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Entry
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- #215700 - CITRULLINEMIA, CLASSIC
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- OMIM
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<p>
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<span class="h4">#215700</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/215700"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS215700"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#biochemicalFeatures">Biochemical Features</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="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#populationGenetics">Population Genetics</a>
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<a href="#animalModel">Animal Model</a>
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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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</ul>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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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>
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<div id="mimExternalLinksFold" class="collapse in">
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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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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div><a href="https://clinicaltrials.gov/search?cond=CITRULLINEMIA, CLASSIC" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="#mimEuroGentestFold" id="mimEuroGentestToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A list of European laboratories that offer genetic testing."><span id="mimEuroGentestToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>EuroGentest</div>
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<div id="mimEuroGentestFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=19524&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Citrullinemia type I </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=19525&Typ=Pat" title="Acute neonatal citrullinemia type I" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Acute neonatal citrullinem… </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=19526&Typ=Pat" title="Late-onset citrullinemia type I" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Late-onset citrullinemia t… </a></div>
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</div>
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<div><a href="#mimGeneReviewsFold" id="mimGeneReviewsToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling."><span id="mimGeneReviewsToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Gene Reviews</div>
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<div id="mimGeneReviewsFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.ncbi.nlm.nih.gov/books/NBK1217/" title="Urea Cycle Disorders Overview" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Urea Cycle Disorders Overv…</a></div><div style="margin-left: 0.5em;"><a href="https://www.ncbi.nlm.nih.gov/books/NBK1458/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Citrullinemia Type I</a></div>
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</div>
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<div><a href="https://www.diseaseinfosearch.org/x/1651" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=215700[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="#mimNewbornScreeningFold" id="mimNewbornScreeningToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="Information and resources for newborn screening and genetics."><span id="mimNewbornScreeningToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Newborn Screening</div>
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<div id="mimNewbornScreeningFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.acmg.net/PDFLibrary/Citrullinemia.pdf" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Newborn Screening', 'domain': 'www.acmg.net'})">ACMG ACT Sheet</a></div><div style="margin-left: 0.5em;"><a href="https://www.acmg.net/PDFLibrary/Citrulline-Algorithm.pdf" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Newborn Screening', 'domain': 'www.acmg.net'})">ACMG Algorithm</a></div>
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</div>
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<div><a href="#mimOrphanetFold" id="mimOrphanetToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="European reference portal for information on rare diseases and orphan drugs."><span id="mimOrphanetToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Orphanet</div>
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<div id="mimOrphanetFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=247525" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Citrullinemia type I</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=247546" title="Acute neonatal citrullinemia type I" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Acute neonatal citrullinem…</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=247573" title="Late-onset citrullinemia type I" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Late-onset citrullinemia t…</a></div>
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<span class="panel-title">
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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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</a>
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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:0070340" 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/215700" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://omia.org/OMIA000194/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</div>
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<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div><a href="https://catalog.coriell.org/Search?q=OmimNum:215700" 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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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<a id="title" class="mim-anchor"></a>
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<div>
|
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<a id="number" class="mim-anchor"></a>
|
|
<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> 1149103000, 124711003, 398680004<br />
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<strong>ICD10CM:</strong> E72.23<br />
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<strong>ORPHA:</strong> 247525, 247546, 247573<br />
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<strong>DO:</strong> 0070340<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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215700
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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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CITRULLINEMIA, CLASSIC
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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">
|
|
CITRULLINEMIA, TYPE I; CTLN1<br />
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|
CITRULLINURIA<br />
|
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ARGININOSUCCINATE SYNTHETASE DEFICIENCY<br />
|
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ASS 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">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
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</span>
|
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</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
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<th>
|
|
Location
|
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</th>
|
|
<th>
|
|
Phenotype
|
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</th>
|
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<th>
|
|
Phenotype <br /> MIM number
|
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</th>
|
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<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
<th>
|
|
Gene/Locus
|
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</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
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|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/9/577?start=-3&limit=10&highlight=577">
|
|
9q34.11
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Citrullinemia
|
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|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/215700"> 215700 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
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|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
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|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
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|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
ASS1
