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Entry
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- #237300 - CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIA DUE TO
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<p>
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<span class="h4">#237300</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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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/237300"><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="#otherFeatures">Other Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#diagnosis">Diagnosis</a>
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<a href="#clinicalManagement">Clinical Management</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</a>
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<a href="#populationGenetics">Population Genetics</a>
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<li role="presentation">
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<a href="#seeAlso"><strong>See Also</strong></a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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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=(CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIA DUE TO) OR (CPS1)" class="mim-tip-hint" title="Clinical Trials" 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=461&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/NBK1217/" 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/8065" 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/carbamoyl-phosphate-synthetase-i-deficiency" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=237300[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.acmg.net/PDFLibrary/Decreased-Citrulline.pdf" class="mim-tip-hint" title="Information and resources for newborn screening and genetics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Newborn Screening', 'domain': 'www.acmg.net'})">Newborn Screening</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=147" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:9280" 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/237300" 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 class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://catalog.coriell.org/Search?q=OmimNum:237300" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 765329008<br />
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<strong>ORPHA:</strong> 147<br />
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<strong>DO:</strong> 9280<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
|
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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237300
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</span>
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</span>
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</div>
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</div>
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<div>
|
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<a id="preferredTitle" class="mim-anchor"></a>
|
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<h3>
|
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<span class="mim-font">
|
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|
|
CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIA DUE TO
|
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</span>
|
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</h3>
|
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</div>
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<div>
|
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<br />
|
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</div>
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<div>
|
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<a id="alternativeTitles" class="mim-anchor"></a>
|
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<div>
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<p>
|
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<span class="mim-font">
|
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<em>Alternative titles; symbols</em>
|
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</span>
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</p>
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</div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY<br />
|
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CPS I DEFICIENCY
|
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
|
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<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>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/2/975?start=-3&limit=10&highlight=975">
|
|
2q34
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Carbamoylphosphate synthetase I deficiency
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/237300"> 237300 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
CPS1
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608307"> 608307 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/237300" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/237300" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/237300" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
|
|
|
|
|
|
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GROWTH </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<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>
|
|
<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">
|
|
|
|
- Protein avoidance <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839531&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839531</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002038" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002038</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002038" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002038</a>]</span><br /> -
|
|
Vomiting <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/422400008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">422400008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/300359004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">300359004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249497008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249497008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R11.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R11.1</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R11.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R11.10</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0042963&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0042963</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002013" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002013</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002013" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002013</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>
|
|
<span class="mim-font">
|
|
|
|
- Irritability <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/55929007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">55929007</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/799.22" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">799.22</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0022107&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022107</a>, <a href="https://bioportal.bioontology.org/search?q=C2700617&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2700617</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000737" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000737</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000737" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000737</a>]</span><br /> -
|
|
Lethargy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/214264003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">214264003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R53.83" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R53.83</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0023380&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0023380</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001254" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001254</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001254" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001254</a>]</span><br /> -
|
|
Ataxia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/20262006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">20262006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/39384006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">39384006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/85102008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">85102008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R27.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R27.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/438.84" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">438.84</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0004134&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0004134</a>, <a href="https://bioportal.bioontology.org/search?q=C1135207&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1135207</a>, <a href="https://bioportal.bioontology.org/search?q=C0007758&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0007758</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001251" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001251</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0010867" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010867</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001251" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001251</a>]</span><br /> -
|
|
Coma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/371632003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">371632003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/405809000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">405809000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R40.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R40.20</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R40.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R40.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/780.01" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">780.01</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0543874&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0543874</a>, <a href="https://bioportal.bioontology.org/search?q=C3146279&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3146279</a>, <a href="https://bioportal.bioontology.org/search?q=C0009421&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0009421</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001259" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001259</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001259" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001259</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 /> -
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Cerebral edema <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/2032001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">2032001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G93.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G93.6</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/348.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">348.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0006114&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0006114</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002181" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002181</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002181" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002181</a>]</span><br /> -
