features and severity<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 pyridoxamine 5-prime-phosphate oxidase gene (PNPO, <a href="/entry/603287#0001">603287.0001</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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<div id="mimTextFold" class="collapse in ">
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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 pyridoxamine 5-prime-phosphate oxidase deficiency (PNPOD) is caused by homozygous or compound heterozygous mutation in the PNPO gene (<a href="/entry/603287">603287</a>) on chromosome 17q21.</p>
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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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<p>PNPOD is an autosomal recessive inborn error of metabolism resulting in vitamin B6 deficiency that manifests as neonatal-onset severe seizures and subsequent encephalopathy. Patients with PNPO mutations tend to respond better to treatment with pyridoxal 5-prime phosphate (PLP) than with pyridoxine (summary by <a href="#4" class="mim-tip-reference" title="Plecko, B., Paul, K., Mills, P., Clayton, P., Paschke, E., Maier, O., Hasselmann, O., Schmiedel, G., Kanz, S., Connolly, M., Wolf, N., Struys, E., Stockler, S., Abela, L., Hofer, D. <strong>Pyridoxine responsiveness in novel mutations of the PNPO gene.</strong> Neurology 82: 1425-1433, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24658933/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24658933</a>] [<a href="https://doi.org/10.1212/WNL.0000000000000344" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24658933">Plecko et al., 2014</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24658933" 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="#1" class="mim-tip-reference" title="Brautigam, C., Hyland, K., Wevers, R., Sharma, R., Wagner, L., Stock, G.-J., Heitmann, F., Hoffmann, G. F. <strong>Clinical and laboratory findings in twins with neonatal epileptic encephalopathy mimicking aromatic L-amino acid decarboxylase deficiency.</strong> Neuropediatrics 33: 113-117, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12200739/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12200739</a>] [<a href="https://doi.org/10.1055/s-2002-33673" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12200739">Brautigam et al. (2002)</a> described twins, born of first-cousin parents, who were born at 29 weeks' gestation and suffered from birth from severe convulsions, myoclonus, rotatory eye movements, sudden clonic contractions, burst suppression electroencephalogram (EEG), hypoglycemia, and acidosis. The patients showed an improvement of the clonic contractions with vitamin B6 supplementation, but died in the third week of life. Biochemical analysis of cerebrospinal fluid and urine suggested aromatic L-amino acid decarboxylase (AADC) deficiency (<a href="/entry/608643">608643</a>), but molecular analysis excluded genetic defect in the AADC gene (<a href="/entry/107930">107930</a>). <a href="#1" class="mim-tip-reference" title="Brautigam, C., Hyland, K., Wevers, R., Sharma, R., Wagner, L., Stock, G.-J., Heitmann, F., Hoffmann, G. F. <strong>Clinical and laboratory findings in twins with neonatal epileptic encephalopathy mimicking aromatic L-amino acid decarboxylase deficiency.</strong> Neuropediatrics 33: 113-117, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12200739/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12200739</a>] [<a href="https://doi.org/10.1055/s-2002-33673" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12200739">Brautigam et al. (2002)</a> suggested that the epileptic encephalopathy in the twins was in the pathway of vitamin B6 metabolism. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12200739" 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="Clayton, P. T., Surtees, R. A. H., DeVile, C., Hyland, K., Heales, S. J. R. <strong>Neonatal epileptic encephalopathy.</strong> Lancet 361: 1614 only, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12747882/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12747882</a>] [<a href="https://doi.org/10.1016/s0140-6736(03)13312-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12747882">Clayton et al. (2003)</a> presented a boy born at 35 weeks' gestation by cesarean section for fetal distress. His consanguineous parents were of East African Asian origin. Seizures commenced on day 1 and rapidly progressed to status epilepticus. Electroencephalogram showed severe generalized burst suppression. Biochemistry was suggestive of reduced AADC activity; seizures responded dramatically to pyridoxal phosphate (PLP). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12747882" 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 study of 5 patients, including those of <a href="#1" class="mim-tip-reference" title="Brautigam, C., Hyland, K., Wevers, R., Sharma, R., Wagner, L., Stock, G.-J., Heitmann, F., Hoffmann, G. F. <strong>Clinical and laboratory findings in twins with neonatal epileptic encephalopathy mimicking aromatic L-amino acid decarboxylase deficiency.