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603470"> 603470 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
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|
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<div>
|
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|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/215700" 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">
|
|
|
|
<a href="/phenotypicSeries/PS215700" class="btn btn-info" role="button"> Phenotypic Series </a>
|
|
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
|
|
<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/215700" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/215700" 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>
|
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|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
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|
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|
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|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GROWTH </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Other </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Failure to thrive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/432788009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">432788009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/54840006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">54840006</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/783.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">783.41</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0015544&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0015544</a>, <a href="https://bioportal.bioontology.org/search?q=C2315100&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2315100</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001508</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001508</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> ABDOMEN </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Liver </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hepatomegaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/80515008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">80515008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R16.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R16.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/789.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">789.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0019209&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0019209</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002240" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002240</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002240" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002240</a>]</span><br /> -
|
|
Cirrhosis (in late-onset cases) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/19943007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">19943007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K74.60" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K74.60</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0023890&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0023890</a>, <a href="https://bioportal.bioontology.org/search?q=C1623038&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1623038</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001394" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001394</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001394" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001394</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<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>
|
|
|
|
|
|
|
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|
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|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> NEUROLOGIC </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Central Nervous System </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- 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 /> -
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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 /> -
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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 /> -
|
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Seizures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/91175000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">91175000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0036572&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0036572</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001250</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001250</a>]</span><br /> -
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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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<span class="h5 mim-font">
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<em> Behavioral Psychiatric Manifestations </em>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- 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 />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
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<strong> METABOLIC FEATURES </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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|
- 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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High plasma citrulline (1000-5000 micromolar) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859085&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859085</a>]</span><br /> -
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High plasma glutamine <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839533&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839533</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003217" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003217</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003217" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003217</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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Orotic aciduria <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/47641009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">47641009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/124277009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">124277009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/69525003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">69525003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0268130&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0268130</a>, <a href="https://bioportal.bioontology.org/search?q=C0268128&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0268128</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003218" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003218</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003218" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003218</a>]</span><br /> -
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Hepatic argininosuccinate synthetase deficiency <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859086&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859086</a>]</span><br />
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<span class="h5 mim-font">
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<strong> MISCELLANEOUS </strong>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Highly variable phenotype <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839039&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839039</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003812" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003812</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003812" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003812</a>]</span><br /> -
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Incidence of 1 in 57,000<br /> -
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Prevalence of 1 in 100,000<br /> -
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Neonatal onset <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855106&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855106</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003623" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003623</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003623" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003623</a>]</span><br /> -
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Patients may be asymptomatic, but are at risk for metabolic decompensation<br />
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</span>
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<span class="h5 mim-font">
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<strong> MOLECULAR BASIS </strong>