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Developmental delay <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/248290002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">248290002</a>, <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">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/315.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">315.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0557874&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0557874</a>, <a href="https://bioportal.bioontology.org/search?q=C0424605&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0424605</a> 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> <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 /> -
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Mental retardation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/228156007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">228156007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/110359009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">110359009</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/317-319.99" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">317-319.99</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3714756&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3714756</a>, <a href="https://bioportal.bioontology.org/search?q=C0025362&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025362</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001249" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001249</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001249" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001249</a>]</span><br /> -
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Stroke (rare) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/230690007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">230690007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I63.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I63.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0038454&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0038454</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001297" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001297</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001297" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001297</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> 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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- Episodic ammonia intoxication <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839541&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839541</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001951" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001951</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001951" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001951</a>]</span><br /> -
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Respiratory alkalosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/111378004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">111378004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E87.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E87.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0002064&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0002064</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001950" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001950</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001950" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001950</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> LABORATORY ABNORMALITIES </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Hyperammonemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/9360008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">9360008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E72.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E72.20</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5574662&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5574662</a>, <a href="https://bioportal.bioontology.org/search?q=C0220994&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0220994</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001987" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001987</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001987" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001987</a>]</span><br /> -
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Low plasma citrulline <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839532&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839532</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003572" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003572</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003572" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003572</a>]</span><br /> -
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Low plasma arginine <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855982&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855982</a>]</span><br /> -
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Low urinary orotic acid <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855983&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855983</a>]</span><br /> -
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Hepatic carbamoylphosphate synthetase I deficiency <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855984&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855984</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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- Two types - lethal neonatal and less severe, late onset<br /> -
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Prevalence of 1 in 200,000 to 1 in 800,000<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 carbamoylphosphate synthetase I gene (CPS1, <a href="/entry/608307#0001">608307.0001</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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<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 hyperammonemia due to carbamoyl phosphate synthetase I deficiency is caused by homozygous or compound heterozygous mutation in the CPS1 gene (<a href="/entry/608307">608307</a>) on chromosome 2q34.</p>
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</span>
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<br />
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<div>
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<a id="description" class="mim-anchor"></a>
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<div id="mimDescriptionFold" class="collapse in ">
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<span class="mim-text-font">
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<p>Carbamoyl phosphate synthetase I deficiency is an autosomal recessive inborn error of metabolism of the urea cycle which causes hyperammonemia. There are 2 main forms: a lethal neonatal type and a less severe, delayed-onset type (summary by <a href="#15" class="mim-tip-reference" title="Klaus, V., Vermeulen, T., Minassian, B., Israelian, N., Engel, K., Lund, A. M., Roebrock, K., Christensen, E., Haberle, J. <strong>Highly variable clinical phenotype of carbamylphosphate synthetase 1 deficiency in one family: an effect of allelic variation in gene expression?</strong> Clin. Genet. 76: 263-269, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19793055/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19793055</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2009.01216.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19793055">Klaus et al., 2009</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19793055" 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>Urea cycle disorders are characterized by the triad of hyperammonemia, encephalopathy, and respiratory alkalosis. Five disorders involving different defects in the biosynthesis of the enzymes of the urea cycle have been described: ornithine transcarbamylase deficiency (<a href="/entry/311250">311250</a>), carbamyl phosphate synthetase deficiency, argininosuccinate synthetase deficiency, or citrullinemia (<a href="/entry/215700">215700</a>), argininosuccinate lyase deficiency (<a href="/entry/207900">207900</a>), and arginase deficiency (<a href="/entry/207800">207800</a>).</p>
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</span>
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<div>
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<br />
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<div>
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<a id="clinicalFeatures" class="mim-anchor"></a>
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<h4 href="#mimClinicalFeaturesFold" id="mimClinicalFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimClinicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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</span>
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</h4>
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<div id="mimClinicalFeaturesFold" class="collapse in mimTextToggleFold">
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<span class="mim-text-font">
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<p><strong><em>Early-Onset Form</em></strong></p><p>