</strong> Neuropediatrics 33: 113-117, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12200739/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12200739</a>] [<a href="https://doi.org/10.1055/s-2002-33673" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12200739">Brautigam et al. (2002)</a> and <a href="#2" class="mim-tip-reference" title="Clayton, P. T., Surtees, R. A. H., DeVile, C., Hyland, K., Heales, S. J. R. <strong>Neonatal epileptic encephalopathy.</strong> Lancet 361: 1614 only, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12747882/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12747882</a>] [<a href="https://doi.org/10.1016/s0140-6736(03)13312-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12747882">Clayton et al. (2003)</a>, with PNPO deficiency, <a href="#3" class="mim-tip-reference" title="Mills, P. B., Surtees, R. A. H., Champion, M. P., Beesley, C. E., Dalton, N., Scambler, P. J., Heales, S. J. R., Briddon, A., Scheimberg, I., Hoffmann, G. F., Zschocke, J., Clayton, P. T. <strong>Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5-prime-phosphate oxidase.</strong> Hum. Molec. Genet. 14: 1077-1086, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15772097/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15772097</a>] [<a href="https://doi.org/10.1093/hmg/ddi120" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15772097">Mills et al. (2005)</a> reviewed the phenotype. All patients were born prematurely and all but one had low Apgar scores and/or required intubation. Early acidosis was also common. Thus, PNPO deficiency must enter the differential diagnosis of hypoxic-ischemic encephalopathy in a prematurely born infant. Seizures commenced on the first day of life, with EEG showing a burst suppression pattern. Biochemical abnormalities in CSF and urine were as for AADC deficiency with the additional features of raised glycine (in all 5), threonine (4 of 5), taurine (4 of 5), histidine (all 5), and low arginine (3 of 5). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15772097+12747882+12200739" 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="Ruiz, A., Garcia-Villoria, J., Ormazabal, A., Zschocke, J., Fiol, M., Navarro-Sastre, A., Artuch, R., Vilaseca, M. A., Ribes, A. <strong>A new fatal case of pyridox(am)ine 5-prime-phosphate oxidase (PNPO) deficiency.</strong> Molec. Genet. Metab. 93: 216-218, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18024216/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18024216</a>] [<a href="https://doi.org/10.1016/j.ymgme.2007.10.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18024216">Ruiz et al. (2008)</a> reported a male infant with PNPO deficiency. The mother reported repetitive fetal rhythmic movements 2 weeks before delivery, thought to be related to seizures. At birth he had a faltering cry, hypersalivation with orobuccal rhythmic movements accompanied by myoclonus and marked hyperexcitability requiring intubation and ventilation. EEG showed severe myoclonic epilepsy. Brain imaging at 23, 25, and 35 days showed progressive hypomyelination and global atrophy. Laboratory studies showed anemia, leukopenia, thrombocytopenia, and coagulopathy. Analysis of urinary organic acids, plasma amino acids, and CSF neurotransmitters suggested PNPO deficiency. He died of multiorgan failure due to uncontrollable fungal infection at 48 days of life. Genetic analysis identified a homozygous mutation in the PNPO gene (<a href="/entry/603287#0004">603287.0004</a>). Prenatal diagnosis using chorionic villus sampling in a subsequent pregnancy identified the same homozygous mutation in the fetus. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18024216" 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="Plecko, B., Paul, K., Mills, P., Clayton, P., Paschke, E., Maier, O., Hasselmann, O., Schmiedel, G., Kanz, S., Connolly, M., Wolf, N., Struys, E., Stockler, S., Abela, L., Hofer, D. <strong>Pyridoxine responsiveness in novel mutations of the PNPO gene.</strong> Neurology 82: 1425-1433, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24658933/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24658933</a>] [<a href="https://doi.org/10.1212/WNL.0000000000000344" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24658933">Plecko et al. (2014)</a> reported 11 children from 7 families with PNPOD, confirmed by genetic analysis, who had a complete or partial response to pyridoxine treatment. All patients presented in the neonatal period with recurrent myoclonic and tonic jerks accompanied by rolling eye movements and desaturation. EEG showed burst-suppression patterns and/or discontinuous tracings. Ten of 11 patients had pyridoxine administration in the first week of life, and 1 had pyridoxine treatment at age 6 weeks. Pyridoxine led to prompt cessation of seizures in 4 patients, delayed seizure reduction in 2, initial EEG improvement only in 2, and no effect in 2, although 1 of these last patients had remission after subsequent treatment with pyridoxine. Two patients developed status epilepticus after pyridoxine was replaced with PLP. Breakthrough seizures while on pyridoxine were observed in 5 of 9 living patients. Five patients had a favorable overall outcome, 2 had global developmental delay, 2 had severe neurologic sequelae, and 2 died in the absence of continuous pyridoxine treatment. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24658933" 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="Ware, T. L., Earl, J., Salomons, G. S., Struys, E. A., Peters, H. L., Howell, K. B., Pitt, J. J., Freeman, J. L. <strong>Typical and atypical phenotypes of PNPO deficiency with elevated CSF and plasma pyridoxamine on treatment.</strong> Dev. Med. Child Neurol. 56: 498-502, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24266778/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24266778</a>] [<a href="https://doi.org/10.1111/dmcn.12346" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24266778">Ware et al. (2014)</a> reported 2 unrelated boys with PNPOD. Both developed multifocal myoclonic seizures on the first day of life. One of the boys showed hemiclonic seizures, hypertonia, mild encephalopathy, and high-pitched cry until pyridoxine therapy was added on day 7 of life. Breakthrough seizures occurred whenever pyridoxine doses were missed. At age 4 years, the patient had autism spectrum disorder. EEG showed centrotemporal spikes with rare generalized spike-wave bursts. Sequencing of the ALDH7A1 gene was normal, and a trial of monotherapy with pyridoxal 5-prime phosphate (PLP) was commenced, but seizures recurred. After a pathogenic mutation in the PNPO gene was found, the patient had combination therapy with both pyridoxine and PLP, with subsequent reduction of the pyridoxine. At age 7, the patient took only PLP and experienced no significant additional seizures. The second patient had a good initial and subsequent response to monotherapy with high-dose PLP beginning in infancy. At age 21 months, he had moderate global developmental delay and hemiparesis. The report indicated that some patients with PNPOD can respond to pyridoxine treatment. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24266778" 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 PNPOD in the families reported by <a href="#4" class="mim-tip-reference" title="Plecko, B., Paul, K., Mills, P., Clayton, P., Paschke, E., Maier, O., Hasselmann, O., Schmiedel, G., Kanz, S., Connolly, M., Wolf, N., Struys, E., Stockler, S., Abela, L., Hofer, D. <strong>Pyridoxine responsiveness in novel mutations of the PNPO gene.</strong> Neurology 82: 1425-1433, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24658933/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24658933</a>] [<a href="https://doi.org/10.1212/WNL.0000000000000344" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24658933">Plecko et al. (2014)</a> was consistent with autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24658933" 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>Among 5 patients in 3 families with neonatal epileptic encephalopathy, <a href="#3" class="mim-tip-reference" title="Mills, P. B., Surtees, R. A. H., Champion, M. P., Beesley, C. E., Dalton, N., Scambler, P. J., Heales, S. J. R., Briddon, A., Scheimberg, I., Hoffmann, G. F., Zschocke, J., Clayton, P. T. <strong>Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5-prime-phosphate oxidase.</strong> Hum. Molec. Genet. 14: 1077-1086, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15772097/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15772097</a>] [<a href="https://doi.org/10.1093/hmg/ddi120" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15772097">Mills et al. (2005)</a> found evidence in cerebrospinal fluid and urine for reduced activity of aromatic L-amino acid decarboxylase (AADC; <a href="/entry/107930">107930</a>) and other PLP-dependent enzymes. Seizures ceased with the administration of PLP, having been resistant to treatment with pyridoxine, suggesting a defect of pyridox(am)ine 5-prime-phosphate oxidase (PNPO; <a href="/entry/603287">603287</a>). Sequencing of the PNPO gene identified homozygous missense, splice site, and stop codon mutations. Expression studies in Chinese hamster ovary cells showed that the splice site (IVS3-1G-A; <a href="/entry/603287#0002">603287.0002</a>) and stop codon (X262Q; <a href="/entry/603287#0003">603287.0003</a>) mutations were null activity mutations and that the missense mutation (R229W; <a href="/entry/603287#0001">603287.0001</a>) markedly reduced pyridox(am)ine phosphate oxidase activity. The authors suggested that maintenance of optimal PLP levels in the brain may be important in many neurologic disorders in which neurotransmitter metabolism is disturbed (either as a primary or as a secondary phenomenon). Only one infant, treated with PLP, survived the newborn period, but exhibited seizures, dystonic spasms, microcephaly, and severe developmental delay at 2 years of age. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15772097" 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 11 patients from 7 unrelated families with PNPOD, <a href="#4" class="mim-tip-reference" title="Plecko, B., Paul, K., Mills, P., Clayton, P., Paschke, E., Maier, O., Hasselmann, O., Schmiedel, G., Kanz, S., Connolly, M., Wolf, N., Struys, E., Stockler, S., Abela, L., Hofer, D. <strong>Pyridoxine responsiveness in novel mutations of the PNPO gene.