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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 argininosuccinate synthetase gene (ASS, <a href="/entry/603470#0001">603470.0001</a>)<br />
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</span>
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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 id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
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<div class="small">
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<div class="row">
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<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
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<h5>
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Citrullinemia
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- <a href="/phenotypicSeries/PS215700">PS215700</a>
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- 3 Entries
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</h5>
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</div>
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</div>
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<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
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<table class="table table-bordered table-condensed table-hover mim-table-padding">
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<thead>
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<tr>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Location</strong>
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</th>
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<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
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<strong>Phenotype</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Inheritance</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Phenotype<br />mapping key</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Phenotype<br />MIM number</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Gene/Locus</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Gene/Locus<br />MIM number</strong>
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/7/434?start=-3&limit=10&highlight=434"> 7q21.3 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/603471"> Citrullinemia, adult-onset type II </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/603471"> 603471 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/603859"> SLC25A13 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/603859"> 603859 </a>
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/7/434?start=-3&limit=10&highlight=434"> 7q21.3 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/605814"> Citrullinemia, type II, neonatal-onset </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/605814"> 605814 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/603859"> SLC25A13 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/603859"> 603859 </a>
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/9/577?start=-3&limit=10&highlight=577"> 9q34.11 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/215700"> Citrullinemia </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/215700"> 215700 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/603470"> ASS1 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/603470"> 603470 </a>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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<div class="text-right small">
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<a href="#mimPhenotypicSeriesFold" 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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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that classic citrullinemia is caused by homozygous or compound heterozygous mutation in the ASS1 gene (<a href="/entry/603470">603470</a>), which encodes argininosuccinate synthetase, on chromosome 9q34.</p>
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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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</h4>
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<p>Severe vomiting spells beginning at the age of 9 months and mental retardation were features of the first reported case, offspring of first-cousin parents; <a href="#27" class="mim-tip-reference" title="McMurray, W. C., Mohyuddin, F., Rossiter, R. J., Rathbun, J. C., Valentine, G. H., Koegler, S. J., Zarfas, D. E. <strong>Citrullinuria: a new aminoaciduria associated with mental retardation.</strong> Lancet 279: 138 only, 1962. Note: Originally Volume I."None>McMurray et al. (1962)</a> found citrulline in very high concentration in serum, spinal fluid, and urine. (The amino acid citrulline gets its name from its high concentration in the watermelon Citrullus vulgaris.) <a href="#46" class="mim-tip-reference" title="Visakorpi, J. K. <strong>Citrullinuria. (Letter)</strong> Lancet 279: 1357-1358, 1962. Note: Originally Volume I."None>Visakorpi (1962)</a> also described a case of citrullinuria. Ammonia intoxication is another manifestation. The enzyme defect concerns argininosuccinic acid synthetase (<a href="https://enzyme.expasy.org/EC/6.3.4.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EC\', \'domain\': \'expasy.org\'})">EC 6.3.4.5</a>). <a href="#40" class="mim-tip-reference" title="Tedesco, T. A., Mellman, W. J. <strong>Argininosuccinate synthetase activity and citrulline metabolism in cells cultured from a citrullinemic subject.</strong> Proc. Nat. Acad. Sci. 57: 829-834, 1967.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16591537/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16591537</a>] [<a href="https://doi.org/10.1073/pnas.57.3.829" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16591537">Tedesco and Mellman (1967)</a> found that the enzyme has an altered Michaelis constant. Most cases of citrullinemia have pursued a severe course with symptoms from birth and death in the neonatal period in more than half of cases. Orotic aciduria is present as well as hyperammonemia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16591537" 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 Japan, a distinct, late-onset form of citrullinemia has been reported (reviewed by <a href="#47" class="mim-tip-reference" title="Walser, M. <strong>Urea cycle disorders and other hereditary hyperammonemic syndromes. In: Stanbury, J. B.; Wyngaarden, J. B.; Fredrickson, D. S.; Goldstein, J. L.; Brown, M. S. (eds.): The Metabolic Basis of Inherited Disease.</strong> New York: McGraw-Hill (pub.) 1983. Pp. 402-438."None>Walser, 1983</a>); see adult-onset citrullinemia (CTLN2; <a href="/entry/603471">603471</a>). Significant clinical abnormality had onset in childhood or not until adulthood--age 48 years in 1 case. Symptoms included enuresis, delayed menarche, insomnia, sleep reversal, nocturnal sweats and terrors, recurrent vomiting (especially at night), diarrhea, tremors, episodes of confusion after meals, lethargy, convulsions, delusions and hallucinations, and brief episodes of coma. Delayed mental and physical development was shown by some patients. Most had a peculiar fondness for beans, peas, and peanuts from early childhood and a dislike for rice, other vegetables, and sweets. Since the preferred foods are high in arginine, the dietary predilection of these patients may reflect an arginine deficiency. As the patients get older, episodic disturbances become more frequent and bizarre behavior, including manic episodes, echolalia, and frank psychosis, appears. Citrulline concentrations in the plasma are increased and ASS activity is deficient. The late-onset form is apparently autosomal recessive because sibs have been affected and some of the parents have been consanguineous. The mutation may be allelic to that responsible for the classic form of the disorder. Most of the reports of the late-onset form have appeared in Japanese journals (see <a href="#47" class="mim-tip-reference" title="Walser, M. <strong>Urea cycle disorders and other hereditary hyperammonemic syndromes. In: Stanbury, J. B.; Wyngaarden, J. B.; Fredrickson, D. S.; Goldstein, J. L.; Brown, M. S. (eds.): The Metabolic Basis of Inherited Disease.</strong> New York: McGraw-Hill (pub.) 1983. Pp. 402-438."None>Walser (1983)</a> for references). An exception is the report by <a href="#26" class="mim-tip-reference" title="Matsuda, I., Anakura, M., Arashima, S., Saito, Y., Oka, Y. <strong>Variant form of citrullinemia.</strong> J. Pediat. 88: 824-826, 1976.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1271146/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1271146</a>] [<a href="https://doi.org/10.1016/s0022-3476(76)81123-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1271146">Matsuda et al. (1976)</a>. Also see <a href="#37" class="mim-tip-reference" title="Scott-Emuakpor, A., Higgins, J. V., Kohrman, A. F. <strong>Citrullinemia: a new case, with implications concerning adaptation to defective urea synthesis.