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This disorder was first reported by <a href="#8" class="mim-tip-reference" title="Freeman, J. M., Nicholson, J. F., Schimke, R. T., Rowland, L. P., Carter, S. <strong>Congenital hyperammonemia: association with hyperglycinemia and decreased levels of carbamyl phosphate synthetase.</strong> Arch. Neurol. 23: 430-437, 1970.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5471650/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5471650</a>] [<a href="https://doi.org/10.1001/archneur.1970.00480290050006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5471650">Freeman et al. (1970)</a> in a patient with congenital hyperammonemia and decreased levels of carbamoyl phosphate synthetase. A family with 3 affected sibs was reported by <a href="#12" class="mim-tip-reference" title="Hommes, F. A., De Groot, C. J., Wilmink, C. W., Jonxis, J. H. P. <strong>Carbamylphosphate synthetase deficiency in an infant with severe cerebral damage.</strong> Arch. Dis. Child. 44: 688-693, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5356974/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5356974</a>] [<a href="https://doi.org/10.1136/adc.44.238.688" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5356974">Hommes et al. (1969)</a> and by <a href="#5" class="mim-tip-reference" title="Ebels, E. J. <strong>Neuropathological observations in a patient with carbamyl-phosphate-synthetase deficiency and in two sibs.</strong> Arch. Dis. Child. 47: 47-51, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4111816/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4111816</a>] [<a href="https://doi.org/10.1136/adc.47.251.47" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4111816">Ebels (1972)</a>. One affected infant had severe cerebral damage. <a href="#9" class="mim-tip-reference" title="Gelehrter, T. D., Snodgrass, P. J. <strong>Lethal neonatal deficiency of carbamyl phosphate synthetase.</strong> New Eng. J. Med. 290: 430-433, 1974.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4811018/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4811018</a>] [<a href="https://doi.org/10.1056/NEJM197402212900804" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4811018">Gelehrter and Snodgrass (1974)</a> reported a case and commented on the fact that it is mitochondrial carbamoyl phosphate synthetase that is deficient in this condition. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5356974+4111816+5471650+4811018" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#21" class="mim-tip-reference" title="Suzuki, Y., Matsushima, A., Ohtake, A., Mori, M., Tatibana, M., Orii, T. <strong>Carbamyl phosphate synthetase I deficiency with no detectable mRNA activity.</strong> Europ. J. Pediat. 145: 406-408, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3792387/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3792387</a>] [<a href="https://doi.org/10.1007/BF00439249" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3792387">Suzuki et al. (1986)</a> described a female infant with CPS I deficiency who died on the ninth postnatal day. They could detect no enzyme protein or mRNA activity for CPS I. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3792387" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Finckh, U., Kohlschutter, A., Schafer, H., Sperhake, K., Colombo, J.-P., Gal, A. <strong>Prenatal diagnosis of carbamoyl phosphate synthetase I deficiency by identification of a missense mutation in CPS1.</strong> Hum. Mutat. 12: 206-211, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9711878/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9711878</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(1998)12:3<206::AID-HUMU8>3.0.CO;2-E" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9711878">Finckh et al. (1998)</a> reported a male infant with severe CPS I deficiency who died at 11 days of age. The parents were consanguineous. Three days after normal term delivery, he developed hyperammonemic coma. Histopathologic examination of the liver showed diffuse microvesicular steatosis, distinct focal hepatocellular and Kupffer cell glycogenosis, and no enzymatic CPS I activity. A mutation in the CPS1 gene was detected (<a href="/entry/608307#0002">608307.0002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9711878" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Delayed-Onset Form</em></strong></p><p>
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<a href="#10" class="mim-tip-reference" title="Granot, E., Matoth, I., Lotan, C., Shvil, Y., Lijovetzky, G., Yatziv, S. <strong>Partial carbamyl phosphate synthetase deficiency, simulating Reye's syndrome, in a 9-year-old girl.</strong> Isr. J. Med. Sci. 22: 463-465, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3759432/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3759432</a>]" pmid="3759432">Granot et al. (1986)</a> reported an Arab child in whom the diagnosis of partial CPS deficiency was first made when she presented at 9 years of age with hyperammonemic coma simulating Reye syndrome. Despite intensive therapy directed toward lowering of ammonia levels, she sustained irreversible brain damage. History showed that on the seventh day of life, the child developed seizures for which phenobarbitone was administered. Her psychomotor development was slow. She attended a regular school but was a below-average student. She was on a regular diet with no apparent aversion to protein. At the age of 6 years she began to experience episodes of vomiting, mild abdominal pain, and muscle weakness. These episodes were not associated with any intercurrent infection or dietary change; they lasted for 2 or 3 days and occurred up to 3 times a year. During these attacks she remained mentally alert. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3759432" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#24" class="mim-tip-reference" title="Verbiest, H. B. C., Straver, J. S., Colombo, J. P., van der Vijver, J. C. M., van Woerkom, T. C. A. M. <strong>Carbamyl phosphate synthetase-1 deficiency discovered after valproic acid-induced coma.</strong> Acta Neurol. Scand. 86: 275-279, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1414247/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1414247</a>] [<a href="https://doi.org/10.1111/j.1600-0404.1992.tb05085.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1414247">Verbiest et al. (1992)</a> described a 32-year-old woman who was first discovered to have CPS I deficiency when investigated after valproic acid-induced coma. Valproic acid had been added to the regimen for control of generalized seizures a few days before the development of coma. The seizures were attributed to head trauma at the age of 16. 'Valproate sensitivity' has been observed also with ornithine transcarbamylase deficiency and citrullinemia, 2 other causes of hyperammonemia. <a href="#25" class="mim-tip-reference" title="Wong, L.-J. C., Craigen, W. J., O'Brien, W. E. <strong>Postpartum coma and death due to carbamoyl-phosphate synthetase I deficiency.</strong> Ann. Intern. Med. 120: 216-217, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8273985/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8273985</a>] [<a href="https://doi.org/10.7326/0003-4819-120-3-199402010-00007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8273985">Wong et al. (1994)</a> described a 26-year-old college graduate and teacher who presented with coma after childbirth and was found to have CPS I deficiency. Ten hours after delivery of her only pregnancy, she became disoriented and agitated and progressed within a few hours to coma and decerebrate posturing. Within 24 hours, she developed generalized tonic-clonic seizures. Three days after delivery she was flaccid, did not have spontaneous respiration, and had diabetes insipidus. Urinary orotic acid level was somewhat elevated. She was declared dead at 3 days after delivery at which time EEG showed no cerebral electrical activity. The history reported by the authors indicated that she had been on a self-selected diet with little or no meat or dairy products and that she had occasionally complained of spells of confusion and disorientation and had been diagnosed as having complex partial seizures. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8273985+1414247" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Batshaw, M. L., Tuchman, M., Summar, M., Seminara, J., Members of the Urea Cycle Disorders Consortium. <strong>A longitudinal study of urea cycle disorders.</strong> Molec. Genet. Metab. 113: 127-130, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25135652/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25135652</a>] [<a href="https://doi.org/10.1016/j.ymgme.2014.08.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25135652">Batshaw et al. (2014)</a> reported the results of an analysis of 614 patients with urea cycle disorders (UCDs) enrolled in the Urea Cycle Disorders Consortium's longitudinal study protocol. Carbamyl phosphate synthetase deficiency was found in 17 individuals (3%). <a href="#3" class="mim-tip-reference" title="Batshaw, M. L., Tuchman, M., Summar, M., Seminara, J., Members of the Urea Cycle Disorders Consortium. <strong>A longitudinal study of urea cycle disorders.</strong> Molec. Genet. Metab. 113: 127-130, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25135652/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25135652</a>] [<a href="https://doi.org/10.1016/j.ymgme.2014.08.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25135652">Batshaw et al. (2014)</a> found the risk of mortality (neonatal plus late onset) to be 42%. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25135652" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a review of inherited metabolic disorders and stroke, <a href="#22" class="mim-tip-reference" title="Testai, F. D., Gorelick, P. B. <strong>Inherited metabolic disorders and stroke part 2: homocystinuria, organic acidurias, and urea cycle disorders.</strong> Arch. Neurol. 67: 148-153, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20142522/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20142522</a>] [<a href="https://doi.org/10.1001/archneurol.2009.333" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20142522">Testai and Gorelick (2010)</a> noted that patients with urea cycle defects, including CPS1 deficiency, OTC deficiency (<a href="/entry/311250">311250</a>), and citrullinemia (<a href="/entry/215700">215700</a>) can rarely have strokes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20142522" 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="#19" class="mim-tip-reference" title="McReynolds, J. W., Crowley, B., Mahoney, M. J., Rosenberg, L. E. <strong>Autosomal recessive inheritance of human mitochondrial carbamyl phosphate synthetase deficiency.</strong> Am. J. Hum. Genet. 33: 345-353, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7246541/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7246541</a>]" pmid="7246541">McReynolds et al. (1981)</a> showed that hepatic mitochondrial carbamoyl phosphate synthetase deficiency is autosomal recessive: in liver biopsy material, they showed that 2 affected sisters had markedly reduced enzyme activity (about 6% of normal), while their normal brother had normal levels and their unaffected parents had intermediate levels (32% and 54% of normal). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7246541" 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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By chorionic villus sampling, <a href="#7" class="mim-tip-reference" title="Finckh, U., Kohlschutter, A., Schafer, H., Sperhake, K., Colombo, J.-P., Gal, A. <strong>Prenatal diagnosis of carbamoyl phosphate synthetase I deficiency by identification of a missense mutation in CPS1.</strong> Hum. Mutat. 12: 206-211, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9711878/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9711878</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(1998)12:3<206::AID-HUMU8>3.0.CO;2-E" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9711878">Finckh et al. (1998)</a> diagnosed a 12-week-old fetus with CPS I deficiency. Pathologic examination of the fetal liver showed hepatocellular changes consistent with the disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9711878" 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="#2" class="mim-tip-reference" title="Batshaw, M. L., Brusilow, S., Waber, L., Blom, W., Brubakk, A. M., Burton, B. K., Cann, H. M., Kerr, D., Mamunes, P., Matalon, R., Myerberg, D., Schafer, I. A. <strong>Treatment of inborn errors of urea synthesis: activation of alternative pathways of waste nitrogen synthesis and excretion.