</strong> Neurology 82: 1425-1433, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24658933/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24658933</a>] [<a href="https://doi.org/10.1212/WNL.0000000000000344" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24658933">Plecko et al. (2014)</a> identified 3 different biallelic mutations in the PNPO gene; 6 of the families carried the same homozygous missense mutation (R225H; <a href="/entry/603287#0005">603287.0005</a>). In vitro functional expression studies in CHO cells showed that the R225H mutant protein had no detectable enzyme activity. Most of the patients had a partial or even complete response to pyridoxine treatment. The 6 families derived from the former Yugoslavia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24658933" 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 unrelated boys with PNPOD, <a href="#6" class="mim-tip-reference" title="Ware, T. L., Earl, J., Salomons, G. S., Struys, E. A., Peters, H. L., Howell, K. B., Pitt, J. J., Freeman, J. L. <strong>Typical and atypical phenotypes of PNPO deficiency with elevated CSF and plasma pyridoxamine on treatment.</strong> Dev. Med. Child Neurol. 56: 498-502, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24266778/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24266778</a>] [<a href="https://doi.org/10.1111/dmcn.12346" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24266778">Ware et al. (2014)</a> identified 2 different homozygous missense mutations in the PNPO gene (<a href="/entry/603287#0005">603287.0005</a> and <a href="/entry/603287#0006">603287.0006</a>). Functional studies of the variants were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24266778" 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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<strong>REFERENCES</strong>
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<a id="Brautigam2002" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Brautigam, C., Hyland, K., Wevers, R., Sharma, R., Wagner, L., Stock, G.-J., Heitmann, F., Hoffmann, G. F.
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<strong>Clinical and laboratory findings in twins with neonatal epileptic encephalopathy mimicking aromatic L-amino acid decarboxylase deficiency.</strong>
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Neuropediatrics 33: 113-117, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12200739/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12200739</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12200739" 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/10.1055/s-2002-33673" target="_blank">Full Text</a>]
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<a id="Clayton2003" class="mim-anchor"></a>
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Clayton, P. T., Surtees, R. A. H., DeVile, C., Hyland, K., Heales, S. J. R.
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<strong>Neonatal epileptic encephalopathy.</strong>
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Lancet 361: 1614 only, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12747882/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12747882</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12747882" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0140-6736(03)13312-0" target="_blank">Full Text</a>]
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<a id="3" class="mim-anchor"></a>
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<a id="Mills2005" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Mills, P. B., Surtees, R. A. H., Champion, M. P., Beesley, C. E., Dalton, N., Scambler, P. J., Heales, S. J. R., Briddon, A., Scheimberg, I., Hoffmann, G. F., Zschocke, J., Clayton, P. T.
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<strong>Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5-prime-phosphate oxidase.</strong>
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Hum. Molec. Genet. 14: 1077-1086, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15772097/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15772097</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15772097" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/ddi120" target="_blank">Full Text</a>]
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<a id="4" class="mim-anchor"></a>
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<a id="Plecko2014" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Plecko, B., Paul, K., Mills, P., Clayton, P., Paschke, E., Maier, O., Hasselmann, O., Schmiedel, G., Kanz, S., Connolly, M., Wolf, N., Struys, E., Stockler, S., Abela, L., Hofer, D.
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<strong>Pyridoxine responsiveness in novel mutations of the PNPO gene.</strong>
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Neurology 82: 1425-1433, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24658933/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24658933</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24658933" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1212/WNL.0000000000000344" target="_blank">Full Text</a>]
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<a id="5" class="mim-anchor"></a>
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<a id="Ruiz2008" class="mim-anchor"></a>
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<p class="mim-text-font">
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Ruiz, A., Garcia-Villoria, J., Ormazabal, A., Zschocke, J., Fiol, M., Navarro-Sastre, A., Artuch, R., Vilaseca, M. A., Ribes, A.