</strong> Pediat. Res. 6: 626-633, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5057291/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5057291</a>]" pmid="5057291">Scott-Emuakpor et al. (1972)</a> for a similar case reported from the United States. Most adult citrullinemic patients in Japan have a quantitative type of abnormality of ASS (type II). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5057291+1271146" 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="#14" class="mim-tip-reference" title="Issa, A. R. A., Yadav, G., Teebi, A. S. <strong>Intrafamilial phenotypic variability in citrullinaemia: report of a family.</strong> J. Inherit. Metab. Dis. 11: 306-307, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3148074/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3148074</a>] [<a href="https://doi.org/10.1007/BF01800377" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3148074">Issa et al. (1988)</a> described an instructive family with variable severity in the same sibship. A girl showed a severe clinical course attributable to hyperammonemia, whereas identical twin brothers with similar plasma citrulline concentrations were asymptomatic, perhaps due to development of alternative pathways of ammonia metabolism. The similarity in the twins may indicate that the alternative pathways determining interindividual variability are genetically determined. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3148074" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#10" class="mim-tip-reference" title="Gucer, S., Asan, E., Atilla, P., Tokatli, A., Caglar, M. <strong>Early cirrhosis in a patient with type I citrullinaemia (CTLN1).</strong> J. Inherit. Metab. Dis. 27: 541-542, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15334737/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15334737</a>] [<a href="https://doi.org/10.1023/b:boli.0000037401.63596.de" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15334737">Gucer et al. (2004)</a> reported a 17-month-old girl with type I citrullinemia who developed early cirrhosis of the liver. She was diagnosed in infancy during investigation of 2 sib deaths and was found to have a homozygous truncating mutation in the ASS gene (<a href="/entry/603470#0018">603470.0018</a>). From 5 months of age, she showed failure to thrive, several mental and motor retardation, and persistent hepatomegaly with fluctuating transaminase levels. She had 1 hyperammonemic episode precipitated by infection. At 17 months, she presented with lethargy, vomiting, spasticity, and coagulopathy. She died of hyperammonemia and hepatic encephalopathy. Postmortem liver examination showed early cirrhosis without steatosis. <a href="#10" class="mim-tip-reference" title="Gucer, S., Asan, E., Atilla, P., Tokatli, A., Caglar, M. <strong>Early cirrhosis in a patient with type I citrullinaemia (CTLN1).</strong> J. Inherit. Metab. Dis. 27: 541-542, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15334737/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15334737</a>] [<a href="https://doi.org/10.1023/b:boli.0000037401.63596.de" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15334737">Gucer et al. (2004)</a> noted that liver fibrosis and hepatomegaly can occur in late-onset ASS deficiency, but the early presentation in this child was unusual. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15334737" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a review of inherited metabolic disorders and stroke, <a href="#41" 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 (<a href="/entry/237300">237300</a>), OTC deficiency (<a href="/entry/311250">311250</a>), and citrullinemia 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><p><a href="#2" 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. The third most common disorder was argininosuccinate synthase deficiency, with 87 cases (14%). <a href="#2" 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 mortality rate to be 7% in ASS deficiency (neonatal plus late onset). <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>Type I citrullinemia shows kinetically abnormal ASS in the liver, kidney, and cultured fibroblasts. In type II, low ASS is found in the liver but not in kidney or cultured skin fibroblasts. Residual enzyme in the liver has normal kinetic properties (<a href="#35" class="mim-tip-reference" title="Saheki, T., Ueda, A., Hosoya, M., Kusumi, K., Takada, S., Tsuda, M., Katsunuma, T. <strong>Qualitative and quantitative abnormalities of argininosuccinate synthetase in citrullinemia.</strong> Clin. Chim. Acta 109: 325-335, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6784969/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6784969</a>] [<a href="https://doi.org/10.1016/0009-8981(81)90318-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6784969">Saheki et al., 1981</a>). In a study of mRNA coding for ASS, <a href="#22" class="mim-tip-reference" title="Kobayashi, K., Saheki, T., Imamura, Y., Noda, T., Inoue, I., Matuo, S., Hagihara, S., Nomiyama, H., Jinno, Y., Shimada, K. <strong>Messenger RNA coding for argininosuccinate synthetase in citrullinemia.</strong> Am. J. Hum. Genet. 38: 667-680, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3459354/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3459354</a>]" pmid="3459354">Kobayashi et al. (1986)</a> found that patients with the quantitative type of citrullinemia had, as demonstrated in previous studies, about 10% of the control value of the enzyme in the liver but a normal level of mRNA. They concluded that in type II citrullinemia, the decrease in the enzyme protein is due either to increased degradation of the enzyme or to decreased or inhibited translation in the liver. <a href="#22" class="mim-tip-reference" title="Kobayashi, K., Saheki, T., Imamura, Y., Noda, T., Inoue, I., Matuo, S., Hagihara, S., Nomiyama, H., Jinno, Y., Shimada, K. <strong>Messenger RNA coding for argininosuccinate synthetase in citrullinemia.</strong> Am. J. Hum. Genet. 38: 667-680, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3459354/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3459354</a>]" pmid="3459354">Kobayashi et al. (1986)</a> found another type of citrullinemia which they classified as type III. It is characterized by no detectable enzyme activity for ASS and no translation activity for ASS mRNA. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6784969+3459354" 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="#51" class="mim-tip-reference" title="Wilson, C. J., Lee, P. J., Leonard, J. V. <strong>Plasma glutamine and ammonia concentrations in ornithine carbamoyltransferase deficiency and citrullinaemia.</strong> J. Inherit. Metab. Dis. 24: 691-695, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11804205/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11804205</a>] [<a href="https://doi.org/10.1023/a:1012995701589" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11804205">Wilson et al. (2001)</a> reviewed the plasma ammonia and glutamine concentrations during long-term management of 7 patients with ornithine carbamoyltransferase (OTC) deficiency (<a href="/entry/311250">311250</a>) and 3 patients with citrullinemia. Patients with citrullinemia tend to have higher plasma ammonia concentrations for a given plasma glutamine concentration compared to those with OTC deficiency, and there was not a simple linear relationship between glutamine and ammonia in either condition. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11804205" 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="#38" class="mim-tip-reference" title="Siri, B., Olivieri, G., Angeloni, A., Cairoli, S., Carducci, C., Cotugno, G., Di Michele, S., Giovanniello, T., La Marca, G., Lepri, F. R., Novelli, A., Rossi, C., Semararo, M., Dionisi-Vici, C. <strong>The diagnostic challenge of mild citrulline elevation at newborn screening.</strong> Molec. Genet. Metab. 135: 327-332, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35279366/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35279366</a>] [<a href="https://doi.org/10.1016/j.ymgme.2022.02.008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="35279366">Siri et al. (2022)</a> reported molecular diagnoses and clinical features in 10 patients who had mild elevations of citrulline (levels less than 100 micromolar but above the upper limit of normal) detected on newborn screening. Seven of these patients were found to be heterozygous carriers for mutations in the ASS1 gene; 1 patient had biallelic mutations in the ASL (<a href="/entry/608310">608310</a>) gene and a clinically mild form of argininosuccinate aciduria (<a href="/entry/207900">207900</a>); 1 patient had a homozygous mutation in the SLC7A7 (<a href="/entry/603593">603593</a>) gene and clinical and biochemical features of lysinurinic protein intolerance (<a href="/entry/222700">222700</a>); and 1 patient had a homozygous mutation in the DLD (<a href="/entry/238331">238331</a>) gene and clinical and biochemical features of dihydrolipoamide deficiency (<a href="/entry/246900">246900</a>). Based on these cases, <a href="#38" class="mim-tip-reference" title="Siri, B., Olivieri, G., Angeloni, A., Cairoli, S., Carducci, C., Cotugno, G., Di Michele, S., Giovanniello, T., La Marca, G., Lepri, F. R., Novelli, A., Rossi, C., Semararo, M., Dionisi-Vici, C. <strong>The diagnostic challenge of mild citrulline elevation at newborn screening.