</strong> New Eng. J. Med. 306: 1387-1392, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7078580/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7078580</a>] [<a href="https://doi.org/10.1056/NEJM198206103062303" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7078580">Batshaw et al. (1982)</a> reported on therapy of 26 patients with inborn errors of urea synthesis by activation of alternative pathways of waste nitrogen synthesis and excretion. In 7 with deficiency of argininosuccinate synthetase (citrullinemia) and 10 with deficiency of argininosuccinate lyase (argininosuccinic aciduria), excretion of citrulline and argininosuccinate served as waste nitrogen products because they contain nitrogen normally destined for urea synthesis; synthesis and excretion of these substances was enhanced by arginine supplementation. Administration of sodium benzoate further diverted ammonium nitrogen from the defective urea pathway to hippurate synthesis by way of the glycine cleavage complex in the above 2 disorders as well as in ornithine transcarbamylase deficiency and hyperammonemia due to carbamoyl phosphate synthetase deficiency. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7078580" 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="Brusilow, S. W., Danney, M., Waber, L. J., Batshaw, M., Burton, B., Levitsky, L., Roth, K., McKeethren, C., Ward, J. <strong>Treatment of episodic hyperammonemia in children with inborn errors of urea synthesis.</strong> New Eng. J. Med. 310: 1630-1634, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6427608/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6427608</a>] [<a href="https://doi.org/10.1056/NEJM198406213102503" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6427608">Brusilow et al. (1984)</a> reported the successful treatment of episodic hyperammonemia in children with carbamoyl phosphate synthetase deficiency, ornithine transcarbamylase deficiency, and citrullinemia. Treatment made use of intravenous sodium benzoate, sodium phenylacetate and arginine, nitrogen-free intravenous alimentation, and, when other measures failed, dialysis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6427608" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a newborn Japanese girl with CPS I deficiency (<a href="/entry/237300">237300</a>), <a href="#13" class="mim-tip-reference" title="Hoshide, R., Matsuura, T., Haraguchi, Y., Endo, F., Yoshinaga, M., Matsuda, I. <strong>Carbamyl phosphate synthetase I deficiency: one base substitution in an exon of the CPS I gene causes a 9-basepair deletion due to aberrant splicing.</strong> J. Clin. Invest. 91: 1884-1887, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8486760/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8486760</a>] [<a href="https://doi.org/10.1172/JCI116405" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8486760">Hoshide et al. (1993)</a> identified a homozygous missense mutation in the CPS1 gene (<a href="/entry/608307#0001">608307.0001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8486760" 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 16 of 18 Japanese patients with a clinical diagnosis of CPS I deficiency, <a href="#17" class="mim-tip-reference" title="Kurokawa, K., Yorifuji, T., Kawai, M., Momoi, T., Nagasaka, H., Takayanagi, M., Kobayashi, K., Yoshino, M., Kosho, T., Adachi, M., Otsuka, H., Yamamoto, S., and 11 others. <strong>Molecular and clinical analyses of Japanese patients with carbamoylphosphate synthetase 1 (CPS1) deficiency.</strong> J. Hum. Genet. 52: 349-354, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17310273/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17310273</a>] [<a href="https://doi.org/10.1007/s10038-007-0122-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17310273">Kurokawa et al. (2007)</a> identified 25 different mutations in the CPS1 gene, including 19 novel mutations (see, e.g., <a href="/entry/608307#0007">608307.0007</a>-<a href="/entry/608307#0009">608307.0009</a>). Two patients with confirmed CPS I deficiency had later onset at ages 13 and 31 years, respectively. Genotype/phenotype correlations were not observed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17310273" 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>By analyzing tissue and DNA samples from 205 individuals with CPS I deficiency spanning 24 years, <a href="#11" class="mim-tip-reference" title="Haberle, J., Shchelochkov, O. A., Wang, J., Katsonis, P., Hall, L., Reiss, S., Eeds, A., Willis, A., Yadav, M., Summar, S., the Urea Cycle Disorders Consortium, Lichtarge, O., Rubio, V., Wong, L.-J., Summar, M. <strong>Molecular defects in human carbamoyl phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerations.</strong> Hum. Mutat. 32: 579-589, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21120950/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21120950</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21120950[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/humu.21406" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21120950">Haberle et al. (2011)</a> identified 192 different pathogenic mutations in the CPS1 gene, including 130 novel mutations. When combined with previously reported mutations, it was clear that most mutations (90%) were private, occurring in only 1 family each. The few recurrent mutations tended to occur at CpG dinucleotides. Most missense mutations occurred around exon 24, at the boundary between both homologous halves of the region encoding the 120-kD catalytic moiety of the enzyme. Mutations also clustered at the bicarbonate and carbamate phosphorylation domains, at the NAG cofactor binding domain, and at the interface between the large and small subunit-like moieties. Comparative modeling using the E. coli enzyme showed that the location of missense mutations correlated with evolutionary importance and included internal residues, suggesting that they affect protein folding. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21120950" 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="#15" class="mim-tip-reference" title="Klaus, V., Vermeulen, T., Minassian, B., Israelian, N., Engel, K., Lund, A. M., Roebrock, K., Christensen, E., Haberle, J. <strong>Highly variable clinical phenotype of carbamylphosphate synthetase 1 deficiency in one family: an effect of allelic variation in gene expression?</strong> Clin. Genet. 76: 263-269, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19793055/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19793055</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2009.01216.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19793055">Klaus et al. (2009)</a> reported a man and his grandson, who were of Lebanese origin, with variable clinical manifestations of CPS I deficiency despite having the same genotype. The man presented at age 45 years with episodes of confusion and bizarre behavior. He was initially thought to have some form of epileptic encephalopathy, until an elevated ammonia level led to further metabolic investigations consistent with CPS I deficiency. History revealed that he had voluntarily been on a low-protein diet for most of his life, and his acute illness was managed. His grandson presented at 2 days of age with life-threatening neonatal hyperammonemia with encephalopathy, respiratory alkalosis, and dehydration. He had elevated ammonia and metabolic studies suggesting a proximal urea cycle disorder. At age 3 years, the boy died during pneumonia. CPS1 sequencing of both patients showed that both were compound heterozygous for 2 splice site mutations (<a href="/entry/608307#0010">608307.0010</a> and <a href="/entry/608307#0011">608307.0011</a>). Cloning experiments in E. coli indicated that the proportioning of the allelic expression was different between the 2 patients: the more severely affected grandson had a skewed 3-fold higher expression of 1 of the mutations compared to his grandfather, who had equal expression of both mutations. Although the mechanism for this skewing of allelic expression was unclear, <a href="#15" class="mim-tip-reference" title="Klaus, V., Vermeulen, T., Minassian, B., Israelian, N., Engel, K., Lund, A. M., Roebrock, K., Christensen, E., Haberle, J. <strong>Highly variable clinical phenotype of carbamylphosphate synthetase 1 deficiency in one family: an effect of allelic variation in gene expression?</strong> Clin. Genet. 76: 263-269, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19793055/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19793055</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2009.01216.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19793055">Klaus et al. (2009)</a> concluded that it contributed to the clinical variability in this family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19793055" 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="#20" class="mim-tip-reference" title="Nagata, N., Matsuda, I., Oyanagi, K. <strong>Estimated frequency of urea cycle enzymopathies in Japan. (Letter)</strong> Am. J. Med. Genet. 39: 228-229, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2063931/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2063931</a>] [<a href="https://doi.org/10.1002/ajmg.1320390226" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2063931">Nagata et al. (1991)</a> estimated that the incidence of CPS I deficiency in Japan is 1 in 800,000. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2063931" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>The prevalence of CPS I deficiency is estimated to be between 1 in 200,000 to 1 in 800,000 (<a href="#22" class="mim-tip-reference" title="Testai, F. D., Gorelick, P. B. <strong>Inherited metabolic disorders and stroke part 2: homocystinuria, organic acidurias, and urea cycle disorders.</strong> Arch. Neurol. 67: 148-153, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20142522/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20142522</a>] [<a href="https://doi.org/10.1001/archneurol.2009.333" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20142522">Testai and Gorelick, 2010</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20142522" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#Batshaw1975" class="mim-tip-reference" title="Batshaw, M., Brusilow, S., Walser, M. <strong>Treatment of carbamoyl-phosphate-synthetase deficiency with keto analogues of essential amino acids.</strong> New Eng. J. Med. 292: 1085-1090, 1975.">Batshaw et al. (1975)</a>; <a href="#Farriaux1977" class="mim-tip-reference" title="Farriaux, J.-P., Ponte, C., Pollitt, R. J., Lequien, P., Formstecher, P., Dhondt, J. P. <strong>Carbamyl-phosphate-synthetase deficiency with neonatal onset of symptoms.</strong> Acta Paediat. Scand. 66: 529-534, 1977.">Farriaux et al. (1977)</a>; <a href="#Jackson1986" class="mim-tip-reference" title="Jackson, M. J., Beaudet, A. L., O'Brien, W. E. <strong>Mammalian urea cycle enzymes.</strong> Annu. Rev. Genet. 20: 431-464, 1986.">Jackson et al. (1986)</a>; <a href="#Kline1981" class="mim-tip-reference" title="Kline, J. J., Hug, G., Schubert, W. K., Berry, H. <strong>Arginine deficiency syndrome: its occurrence in carbamyl phosphate synthetase deficiency.</strong> Am. J. Dis. Child. 135: 437-442, 1981.">Kline et al. (1981)</a>; <a href="#Mantagos1978" class="mim-tip-reference" title="Mantagos, S., Tsagaraki, S., Burgess, A., Oberholzer, V., Palmer, T., Sacks, J., Baibas, S., Valaes, T. <strong>Neonatal hyperammonaemia with complete absence of liver carbamyl phosphate synthetase activity.</strong> Arch. Dis. Child. 53: 230-234, 1978.">Mantagos et al. (1978)</a>; <a href="#van1983" class="mim-tip-reference" title="van der Heiden, C., Beemer, F. A., van Dijk, H. A., Desplanque, J., Gerards, L. J. <strong>A lethal neonatal variant of carbamoyl-phosphate synthetase deficiency in combination with an intermediate activity of L-ornithine:2-oxoglutarate aminotransferase.</strong> Clin. Genet. 23: 363-368, 1983.">van der Heiden et al.