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<strong>A new fatal case of pyridox(am)ine 5-prime-phosphate oxidase (PNPO) deficiency.</strong>
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Molec. Genet. Metab. 93: 216-218, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18024216/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18024216</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18024216" 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.2007.10.003" target="_blank">Full Text</a>]
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<a id="6" class="mim-anchor"></a>
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<a id="Ware2014" class="mim-anchor"></a>
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<p class="mim-text-font">
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Ware, T. L., Earl, J., Salomons, G. S., Struys, E. A., Peters, H. L., Howell, K. B., Pitt, J. J., Freeman, J. L.
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<strong>Typical and atypical phenotypes of PNPO deficiency with elevated CSF and plasma pyridoxamine on treatment.</strong>
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Dev. Med. Child Neurol. 56: 498-502, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24266778/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24266778</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24266778" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/dmcn.12346" target="_blank">Full Text</a>]
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 3/1/2016
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 3/3/2008<br>Anne M. Stumpf - updated : 5/9/2006
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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George E. Tiller : 5/8/2006
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alopez : 03/03/2016
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ckniffin : 3/1/2016<br>wwang : 3/3/2008<br>ckniffin : 3/3/2008<br>alopez : 5/9/2006
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<strong>#</strong> 610090
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PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY; PNPOD
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<em>Alternative titles; symbols</em>
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PNPO DEFICIENCY<br />
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SEIZURES, PYRIDOXINE-RESISTANT, PLP-SENSITIVE<br />
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EPILEPTIC ENCEPHALOPATHY, NEONATAL, PNPO-RELATED
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<strong>SNOMEDCT:</strong> 724576005;
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<strong>ORPHA:</strong> 79096;
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<strong>DO:</strong> 0111329;
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<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<span class="mim-font">
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17q21.32
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<span class="mim-font">
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Pyridoxamine 5'-phosphate oxidase deficiency
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<span class="mim-font">
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610090
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Autosomal recessive
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<span class="mim-font">
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3
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PNPO
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<span class="mim-font">
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603287
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<strong>TEXT</strong>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that pyridoxamine 5-prime-phosphate oxidase deficiency (PNPOD) is caused by homozygous or compound heterozygous mutation in the PNPO gene (603287) on chromosome 17q21.</p>
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<span class="mim-font">
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<strong>Description</strong>
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<span class="mim-text-font">
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<p>PNPOD is an autosomal recessive inborn error of metabolism resulting in vitamin B6 deficiency that manifests as neonatal-onset severe seizures and subsequent encephalopathy. Patients with PNPO mutations tend to respond better to treatment with pyridoxal 5-prime phosphate (PLP) than with pyridoxine (summary by Plecko et al., 2014). </p>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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<p>Brautigam et al. (2002) described twins, born of first-cousin parents, who were born at 29 weeks' gestation and suffered from birth from severe convulsions, myoclonus, rotatory eye movements, sudden clonic contractions, burst suppression electroencephalogram (EEG), hypoglycemia, and acidosis. The patients showed an improvement of the clonic contractions with vitamin B6 supplementation, but died in the third week of life. Biochemical analysis of cerebrospinal fluid and urine suggested aromatic L-amino acid decarboxylase (AADC) deficiency (608643), but molecular analysis excluded genetic defect in the AADC gene (107930). Brautigam