</strong> Molec. Genet. Metab. 135: 327-332, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35279366/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35279366</a>] [<a href="https://doi.org/10.1016/j.ymgme.2022.02.008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="35279366">Siri et al. (2022)</a> proposed an algorithm for evaluation of an infant with mild elevation of citrulline on newborn screening. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=35279366" 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="#33" class="mim-tip-reference" title="Rubenstein, J. L. R., Johnston, K., Elliott, G. R., Brusilow, S. W. <strong>Haloperidol-induced hyperammonaemia in a child with citrullinaemia.</strong> J. Inherit. Metab. Dis. 13: 754-755, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2246861/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2246861</a>] [<a href="https://doi.org/10.1007/BF01799580" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2246861">Rubenstein et al. (1990)</a> suspected that haloperidol induced hyperammonemia in a child with citrullinemia. <a href="#1" class="mim-tip-reference" title="Batshaw, M. L., Brusilow, S. W. <strong>Valproate-induced hyperammonemia.</strong> Ann. Neurol. 11: 319-321, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6807193/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6807193</a>] [<a href="https://doi.org/10.1002/ana.410110315" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6807193">Batshaw and Brusilow (1982)</a> reported that valproate exacerbated hyperammonemia in a patient with carbamoyl phosphate synthetase deficiency (<a href="/entry/237300">237300</a>). <a href="#48" class="mim-tip-reference" title="Walter, J. H., Allen, J. T., Holton, J. B. <strong>Arginosuccinate (sic) synthetase deficiency: good outcome despite severe neonatal hyperammonaemia.</strong> J. Inherit. Metab. Dis. 15: 282-283, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1527997/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1527997</a>] [<a href="https://doi.org/10.1007/BF01799645" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1527997">Walter et al. (1992)</a> described an infant who had had severe hyperammonemia in the newborn period from ASS deficiency, but who, at the age of 18 months, was developmentally normal. The patient was so severely affected that the prognosis was considered very poor in the very early days of life, and ventilatory support was continued only at the request of the parents. With improvements in neonatal intensive care and the early use of sodium benzoate and phenol acetate to remove nitrogen by alternative pathways, the outcome for newborns with hyperammonemia may not always be as poor as previously thought. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1527997+2246861+6807193" 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="#32" class="mim-tip-reference" title="Potter, M. A., Zeesman, S., Brennan, B., Kobayashi, K., Gao, H.-Z., Tabata, A., Saheki, T., Whelan, D. T. <strong>Pregnancy in a healthy woman with untreated citrullinemia.</strong> Am. J. Med. Genet. 129A: 77-82, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15266621/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15266621</a>] [<a href="https://doi.org/10.1002/ajmg.a.20559" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15266621">Potter et al. (2004)</a> described the clinical and biochemical data in a 29-year-old woman with citrullinemia who went through 2 successful pregnancies. The woman had been identified through newborn screening (<a href="#49" class="mim-tip-reference" title="Whelan, D. T., Brusso, T., Spate, M. <strong>Citrullinemia: phenotypic variations.</strong> Pediatrics 57: 935-941, 1976.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/934749/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">934749</a>]" pmid="934749">Whelan et al., 1976</a>) and had remained asymptomatic throughout her life. Mutation analysis showed that she was a compound heterozygote for a known and a novel mutation: IVS15-1G-C (<a href="/entry/603470#0018">603470.0018</a>) and K310Q (<a href="/entry/603470#0019">603470.0019</a>). With the expansion of newborn screening programs to include citrullinemia, numerous asymptomatic infants and children had been identified. It is important to define prognostic indicators that will help with treatment decisions and genetic counseling. The patient reported by <a href="#32" class="mim-tip-reference" title="Potter, M. A., Zeesman, S., Brennan, B., Kobayashi, K., Gao, H.-Z., Tabata, A., Saheki, T., Whelan, D. T. <strong>Pregnancy in a healthy woman with untreated citrullinemia.</strong> Am. J. Med. Genet. 129A: 77-82, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15266621/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15266621</a>] [<a href="https://doi.org/10.1002/ajmg.a.20559" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15266621">Potter et al. (2004)</a> was the only citrullinemic adult who had been followed prospectively and contributed important information in this regard. Her children were unaffected by the high citrulline levels demonstrated in amniotic fluid and breast milk, suggesting that citrulline is not teratogenic. Pregnancy is an important risk factor for women with citrullinemia, but, as long as metabolic crisis is avoided, it appears that females with citrullinemia can have normal pregnancy outcomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=934749+15266621" 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>From study of human-hamster cell hybrids, <a href="#3" class="mim-tip-reference" title="Carritt, B., Goldfarb, P. S. G., Hooper, M. L., Slack, C. <strong>Chromosome assignment of a human gene for argininosuccinate synthetase expression in Chinese hamster-human somatic cell hybrids.</strong> Exp. Cell Res. 106: 71-78, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/852520/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">852520</a>] [<a href="https://doi.org/10.1016/0014-4827(77)90242-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="852520">Carritt et al. (1977)</a> concluded that a gene for argininosuccinate synthetase is carried by chromosome 9. In a study of 10 citrullinemic cell lines, <a href="#5" class="mim-tip-reference" title="Cathelineau, L., Pham Dinh, D., Briand, P., Kamoun, P. <strong>Studies on complementation in argininosuccinate synthetase and argininosuccinate lyase deficiencies in human fibroblasts.</strong> Hum. Genet. 57: 282-284, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7250970/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7250970</a>] [<a href="https://doi.org/10.1007/BF00278945" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7250970">Cathelineau et al. (1981)</a> observed no complementation. <a href="#31" class="mim-tip-reference" title="Northrup, H., Lathrop, M., Lu, S.-Y., Daiger, S. P., Beaudet, A. L., O'Brien, W. E. <strong>Multilocus linkage analysis with the human argininosuccinate synthetase gene.</strong> Genomics 5: 442-444, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2575581/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2575581</a>] [<a href="https://doi.org/10.1016/0888-7543(89)90007-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2575581">Northrup et al. (1989)</a> identified 3 RFLPs within the ASS gene. They found that the ASS gene is located about 0.04 cM from the ABO blood group locus (<a href="/entry/110300">110300</a>) and is probably centromeric to ABO, between ABO and ABL (<a href="/entry/189980">189980</a>). <a href="#15" class="mim-tip-reference" title="Jackson, M. J., Surh, L. C., O'Brien, W. E., Beaudet, A. L. <strong>Assignment of the structural gene for argininosuccinate synthetase to proximal mouse chromosome 2.</strong> Genomics 6: 545-547, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1970331/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1970331</a>] [<a href="https://doi.org/10.1016/0888-7543(90)90484-c" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1970331">Jackson et al. (1990)</a> assigned the murine equivalent to the proximal portion of mouse chromosome 2 by study of recombinant inbred strains. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1970331+2575581+852520+7250970" 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="#18" class="mim-tip-reference" title="Kobayashi, K., Jackson, M. J., Tick, D. B., O'Brien, W. E., Beaudet, A. L. <strong>Characterization of nine mutant alleles causing citrullinemia. (Abstract)</strong> Am. J. Hum. Genet. 