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Batshaw, M., Brusilow, S., Walser, M.
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<strong>Treatment of carbamoyl-phosphate-synthetase deficiency with keto analogues of essential amino acids.</strong>
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New Eng. J. Med. 292: 1085-1090, 1975.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/165404/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">165404</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=165404" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1056/NEJM197505222922101" target="_blank">Full Text</a>]
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Batshaw, M. L., Brusilow, S., Waber, L., Blom, W., Brubakk, A. M., Burton, B. K., Cann, H. M., Kerr, D., Mamunes, P., Matalon, R., Myerberg, D., Schafer, I. A.
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<strong>Treatment of inborn errors of urea synthesis: activation of alternative pathways of waste nitrogen synthesis and excretion.</strong>
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New Eng. J. Med. 306: 1387-1392, 1982.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7078580/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7078580</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7078580" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Batshaw, M. L., Tuchman, M., Summar, M., Seminara, J., Members of the Urea Cycle Disorders Consortium.
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<strong>A longitudinal study of urea cycle disorders.</strong>
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Molec. Genet. Metab. 113: 127-130, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25135652/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25135652</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25135652" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Brusilow, S. W., Danney, M., Waber, L. J., Batshaw, M., Burton, B., Levitsky, L., Roth, K., McKeethren, C., Ward, J.
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<strong>Treatment of episodic hyperammonemia in children with inborn errors of urea synthesis.</strong>
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New Eng. J. Med. 310: 1630-1634, 1984.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6427608/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6427608</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6427608" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<strong>Neuropathological observations in a patient with carbamyl-phosphate-synthetase deficiency and in two sibs.</strong>
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Arch. Dis. Child. 47: 47-51, 1972.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4111816/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4111816</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4111816" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Farriaux, J.-P., Ponte, C., Pollitt, R. J., Lequien, P., Formstecher, P., Dhondt, J. P.
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<strong>Carbamyl-phosphate-synthetase deficiency with neonatal onset of symptoms.</strong>
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Acta Paediat. Scand. 66: 529-534, 1977.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/197778/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">197778</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=197778" 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/j.1651-2227.1977.tb07940.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1001/archneur.1970.00480290050006" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1056/NEJM197402212900804" target="_blank">Full Text</a>]
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Verbiest, H. B. C., Straver, J. S., Colombo, J. P., van der Vijver, J. C. M., van Woerkom, T. C. A. M.
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<strong>Carbamyl phosphate synthetase-1 deficiency discovered after valproic acid-induced coma.</strong>
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Acta Neurol. Scand. 86: 275-279, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1414247/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1414247</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1414247" 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/j.1600-0404.1992.tb05085.x" target="_blank">Full Text</a>]
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<a id="Wong1994" class="mim-anchor"></a>
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<p class="mim-text-font">
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Wong, L.-J. C., Craigen, W. J., O'Brien, W. E.
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<strong>Postpartum coma and death due to carbamoyl-phosphate synthetase I deficiency.</strong>
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Ann. Intern. Med. 120: 216-217, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8273985/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8273985</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8273985" 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/10.7326/0003-4819-120-3-199402010-00007" target="_blank">Full Text</a>]
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Ada Hamosh - updated : 1/8/2015
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Cassandra L. Kniffin - updated : 11/22/2011<br>Cassandra L. Kniffin - updated : 1/31/2011<br>Cassandra L. Kniffin - updated : 10/11/2010<br>Cassandra L. Kniffin - updated : 5/15/2007<br>Cassandra L. Kniffin - reorganized : 12/4/2003<br>Victor A. McKusick - updated : 3/19/2002<br>Victor A. McKusick - updated : 1/12/2000<br>Victor A. McKusick - updated : 8/13/1998<br>Victor A. McKusick - updated : 6/27/1997
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Creation Date:
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Victor A. McKusick : 6/3/1986
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carol : 03/30/2022
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carol : 03/29/2022<br>alopez : 12/20/2021<br>carol : 06/21/2016<br>alopez : 1/8/2015<br>carol : 12/1/2011<br>ckniffin : 11/22/2011<br>ckniffin : 11/22/2011<br>wwang : 2/24/2011<br>ckniffin : 1/31/2011<br>wwang : 10/29/2010<br>terry : 10/12/2010<br>ckniffin : 10/11/2010<br>wwang : 5/21/2007<br>ckniffin : 5/15/2007<br>terry : 4/20/2005<br>carol : 12/4/2003<br>ckniffin : 12/3/2003<br>cwells : 4/5/2002<br>cwells : 3/22/2002<br>terry : 3/19/2002<br>mgross : 2/1/2000<br>terry : 1/12/2000<br>carol : 5/26/1999<br>carol : 8/14/1998<br>terry : 8/13/1998<br>terry : 8/13/1998<br>terry : 6/4/1998<br>alopez : 7/8/1997<br>terry : 6/27/1997<br>mark : 1/28/1996<br>terry : 1/23/1996<br>mark : 8/21/1995<br>terry : 8/3/1995<br>mimadm : 4/18/1994<br>carol : 3/25/1994<br>carol : 12/22/1993<br>carol : 6/4/1993
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<strong>#</strong> 237300
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<h3>
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CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIA DUE TO
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CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY<br />
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CPS I DEFICIENCY
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<strong>SNOMEDCT:</strong> 765329008;
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<strong>ORPHA:</strong> 147;
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<strong>DO:</strong> 9280;
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<strong>Phenotype-Gene Relationships</strong>
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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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2q34
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<span class="mim-font">
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Carbamoylphosphate synthetase I deficiency
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<span class="mim-font">
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237300
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<span class="mim-font">
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Autosomal recessive
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<span class="mim-font">
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3
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CPS1
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608307
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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 hyperammonemia due to carbamoyl phosphate synthetase I deficiency is caused by homozygous or compound heterozygous mutation in the CPS1 gene (608307) on chromosome 2q34.</p>