et al. (2002) suggested that the epileptic encephalopathy in the twins was in the pathway of vitamin B6 metabolism. </p><p>Clayton et al. (2003) presented a boy born at 35 weeks' gestation by cesarean section for fetal distress. His consanguineous parents were of East African Asian origin. Seizures commenced on day 1 and rapidly progressed to status epilepticus. Electroencephalogram showed severe generalized burst suppression. Biochemistry was suggestive of reduced AADC activity; seizures responded dramatically to pyridoxal phosphate (PLP). </p><p>In a study of 5 patients, including those of Brautigam et al. (2002) and Clayton et al. (2003), with PNPO deficiency, Mills et al. (2005) reviewed the phenotype. All patients were born prematurely and all but one had low Apgar scores and/or required intubation. Early acidosis was also common. Thus, PNPO deficiency must enter the differential diagnosis of hypoxic-ischemic encephalopathy in a prematurely born infant. Seizures commenced on the first day of life, with EEG showing a burst suppression pattern. Biochemical abnormalities in CSF and urine were as for AADC deficiency with the additional features of raised glycine (in all 5), threonine (4 of 5), taurine (4 of 5), histidine (all 5), and low arginine (3 of 5). </p><p>Ruiz et al. (2008) reported a male infant with PNPO deficiency. The mother reported repetitive fetal rhythmic movements 2 weeks before delivery, thought to be related to seizures. At birth he had a faltering cry, hypersalivation with orobuccal rhythmic movements accompanied by myoclonus and marked hyperexcitability requiring intubation and ventilation. EEG showed severe myoclonic epilepsy. Brain imaging at 23, 25, and 35 days showed progressive hypomyelination and global atrophy. Laboratory studies showed anemia, leukopenia, thrombocytopenia, and coagulopathy. Analysis of urinary organic acids, plasma amino acids, and CSF neurotransmitters suggested PNPO deficiency. He died of multiorgan failure due to uncontrollable fungal infection at 48 days of life. Genetic analysis identified a homozygous mutation in the PNPO gene (603287.0004). Prenatal diagnosis using chorionic villus sampling in a subsequent pregnancy identified the same homozygous mutation in the fetus. </p><p>Plecko et al. (2014) reported 11 children from 7 families with PNPOD, confirmed by genetic analysis, who had a complete or partial response to pyridoxine treatment. All patients presented in the neonatal period with recurrent myoclonic and tonic jerks accompanied by rolling eye movements and desaturation. EEG showed burst-suppression patterns and/or discontinuous tracings. Ten of 11 patients had pyridoxine administration in the first week of life, and 1 had pyridoxine treatment at age 6 weeks. Pyridoxine led to prompt cessation of seizures in 4 patients, delayed seizure reduction in 2, initial EEG improvement only in 2, and no effect in 2, although 1 of these last patients had remission after subsequent treatment with pyridoxine. Two patients developed status epilepticus after pyridoxine was replaced with PLP. Breakthrough seizures while on pyridoxine were observed in 5 of 9 living patients. Five patients had a favorable overall outcome, 2 had global developmental delay, 2 had severe neurologic sequelae, and 2 died in the absence of continuous pyridoxine treatment. </p><p>Ware et al. (2014) reported 2 unrelated boys with PNPOD. Both developed multifocal myoclonic seizures on the first day of life. One of the boys showed hemiclonic seizures, hypertonia, mild encephalopathy, and high-pitched cry until pyridoxine therapy was added on day 7 of life. Breakthrough seizures occurred whenever pyridoxine doses were missed. At age 4 years, the patient had autism spectrum disorder. EEG showed centrotemporal spikes with rare generalized spike-wave bursts. Sequencing of the ALDH7A1 gene was normal, and a trial of monotherapy with pyridoxal 5-prime phosphate (PLP) was commenced, but seizures recurred. After a pathogenic mutation in the PNPO gene was found, the patient had combination therapy with both pyridoxine and PLP, with subsequent reduction of the pyridoxine. At age 7, the patient took only PLP and experienced no significant additional seizures. The second patient had a good initial and subsequent response to monotherapy with high-dose PLP beginning in infancy. At age 21 months, he had moderate global developmental delay and hemiparesis. The report indicated that some patients with PNPOD can respond to pyridoxine treatment. </p>
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<strong>Inheritance</strong>
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<p>The transmission pattern of PNPOD in the families reported by Plecko et al. (2014) was consistent with autosomal recessive inheritance. </p>
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<strong>Molecular Genetics</strong>