45 (suppl.): A201 only, 1989."None>Kobayashi et al. (1989)</a> found that since most patients with citrullinemia express stable mRNA in fibroblasts, the disorder is ideally suited for gene amplification with PCR and sequence analysis of mutant cDNA. They sequenced cDNA from 11 independent chromosomes and identified 9 different mutations: 3 showed absence of exon 5, 6 or 7, and 6 showed point mutations. Five of the 6 involved C:G-to-T:A transitions in CpG dinucleotides, and 3 of these resulted in loss of MspI sites. <a href="#19" class="mim-tip-reference" title="Kobayashi, K., Jackson, M. J., Tick, D. B., O'Brien, W. E., Beaudet, A. L. <strong>Heterogeneity of mutations in argininosuccinate synthetase causing human citrullinemia.</strong> J. Biol. Chem. 265: 11361-11367, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2358466/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2358466</a>]" pmid="2358466">Kobayashi et al. (1990)</a> further demonstrated the marked heterogeneity of mutations causing citrullinemia: among 13 unrelated patients with the neonatal form of the disease, they found 10 different mutations. Seven were single missense mutations. Two had deletions of single exons (no. 7 and no. 13) and one had a G-to-C substitution in the last position of intron 15 resulting in splicing to a cryptic splice site within exon 16. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2358466" 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 the course of studying the molecular nature of mutations in Japanese patients with classic citrullinemia, <a href="#23" class="mim-tip-reference" title="Kobayashi, K., Shaheen, N., Terazono, H., Saheki, T. <strong>Mutations in argininosuccinate synthetase mRNA of Japanese patients, causing classical citrullinemia.</strong> Am. J. Hum. Genet. 55: 1103-1112, 1994. Note: Erratum: Am. J. Hum. Genet. 56: 356 only, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7977368/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7977368</a>]" pmid="7977368">Kobayashi et al. (1994)</a> found that 10 of 23 affected alleles had the same mutation, deletion of exon 7 (IVS6-2A-G; <a href="/entry/603470#0003">603470.0003</a>). This differed from the situation in the United States, where far greater heterogeneity of mutations had been found. <a href="#20" class="mim-tip-reference" title="Kobayashi, K., Kakinoki, H., Fukushige, T., Shaheen, N., Terazono, H., Saheki, T. <strong>Nature and frequency of mutations in the argininosuccinate synthetase gene that cause classical citrullinemia.</strong> Hum. Genet. 96: 454-463, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7557970/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7557970</a>] [<a href="https://doi.org/10.1007/BF00191806" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7557970">Kobayashi et al. (1995)</a> reported that 20 mutations had been identified in ASS mRNA in classic citrullinemia, including 14 single base changes causing missense mutations, 4 mutations associated with an absence of exons 5, 6, 7, or 13 in mRNA, 1 mutation with a deletion of the first 7 bases in exon 16 (caused by abnormal splicing), and 1 mutation with an insertion of 37 bases between the exon 15 and 16 regions of mRNA. In an extension of their previous studies, <a href="#20" class="mim-tip-reference" title="Kobayashi, K., Kakinoki, H., Fukushige, T., Shaheen, N., Terazono, H., Saheki, T. <strong>Nature and frequency of mutations in the argininosuccinate synthetase gene that cause classical citrullinemia.</strong> Hum. Genet. 96: 454-463, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7557970/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7557970</a>] [<a href="https://doi.org/10.1007/BF00191806" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7557970">Kobayashi et al. (1995)</a> reported that 19 of 33 Japanese ASS alleles had the IVS6AS-2 mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7557970+7977368" 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 the so-called RNA-negative phenotype of citrullinemia, in which no stable mRNA can be detected, <a href="#25" class="mim-tip-reference" title="Li, C.-M., Chao, H.-K., Liu, Y.-F., Su, T.-S. <strong>A nonsense mutation is responsible for the RNA-negative phenotype in human citrullinaemia.</strong> Europ. J. Hum. Genet. 9: 685-689, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11571557/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11571557</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200695" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11571557">Li et al. (2001)</a> determined the molecular basis to be a nonsense mutation (<a href="/entry/603470#0013">603470.0013</a>) in exon 12 of the ASS gene. The most likely event responsible for the mRNA reduction appeared to be nonsense-mediated nucleus-associated mRNA decay. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11571557" 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>Most reported patients with citrullinemia have presented with the classic form of the disease. There are also patients with a mild form of citrullinemia in whom the exact molecular basis and clinical relevance are uncertain. Mutations in the ASS gene had not been described in mildly affected or asymptomatic patients with citrullinemia until the work of <a href="#11" class="mim-tip-reference" title="Haberle, J., Pauli, S., Linnebank, M., Kleijer, W. J., Bakker, H. D., Wanders, R. J. A., Harms, E., Koch, H. G. <strong>Structure of the human argininosuccinate synthetase gene and an improved system for molecular diagnostics in patients with classical and mild citrullinemia.</strong> Hum. Genet. 110: 327-333, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11941481/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11941481</a>] [<a href="https://doi.org/10.1007/s00439-002-0686-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11941481">Haberle et al. (2002)</a>, who described mutations in the ASS gene of patients with both the classic and the mild form of the disease. The mutations gly390 to arg (G390R; <a href="/entry/603470#0009">603470.0009</a>), IVS13+5G-A (<a href="/entry/603470#0017">603470.0017</a>), and arg108 to leu (R108L; <a href="/entry/603470#0014">603470.0014</a>) were associated with classic citrullinemia, whereas the mutations trp179 to arg (W179R; <a href="/entry/603470#0015">603470.0015</a>) and gly362 to val (G362V; <a href="/entry/603470#0016">603470.0016</a>) were detected on alleles of mildly affected patients. These were cases of asymptomatic children with biochemical abnormalities. The authors concluded that the elucidation of the structure of the human ASS gene made it possible to use intronic primers for molecular analysis of patients with mild disease and the classic form, and provided another option for prenatal diagnostics in affected families with the severe type. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11941481" 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="#9" class="mim-tip-reference" title="Engel, K., Hohne, W., Haberle, J. <strong>Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene.</strong> Hum. Mutat. 30: 300-307, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19006241/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19006241</a>] [<a href="https://doi.org/10.1002/humu.20847" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19006241">Engel et al. (2009)</a> provided a review of mutations in the ASS1 gene. They listed 87 mutations, including 27 novel mutations, in patients with citrullinemia. Mutations are distributed throughout the gene, and it is usually difficult to predict the phenotype based on genotype. However, the G390R mutation (<a href="/entry/603470#0009">603470.0009</a>) in exon 15 was found to be the single most common mutation in patients with the classic phenotype. <a href="#9" class="mim-tip-reference" title="Engel, K., Hohne, W., Haberle, J. <strong>Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene.</strong> Hum. Mutat. 30: 300-307, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19006241/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19006241</a>] [<a href="https://doi.org/10.1002/humu.20847" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19006241">Engel et al. (2009)</a> also provided a map of the geographic distribution of ASS1 mutations worldwide. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19006241" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The prevalence of citrullinemia is estimated to be 1 in 100,000 (<a href="#41" 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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<p>In Friesian cattle in Australia, Harper et al. (<a href="#12" class="mim-tip-reference" title="Harper, P. A., Healy, P. J., Dennis, J. A., O'Brien, J. J., Rayward, D. H. <strong>Citrullinaemia as a cause of neurological disease in neonatal Friesian calves.</strong> Aust. Vet. J. 63: 378-379, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3827779/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3827779</a>] [<a href="https://doi.org/10.1111/j.1751-0813.1986.tb02907.