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<strong>Description</strong>
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<p>Carbamoyl phosphate synthetase I deficiency is an autosomal recessive inborn error of metabolism of the urea cycle which causes hyperammonemia. There are 2 main forms: a lethal neonatal type and a less severe, delayed-onset type (summary by Klaus et al., 2009). </p><p>Urea cycle disorders are characterized by the triad of hyperammonemia, encephalopathy, and respiratory alkalosis. Five disorders involving different defects in the biosynthesis of the enzymes of the urea cycle have been described: ornithine transcarbamylase deficiency (311250), carbamyl phosphate synthetase deficiency, argininosuccinate synthetase deficiency, or citrullinemia (215700), argininosuccinate lyase deficiency (207900), and arginase deficiency (207800).</p>
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<strong>Clinical Features</strong>
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<p><strong><em>Early-Onset Form</em></strong></p><p>
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This disorder was first reported by Freeman et al. (1970) in a patient with congenital hyperammonemia and decreased levels of carbamoyl phosphate synthetase. A family with 3 affected sibs was reported by Hommes et al. (1969) and by Ebels (1972). One affected infant had severe cerebral damage. Gelehrter and Snodgrass (1974) reported a case and commented on the fact that it is mitochondrial carbamoyl phosphate synthetase that is deficient in this condition. </p><p>Suzuki et al. (1986) described a female infant with CPS I deficiency who died on the ninth postnatal day. They could detect no enzyme protein or mRNA activity for CPS I. </p><p>Finckh et al. (1998) reported a male infant with severe CPS I deficiency who died at 11 days of age. The parents were consanguineous. Three days after normal term delivery, he developed hyperammonemic coma. Histopathologic examination of the liver showed diffuse microvesicular steatosis, distinct focal hepatocellular and Kupffer cell glycogenosis, and no enzymatic CPS I activity. A mutation in the CPS1 gene was detected (608307.0002). </p><p><strong><em>Delayed-Onset Form</em></strong></p><p>
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Granot et al. (1986) reported an Arab child in whom the diagnosis of partial CPS deficiency was first made when she presented at 9 years of age with hyperammonemic coma simulating Reye syndrome. Despite intensive therapy directed toward lowering of ammonia levels, she sustained irreversible brain damage. History showed that on the seventh day of life, the child developed seizures for which phenobarbitone was administered. Her psychomotor development was slow. She attended a regular school but was a below-average student. She was on a regular diet with no apparent aversion to protein. At the age of 6 years she began to experience episodes of vomiting, mild abdominal pain, and muscle weakness. These episodes were not associated with any intercurrent infection or dietary change; they lasted for 2 or 3 days and occurred up to 3 times a year. During these attacks she remained mentally alert. </p><p>Verbiest et al. (1992) described a 32-year-old woman who was first discovered to have CPS I deficiency when investigated after valproic acid-induced coma. Valproic acid had been added to the regimen for control of generalized seizures a few days before the development of coma. The seizures were attributed to head trauma at the age of 16. 'Valproate sensitivity' has been observed also with ornithine transcarbamylase deficiency and citrullinemia, 2 other causes of hyperammonemia. Wong et al. (1994) described a 26-year-old college graduate and teacher who presented with coma after childbirth and was found to have CPS I deficiency. Ten hours after delivery of her only pregnancy, she became disoriented and agitated and progressed within a few hours to coma and decerebrate posturing. Within 24 hours, she developed generalized tonic-clonic seizures. Three days after delivery she was flaccid, did not have spontaneous respiration, and had diabetes insipidus. Urinary orotic acid level was somewhat elevated. She was declared dead at 3 days after delivery at which time EEG showed no cerebral electrical activity. The history reported by the authors indicated that she had been on a self-selected diet with little or no meat or dairy products and that she had occasionally complained of spells of confusion and disorientation and had been diagnosed as having complex partial seizures. </p><p>Batshaw et al. (2014) reported the results of an analysis of 614 patients with urea cycle disorders (UCDs) enrolled in the Urea Cycle Disorders Consortium's longitudinal study protocol. Carbamyl phosphate synthetase deficiency was found in 17 individuals (3%). Batshaw et al. (2014) found the risk of mortality (neonatal plus late onset) to be 42%. </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Other Features</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In a review of inherited metabolic disorders and stroke, Testai and Gorelick (2010) noted that patients with urea cycle defects, including CPS1 deficiency, OTC deficiency (311250), and citrullinemia (215700) can rarely have strokes. </p>
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<h4>
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<span class="mim-font">
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<strong>Inheritance</strong>
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<span class="mim-text-font">
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<p>McReynolds et al. (1981) showed that hepatic mitochondrial carbamoyl phosphate synthetase deficiency is autosomal recessive: in liver biopsy material, they showed that 2 affected sisters had markedly reduced enzyme activity (about 6% of normal), while their normal brother had normal levels and their unaffected parents had intermediate levels (32% and 54% of normal). </p>
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<strong>Diagnosis</strong>
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<p><strong><em>Prenatal Diagnosis</em></strong></p><p>
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By chorionic villus sampling, Finckh et al. (1998) diagnosed a 12-week-old fetus with CPS I deficiency. Pathologic examination of the fetal liver showed hepatocellular changes consistent with the disorder. </p>
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<strong>Clinical Management</strong>
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<span class="mim-text-font">
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<p>Batshaw et al. (1982) reported on therapy of 26 patients with inborn errors of urea synthesis by activation of alternative pathways of waste nitrogen synthesis and excretion. In 7 with deficiency of argininosuccinate synthetase (citrullinemia) and 10 with deficiency of argininosuccinate lyase (argininosuccinic aciduria), excretion of citrulline and argininosuccinate served as waste nitrogen products because they contain nitrogen normally destined for urea synthesis; synthesis and excretion of these substances was enhanced by arginine supplementation. Administration of sodium benzoate further diverted ammonium nitrogen from the defective urea pathway to hippurate synthesis by way of the glycine cleavage complex in the above 2 disorders as well as in ornithine transcarbamylase deficiency and hyperammonemia due to carbamoyl phosphate synthetase deficiency. </p><p>Brusilow et al. (1984) reported the successful treatment of episodic hyperammonemia in children with carbamoyl phosphate synthetase deficiency, ornithine transcarbamylase deficiency, and citrullinemia. Treatment made use of intravenous sodium benzoate, sodium phenylacetate and arginine, nitrogen-free intravenous alimentation, and, when other measures failed, dialysis. </p>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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<p>In a newborn Japanese girl with CPS I deficiency (237300), Hoshide et al. (1993) identified a homozygous missense mutation in the CPS1 gene (608307.0001). </p><p>In 16 of 18 Japanese patients with a clinical diagnosis of CPS I deficiency, Kurokawa et al. (2007) identified 25 different mutations in the CPS1 gene, including 19 novel mutations (see, e.g., 608307.0007-608307.0009). Two patients with confirmed CPS I deficiency had later onset at ages 13 and 31 years, respectively. Genotype/phenotype correlations were not observed. </p><p>By analyzing tissue and DNA samples from 205 individuals with CPS I deficiency spanning 24 years, Haberle et al. (2011) identified 192 different pathogenic mutations in the CPS1 gene, including 130 novel mutations. When combined with previously reported mutations, it was clear that most mutations (90%) were private, occurring in only 1 family each. The few recurrent mutations tended to occur at CpG dinucleotides. Most missense mutations occurred around exon 24, at the boundary between both homologous halves of the region encoding the 120-kD catalytic moiety of the enzyme. Mutations also clustered at the bicarbonate and carbamate phosphorylation domains, at the NAG cofactor binding domain, and at the interface between the large and small subunit-like moieties. Comparative modeling using the E. coli enzyme showed that the location of missense mutations correlated with evolutionary importance and included internal residues, suggesting that they affect protein folding. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Genotype/Phenotype Correlations</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Klaus et al. (2009) reported a man and his grandson, who were of Lebanese origin, with variable clinical manifestations of CPS I deficiency despite having the same genotype. The man presented at age 45 years with episodes of confusion and bizarre behavior. He was initially thought to have some form of epileptic encephalopathy, until an elevated ammonia level led to further metabolic investigations consistent with CPS I deficiency. History revealed that he had voluntarily been on a low-protein diet for most of his life, and his acute illness was managed. His grandson presented at 2 days of age with life-threatening neonatal hyperammonemia with encephalopathy, respiratory alkalosis, and dehydration. He had elevated ammonia and metabolic studies suggesting a proximal urea cycle disorder. At age 3 years, the boy died during pneumonia. CPS1 sequencing of both patients showed that both were compound heterozygous for 2 splice site mutations (608307.0010 and 608307.0011). Cloning experiments in E. coli indicated that the proportioning of the allelic expression was different between the 2 patients: the more severely affected grandson had a skewed 3-fold higher expression of 1 of the mutations compared to his grandfather, who had equal expression of both mutations. Although the mechanism for this skewing of allelic expression was unclear, Klaus et al. (2009) concluded that it contributed to the clinical variability in this family. </p>
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</span>
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<div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Population Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Nagata et al. (1991) estimated that the incidence of CPS I deficiency in Japan is 1 in 800,000. </p><p>The prevalence of CPS I deficiency is estimated to be between 1 in 200,000 to 1 in 800,000 (Testai and Gorelick, 2010). </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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Batshaw et al. (1975); Farriaux et al. (1977); Jackson et al. (1986);
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Kline et al. (1981); Mantagos et al. (1978); van der Heiden et al.
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(1983)
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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<strong>Treatment of carbamoyl-phosphate-synthetase deficiency with keto analogues of essential amino acids.</strong>
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New Eng. J. Med. 292: 1085-1090, 1975.
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[PubMed: 165404]
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<p class="mim-text-font">
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Batshaw, M. L., Brusilow, S., Waber, L., Blom, W., Brubakk, A. M., Burton, B. K., Cann, H. M., Kerr, D., Mamunes, P., Matalon, R., Myerberg, D., Schafer, I. A.
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<strong>Treatment of inborn errors of urea synthesis: activation of alternative pathways of waste nitrogen synthesis and excretion.</strong>
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Batshaw, M. L., Tuchman, M., Summar, M., Seminara, J., Members of the Urea Cycle Disorders Consortium.
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Farriaux, J.-P., Ponte, C., Pollitt, R. J., Lequien, P., Formstecher, P., Dhondt, J. P.
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<strong>Carbamyl-phosphate-synthetase deficiency with neonatal onset of symptoms.</strong>
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Acta Paediat. Scand. 66: 529-534, 1977.
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[PubMed: 197778]
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[Full Text: https://doi.org/10.1111/j.1651-2227.1977.tb07940.x]
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Finckh, U., Kohlschutter, A., Schafer, H., Sperhake, K., Colombo, J.-P., Gal, A.
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<strong>Prenatal diagnosis of carbamoyl phosphate synthetase I deficiency by identification of a missense mutation in CPS1.</strong>
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Hum. Mutat. 12: 206-211, 1998.
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[PubMed: 9711878]
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[Full Text: https://doi.org/10.1002/(SICI)1098-1004(1998)12:3<206::AID-HUMU8>3.0.CO;2-E]
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Freeman, J. M., Nicholson, J. F., Schimke, R. T., Rowland, L. P., Carter, S.
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<strong>Congenital hyperammonemia: association with hyperglycinemia and decreased levels of carbamyl phosphate synthetase.</strong>
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Arch. Neurol. 23: 430-437, 1970.
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[PubMed: 5471650]
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[Full Text: https://doi.org/10.1001/archneur.1970.00480290050006]
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<strong>Lethal neonatal deficiency of carbamyl phosphate synthetase.</strong>
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New Eng. J. Med. 290: 430-433, 1974.
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[PubMed: 4811018]
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[Full Text: https://doi.org/10.1056/NEJM197402212900804]
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Granot, E., Matoth, I., Lotan, C., Shvil, Y., Lijovetzky, G., Yatziv, S.
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<strong>Partial carbamyl phosphate synthetase deficiency, simulating Reye's syndrome, in a 9-year-old girl.</strong>
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Isr. J. Med. Sci. 22: 463-465, 1986.
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[PubMed: 3759432]
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<p class="mim-text-font">
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Haberle, J., Shchelochkov, O. A., Wang, J., Katsonis, P., Hall, L., Reiss, S., Eeds, A., Willis, A., Yadav, M., Summar, S., the Urea Cycle Disorders Consortium, Lichtarge, O., Rubio, V., Wong, L.-J., Summar, M.
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<strong>Molecular defects in human carbamoyl phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerations.</strong>
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Hum. Mutat. 32: 579-589, 2011.
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[PubMed: 21120950]
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[Full Text: https://doi.org/10.1002/humu.21406]
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Hommes, F. A., De Groot, C. J., Wilmink, C. W., Jonxis, J. H. P.
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<strong>Carbamylphosphate synthetase deficiency in an infant with severe cerebral damage.</strong>
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Arch. Dis. Child. 44: 688-693, 1969.
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[PubMed: 5356974]
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[Full Text: https://doi.org/10.1136/adc.44.238.688]
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Hoshide, R., Matsuura, T., Haraguchi, Y., Endo, F., Yoshinaga, M., Matsuda, I.
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<strong>Carbamyl phosphate synthetase I deficiency: one base substitution in an exon of the CPS I gene causes a 9-basepair deletion due to aberrant splicing.</strong>
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J. Clin. Invest. 91: 1884-1887, 1993.
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[PubMed: 8486760]
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[Full Text: https://doi.org/10.1172/JCI116405]
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<p class="mim-text-font">
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Jackson, M. J., Beaudet, A. L., O'Brien, W. E.