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<p>Among 5 patients in 3 families with neonatal epileptic encephalopathy, Mills et al. (2005) found evidence in cerebrospinal fluid and urine for reduced activity of aromatic L-amino acid decarboxylase (AADC; 107930) and other PLP-dependent enzymes. Seizures ceased with the administration of PLP, having been resistant to treatment with pyridoxine, suggesting a defect of pyridox(am)ine 5-prime-phosphate oxidase (PNPO; 603287). Sequencing of the PNPO gene identified homozygous missense, splice site, and stop codon mutations. Expression studies in Chinese hamster ovary cells showed that the splice site (IVS3-1G-A; 603287.0002) and stop codon (X262Q; 603287.0003) mutations were null activity mutations and that the missense mutation (R229W; 603287.0001) markedly reduced pyridox(am)ine phosphate oxidase activity. The authors suggested that maintenance of optimal PLP levels in the brain may be important in many neurologic disorders in which neurotransmitter metabolism is disturbed (either as a primary or as a secondary phenomenon). Only one infant, treated with PLP, survived the newborn period, but exhibited seizures, dystonic spasms, microcephaly, and severe developmental delay at 2 years of age. </p><p>In 11 patients from 7 unrelated families with PNPOD, Plecko et al. (2014) identified 3 different biallelic mutations in the PNPO gene; 6 of the families carried the same homozygous missense mutation (R225H; 603287.0005). In vitro functional expression studies in CHO cells showed that the R225H mutant protein had no detectable enzyme activity. Most of the patients had a partial or even complete response to pyridoxine treatment. The 6 families derived from the former Yugoslavia. </p><p>In 2 unrelated boys with PNPOD, Ware et al. (2014) identified 2 different homozygous missense mutations in the PNPO gene (603287.0005 and 603287.0006). Functional studies of the variants were not performed. </p>
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<strong>REFERENCES</strong>
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Brautigam, C., Hyland, K., Wevers, R., Sharma, R., Wagner, L., Stock, G.-J., Heitmann, F., Hoffmann, G. F.
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<strong>Clinical and laboratory findings in twins with neonatal epileptic encephalopathy mimicking aromatic L-amino acid decarboxylase deficiency.</strong>
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Neuropediatrics 33: 113-117, 2002.
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[PubMed: 12200739]
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[Full Text: https://doi.org/10.1055/s-2002-33673]
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Clayton, P. T., Surtees, R. A. H., DeVile, C., Hyland, K., Heales, S. J. R.
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<strong>Neonatal epileptic encephalopathy.</strong>
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Lancet 361: 1614 only, 2003.
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[PubMed: 12747882]
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[Full Text: https://doi.org/10.1016/s0140-6736(03)13312-0]
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Mills, P. B., Surtees, R. A. H., Champion, M. P., Beesley, C. E., Dalton, N., Scambler, P. J., Heales, S. J. R., Briddon, A., Scheimberg, I., Hoffmann, G. F., Zschocke, J., Clayton, P. T.
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<strong>Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5-prime-phosphate oxidase.</strong>
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Hum. Molec. Genet. 14: 1077-1086, 2005.
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[PubMed: 15772097]
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[Full Text: https://doi.org/10.1093/hmg/ddi120]
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Plecko, B., Paul, K., Mills, P., Clayton, P., Paschke, E., Maier, O., Hasselmann, O., Schmiedel, G., Kanz, S., Connolly, M., Wolf, N., Struys, E., Stockler, S., Abela, L., Hofer, D.
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<strong>Pyridoxine responsiveness in novel mutations of the PNPO gene.</strong>
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Neurology 82: 1425-1433, 2014.
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[PubMed: 24658933]
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[Full Text: https://doi.org/10.1212/WNL.0000000000000344]
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Ruiz, A., Garcia-Villoria, J., Ormazabal, A., Zschocke, J., Fiol, M., Navarro-Sastre, A., Artuch, R., Vilaseca, M. A., Ribes, A.
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<strong>A new fatal case of pyridox(am)ine 5-prime-phosphate oxidase (PNPO) deficiency.</strong>
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Molec. Genet. Metab. 93: 216-218, 2008.
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[PubMed: 18024216]
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[Full Text: https://doi.org/10.1016/j.ymgme.2007.10.003]
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Ware, T. L., Earl, J., Salomons, G. S., Struys, E. A., Peters, H. L., Howell, K. B., Pitt, J. J., Freeman, J. L.
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<strong>Typical and atypical phenotypes of PNPO deficiency with elevated CSF and plasma pyridoxamine on treatment.</strong>
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Dev. Med. Child Neurol. 56: 498-502, 2014.
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[PubMed: 24266778]
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[Full Text: https://doi.org/10.1111/dmcn.12346]
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Cassandra L. Kniffin - updated : 3/1/2016<br>Cassandra L. Kniffin - updated : 3/3/2008<br>Anne M. Stumpf - updated : 5/9/2006
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