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3827779">1986</a>, <a href="#13" class="mim-tip-reference" title="Harper, P. A. W., Healy, P. J., Dennis, J. A. <strong>Animal model of human disease: citrullinemia (argininosuccinate synthetase deficiency).</strong> Am. J. Path. 135: 1213-1215, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2596577/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2596577</a>]" pmid="2596577">1989</a>) reported that citrullinemia-affected calves had a clinical disease similar to the acute neonatal form of citrullinemia in humans. <a href="#8" class="mim-tip-reference" title="Dennis, J. A., Healy, P. J., Beaudet, A. L., O'Brien, W. E. <strong>Molecular definition of bovine argininosuccinate synthetase deficiency.</strong> Proc. Nat. Acad. Sci. 86: 7947-7951, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2813370/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2813370</a>] [<a href="https://doi.org/10.1073/pnas.86.20.7947" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2813370">Dennis et al. (1989)</a> cloned and sequenced bovine cDNA for argininosuccinate synthetase and found 96% identity with the deduced human sequence at the amino acid level. <a href="#8" class="mim-tip-reference" title="Dennis, J. A., Healy, P. J., Beaudet, A. L., O'Brien, W. E. <strong>Molecular definition of bovine argininosuccinate synthetase deficiency.</strong> Proc. Nat. Acad. Sci. 86: 7947-7951, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2813370/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2813370</a>] [<a href="https://doi.org/10.1073/pnas.86.20.7947" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2813370">Dennis et al. (1989)</a> found, furthermore, a C-to-T transition converting arginine-86 (CGA) to a nonsense codon (TGA). The loss of an AvaII site could be used for rapid, economical, nonradioactive detection of heterozygotes for bovine citrullinemia. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2813370+2596577+3827779" 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="#Carritt1977" class="mim-tip-reference" title="Carritt, B. <strong>Somatic cell genetic evidence for the presence of a gene for citrullinemia on human chromosome 9.</strong> Cytogenet. Cell Genet. 19: 44-48, 1977.">Carritt (1977)</a>; <a href="#Daiger1984" class="mim-tip-reference" title="Daiger, S. P., Hoffman, N. S., Wildin, R. S., Su, T.-S. <strong>Multiple, independent restriction site polymorphisms in human DNA detected with a cDNA probe to argininosuccinate synthetase (AS).</strong> Am. J. Hum. Genet. 36: 736-749, 1984.">Daiger et al. (1984)</a>; <a href="#Daiger1981" class="mim-tip-reference" title="Daiger, S. P., Wildin, R. S., Su, T.-S. <strong>Polymorphic variants of restriction fragments of human DNA detected with a probe to argininosuccinate synthetase. (Abstract)</strong> Am. J. Hum. Genet. 33: 136A only, 1981.">Daiger et al. (1981)</a>; <a href="#Kennaway1975" class="mim-tip-reference" title="Kennaway, N. G., Harwood, P. J., Ramberg, D. A., Koler, R. D., Buist, N. R. M. <strong>Citrullinemia: enzymatic evidence for genetic heterogeneity.</strong> Pediat. Res. 9: 554-558, 1975.">Kennaway
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et al. (1975)</a>; <a href="#Kobayashi1987" class="mim-tip-reference" title="Kobayashi, K., Ichiki, H., Saheki, T., Tatsuno, M., Uchiyama, C., Nukada, O., Yoda, T. <strong>Structure of an abnormal messenger RNA for argininosuccinate synthetase in citrullinemia.</strong> Hum. Genet. 76: 27-32, 1987.">Kobayashi et al. (1987)</a>; <a href="#Kobayashi1991" class="mim-tip-reference" title="Kobayashi, K., Rosenbloom, C., Beaudet, A. L., O'Brien, W. E. <strong>Additional mutations in argininosuccinate synthetase causing citrullinemia.</strong> Molec. Biol. Med. 8: 95-100, 1991.">Kobayashi et al. (1991)</a>; <a href="#Kuhara1985" class="mim-tip-reference" title="Kuhara, H., Wakabayashi, T., Kishimoto, H., Hayashi, K., Katoh, T., Itoh, J., Wada, Y. <strong>Neonatal type of argininosuccinate synthetase deficiency: report of two cases with autopsy findings.</strong> Acta Path. Jpn. 35: 995-1006, 1985.">Kuhara et al. (1985)</a>; <a href="#McMurray1963" class="mim-tip-reference" title="McMurray, W. C., Rathbun, J. C., Mohyuddin, F., Koegler, S. J. <strong>Citrullinuria.</strong> Pediatrics 32: 347-357, 1963.">McMurray et al. (1963)</a>; <a href="#Mohyuddin1967" class="mim-tip-reference" title="Mohyuddin, F., Rathbun, J. C., McMurray, W. C. <strong>Studies on amino acid metabolism in citrullinuria.</strong> Am. J. Dis. Child. 113: 152-156, 1967.">Mohyuddin et al.
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(1967)</a>; <a href="#Morrow1967" class="mim-tip-reference" title="Morrow, G., III, Barness, L. A., Efron, M. L. <strong>Citrullinemia with defective urea production.</strong> Pediatrics 40: 565-574, 1967.">Morrow et al. (1967)</a>; <a href="#Saheki1985" class="mim-tip-reference" title="Saheki, T., Nakano, K., Kobayashi, K., Imamura, Y., Itakura, Y., Sase, M., Hagihara, S., Matuo, S. <strong>Analysis of the enzyme abnormality in eight cases of neonatal and infantile citrullinaemia in Japan.</strong> J. Inherit. Metab. Dis. 8: 155-156, 1985.">Saheki et al. (1985)</a>; <a href="#Sase1985" class="mim-tip-reference" title="Sase, M., Kobayashi, K., Imamura, Y., Saheki, T., Nakano, K., Miura, S., Mori, M. <strong>Level of translatable messenger RNA coding for argininosuccinate synthetase in the liver of the patients with quantitative-type citrullinemia.</strong> Hum. Genet. 69: 130-134, 1985.">Sase et al.
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(1985)</a>; <a href="#Su1982" class="mim-tip-reference" title="Su, T.-S., Bock, H.-G. O., Beaudet, A. L., O'Brien, W. E. <strong>Molecular analysis of argininosuccinate synthetase deficiency in human fibroblasts.</strong> J. Clin. Invest. 70: 1334-1339, 1982.">Su et al. (1982)</a>; <a href="#Thoene1977" class="mim-tip-reference" title="Thoene, J., Batshaw, M., Spector, E., Kulovich, S., Brusilow, S., Walser, M., Nyhan, W. L. <strong>Neonatal citrullinemia--treatment with ketoanalogues of essential amino acids.</strong> J. Pediat. 90: 218-224, 1977.">Thoene et al. (1977)</a>; <a href="#Todd1992" class="mim-tip-reference" title="Todd, S., Naylor, S. L. <strong>New chromosomal mapping assignments for argininosuccinate synthetase pseudogene 1, interferon-beta-3 gene, and the diazepam binding inhibitor gene.</strong> Somat. Cell Molec. Genet. 18: 381-385, 1992.">Todd and Naylor
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(1992)</a>; <a href="#Van1971" class="mim-tip-reference" title="Van der Zee, S. P. M., Trijbels, J. M. F., Monnens, L. A. H., Hommes, F. A., Schretlen, E. D. A. M. <strong>Citrullinaemia with rapidly fatal neonatal course.</strong> Arch. Dis. Child. 46: 847-851, 1971.">Van der Zee et al. (1971)</a>; <a href="#Vidailhet1971" class="mim-tip-reference" title="Vidailhet, M., Levin, B., Dautrevaux, M., Paysant, P., Gelot, S., Badonnel, Y., Pierson, M., Niemann, N. <strong>Citrullinemia.</strong> Arch. Franc. Pediat. 28: 521-532, 1971.">Vidailhet et al. (1971)</a>; <a href="#Wick1973" class="mim-tip-reference" title="Wick, H., Bachmann, C., Baumgartner, R., Brechbuhler, T., Colombo, J. P., Wiesmann, U., Mihatsch, M. J., Ohnacker, H. <strong>Variants of citrullinaemia.</strong> Arch. Dis. Child. 48: 636-641, 1973.">Wick et
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al. (1973)</a>
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[<a href="https://doi.org/10.1016/j.ymgme.2014.08.001" target="_blank">Full Text</a>]
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Carritt, B., Goldfarb, P. S. G., Hooper, M. L., Slack, C.
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<strong>Chromosome assignment of a human gene for argininosuccinate synthetase expression in Chinese hamster-human somatic cell hybrids.</strong>
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Exp. Cell Res. 106: 71-78, 1977.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/852520/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">852520</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=852520" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0014-4827(77)90242-7" target="_blank">Full Text</a>]
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Carritt, B.
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<strong>Somatic cell genetic evidence for the presence of a gene for citrullinemia on human chromosome 9.</strong>
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Cytogenet. Cell Genet. 19: 44-48, 1977.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/891260/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">891260</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=891260" 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/10.1159/000130793" target="_blank">Full Text</a>]
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Cathelineau, L., Pham Dinh, D., Briand, P., Kamoun, P.