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<strong>Mammalian urea cycle enzymes.</strong>
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Annu. Rev. Genet. 20: 431-464, 1986.
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[PubMed: 3545062]
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[Full Text: https://doi.org/10.1146/annurev.ge.20.120186.002243]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Klaus, V., Vermeulen, T., Minassian, B., Israelian, N., Engel, K., Lund, A. M., Roebrock, K., Christensen, E., Haberle, J.
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<strong>Highly variable clinical phenotype of carbamylphosphate synthetase 1 deficiency in one family: an effect of allelic variation in gene expression?</strong>
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Clin. Genet. 76: 263-269, 2009.
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[PubMed: 19793055]
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[Full Text: https://doi.org/10.1111/j.1399-0004.2009.01216.x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Kline, J. J., Hug, G., Schubert, W. K., Berry, H.
|
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<strong>Arginine deficiency syndrome: its occurrence in carbamyl phosphate synthetase deficiency.</strong>
|
|
Am. J. Dis. Child. 135: 437-442, 1981.
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[PubMed: 7234771]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Kurokawa, K., Yorifuji, T., Kawai, M., Momoi, T., Nagasaka, H., Takayanagi, M., Kobayashi, K., Yoshino, M., Kosho, T., Adachi, M., Otsuka, H., Yamamoto, S., and 11 others.
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<strong>Molecular and clinical analyses of Japanese patients with carbamoylphosphate synthetase 1 (CPS1) deficiency.</strong>
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J. Hum. Genet. 52: 349-354, 2007.
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[PubMed: 17310273]
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[Full Text: https://doi.org/10.1007/s10038-007-0122-9]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Mantagos, S., Tsagaraki, S., Burgess, A., Oberholzer, V., Palmer, T., Sacks, J., Baibas, S., Valaes, T.
|
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<strong>Neonatal hyperammonaemia with complete absence of liver carbamyl phosphate synthetase activity.</strong>
|
|
Arch. Dis. Child. 53: 230-234, 1978.
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[PubMed: 206210]
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[Full Text: https://doi.org/10.1136/adc.53.3.230]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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McReynolds, J. W., Crowley, B., Mahoney, M. J., Rosenberg, L. E.
|
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<strong>Autosomal recessive inheritance of human mitochondrial carbamyl phosphate synthetase deficiency.</strong>
|
|
Am. J. Hum. Genet. 33: 345-353, 1981.
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[PubMed: 7246541]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Nagata, N., Matsuda, I., Oyanagi, K.
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<strong>Estimated frequency of urea cycle enzymopathies in Japan. (Letter)</strong>
|
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Am. J. Med. Genet. 39: 228-229, 1991.
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[PubMed: 2063931]
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[Full Text: https://doi.org/10.1002/ajmg.1320390226]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Suzuki, Y., Matsushima, A., Ohtake, A., Mori, M., Tatibana, M., Orii, T.
|
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<strong>Carbamyl phosphate synthetase I deficiency with no detectable mRNA activity.</strong>
|
|
Europ. J. Pediat. 145: 406-408, 1986.
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[PubMed: 3792387]
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[Full Text: https://doi.org/10.1007/BF00439249]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Testai, F. D., Gorelick, P. B.
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<strong>Inherited metabolic disorders and stroke part 2: homocystinuria, organic acidurias, and urea cycle disorders.</strong>
|
|
Arch. Neurol. 67: 148-153, 2010.
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[PubMed: 20142522]
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[Full Text: https://doi.org/10.1001/archneurol.2009.333]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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van der Heiden, C., Beemer, F. A., van Dijk, H. A., Desplanque, J., Gerards, L. J.
|
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<strong>A lethal neonatal variant of carbamoyl-phosphate synthetase deficiency in combination with an intermediate activity of L-ornithine:2-oxoglutarate aminotransferase.</strong>
|
|
Clin. Genet. 23: 363-368, 1983.
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[PubMed: 6851228]
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[Full Text: https://doi.org/10.1111/j.1399-0004.1983.tb00447.x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Verbiest, H. B. C., Straver, J. S., Colombo, J. P., van der Vijver, J. C. M., van Woerkom, T. C. A. M.
|
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<strong>Carbamyl phosphate synthetase-1 deficiency discovered after valproic acid-induced coma.</strong>
|
|
Acta Neurol. Scand. 86: 275-279, 1992.
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[PubMed: 1414247]
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[Full Text: https://doi.org/10.1111/j.1600-0404.1992.tb05085.x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Wong, L.-J. C., Craigen, W. J., O'Brien, W. E.
|
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<strong>Postpartum coma and death due to carbamoyl-phosphate synthetase I deficiency.</strong>
|
|
Ann. Intern. Med. 120: 216-217, 1994.
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[PubMed: 8273985]
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[Full Text: https://doi.org/10.7326/0003-4819-120-3-199402010-00007]
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</p>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<div class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Contributors:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
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Ada Hamosh - updated : 1/8/2015<br>Cassandra L. Kniffin - updated : 11/22/2011<br>Cassandra L. Kniffin - updated : 1/31/2011<br>Cassandra L. Kniffin - updated : 10/11/2010<br>Cassandra L. Kniffin - updated : 5/15/2007<br>Cassandra L. Kniffin - reorganized : 12/4/2003<br>Victor A. McKusick - updated : 3/19/2002<br>Victor A. McKusick - updated : 1/12/2000<br>Victor A. McKusick - updated : 8/13/1998<br>Victor A. McKusick - updated : 6/27/1997
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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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<br />
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</div>
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Victor A. McKusick : 6/3/1986
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carol : 03/30/2022<br>carol : 03/29/2022<br>alopez : 12/20/2021<br>carol : 06/21/2016<br>alopez : 1/8/2015<br>carol : 12/1/2011<br>ckniffin : 11/22/2011<br>ckniffin : 11/22/2011<br>wwang : 2/24/2011<br>ckniffin : 1/31/2011<br>wwang : 10/29/2010<br>terry : 10/12/2010<br>ckniffin : 10/11/2010<br>wwang : 5/21/2007<br>ckniffin : 5/15/2007<br>terry : 4/20/2005<br>carol : 12/4/2003<br>ckniffin : 12/3/2003<br>cwells : 4/5/2002<br>cwells : 3/22/2002<br>terry : 3/19/2002<br>mgross : 2/1/2000<br>terry : 1/12/2000<br>carol : 5/26/1999<br>carol : 8/14/1998<br>terry : 8/13/1998<br>terry : 8/13/1998<br>terry : 6/4/1998<br>alopez : 7/8/1997<br>terry : 6/27/1997<br>mark : 1/28/1996<br>terry : 1/23/1996<br>mark : 8/21/1995<br>terry : 8/3/1995<br>mimadm : 4/18/1994<br>carol : 3/25/1994<br>carol : 12/22/1993<br>carol : 6/4/1993
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