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<strong>Studies on complementation in argininosuccinate synthetase and argininosuccinate lyase deficiencies in human fibroblasts.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7250970/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7250970</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7250970" 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/10.1007/BF00278945" target="_blank">Full Text</a>]
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Daiger, S. P., Hoffman, N. S., Wildin, R. S., Su, T.-S.
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<strong>Multiple, independent restriction site polymorphisms in human DNA detected with a cDNA probe to argininosuccinate synthetase (AS).</strong>
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Am. J. Hum. Genet. 36: 736-749, 1984.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6089548/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6089548</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6089548" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Daiger, S. P., Wildin, R. S., Su, T.-S.
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<strong>Polymorphic variants of restriction fragments of human DNA detected with a probe to argininosuccinate synthetase. (Abstract)</strong>
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Am. J. Hum. Genet. 33: 136A only, 1981.
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Dennis, J. A., Healy, P. J., Beaudet, A. L., O'Brien, W. E.
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<strong>Molecular definition of bovine argininosuccinate synthetase deficiency.</strong>
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Proc. Nat. Acad. Sci. 86: 7947-7951, 1989.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2813370/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2813370</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2813370" 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/10.1073/pnas.86.20.7947" target="_blank">Full Text</a>]
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Engel, K., Hohne, W., Haberle, J.
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<strong>Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene.</strong>
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Hum. Mutat. 30: 300-307, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19006241/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19006241</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19006241" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/humu.20847" target="_blank">Full Text</a>]
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Gucer, S., Asan, E., Atilla, P., Tokatli, A., Caglar, M.
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<strong>Early cirrhosis in a patient with type I citrullinaemia (CTLN1).</strong>
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J. Inherit. Metab. Dis. 27: 541-542, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15334737/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15334737</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15334737" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1023/b:boli.0000037401.63596.de" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/s00439-002-0686-6" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1751-0813.1986.tb02907.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF01800377" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0888-7543(90)90484-c" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1203/00006450-197506000-00008" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00283045" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00191806" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/sj.ejhg.5200695" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0022-3476(76)81123-7" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1001/archpedi.1967.02090160202033" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.20559" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF01819306" target="_blank">Full Text</a>]
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Whelan, D. T., Brusso, T., Spate, M.
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<strong>Citrullinemia: phenotypic variations.</strong>
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Pediatrics 57: 935-941, 1976.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/934749/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">934749</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=934749" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Wick, H., Bachmann, C., Baumgartner, R., Brechbuhler, T., Colombo, J. P., Wiesmann, U., Mihatsch, M. J., Ohnacker, H.
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<strong>Variants of citrullinaemia.</strong>
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Arch. Dis. Child. 48: 636-641, 1973.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4783005/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4783005</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4783005" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/adc.48.8.636" target="_blank">Full Text</a>]
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Wilson, C. J., Lee, P. J., Leonard, J. V.
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<strong>Plasma glutamine and ammonia concentrations in ornithine carbamoyltransferase deficiency and citrullinaemia.</strong>
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J. Inherit. Metab. Dis. 24: 691-695, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11804205/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11804205</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11804205" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1023/a:1012995701589" target="_blank">Full Text</a>]
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Hilary J. Vernon - updated : 04/21/2022
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Ada Hamosh - updated : 1/8/2015<br>Cassandra L. Kniffin - updated : 10/11/2010<br>Cassandra L. Kniffin - updated : 10/20/2009<br>Cassandra L. Kniffin - updated : 5/7/2009<br>Victor A. McKusick - updated : 1/11/2005<br>Victor A. McKusick - updated : 6/5/2002<br>Michael B. Petersen - updated : 2/28/2002<br>Ada Hamosh - updated : 1/30/2002<br>Victor A. McKusick - updated : 5/26/1999
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Creation Date:
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Victor A. McKusick : 6/3/1986
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joanna : 04/22/2022
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carol : 04/21/2022<br>carol : 07/07/2016<br>alopez : 1/8/2015<br>carol : 4/4/2013<br>wwang : 10/29/2010<br>ckniffin : 10/11/2010<br>alopez : 12/21/2009<br>wwang : 10/29/2009<br>ckniffin : 10/20/2009<br>ckniffin : 10/20/2009<br>wwang : 5/19/2009<br>ckniffin : 5/7/2009<br>terry : 2/24/2009<br>terry : 2/24/2009<br>terry : 4/18/2005<br>wwang : 1/14/2005<br>wwang : 1/12/2005<br>terry : 1/11/2005<br>carol : 12/4/2003<br>mgross : 6/5/2002<br>cwells : 3/6/2002<br>cwells : 3/6/2002<br>cwells : 2/28/2002<br>carol : 2/28/2002<br>alopez : 2/4/2002<br>terry : 1/30/2002<br>carol : 5/26/1999<br>alopez : 9/10/1998<br>terry : 7/31/1998<br>alopez : 6/10/1997<br>mark : 1/18/1997<br>mark : 1/18/1997<br>mark : 1/18/1997<br>mark : 10/6/1995<br>carol : 1/4/1995<br>davew : 7/26/1994<br>terry : 7/15/1994<br>mimadm : 2/19/1994<br>carol : 11/8/1993
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<strong>#</strong> 215700
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<h3>
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CITRULLINEMIA, CLASSIC
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<em>Alternative titles; symbols</em>
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CITRULLINEMIA, TYPE I; CTLN1<br />
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CITRULLINURIA<br />
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ARGININOSUCCINATE SYNTHETASE DEFICIENCY<br />
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ASS DEFICIENCY
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<strong>SNOMEDCT:</strong> 1149103000, 124711003, 398680004;
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<strong>ICD10CM:</strong> E72.23;
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<strong>ORPHA:</strong> 247525, 247546, 247573;
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<strong>DO:</strong> 0070340;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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<span class="mim-font">
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9q34.11
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Citrullinemia
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215700
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Autosomal recessive
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3
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ASS1
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603470
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that classic citrullinemia is caused by homozygous or compound heterozygous mutation in the ASS1 gene (603470), which encodes argininosuccinate synthetase, on chromosome 9q34.</p>
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<strong>Clinical Features</strong>
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<p>Severe vomiting spells beginning at the age of 9 months and mental retardation were features of the first reported case, offspring of first-cousin parents; McMurray et al. (1962) found citrulline in very high concentration in serum, spinal fluid, and urine. (The amino acid citrulline gets its name from its high concentration in the watermelon Citrullus vulgaris.) Visakorpi (1962) also described a case of citrullinuria. Ammonia intoxication is another manifestation. The enzyme defect concerns argininosuccinic acid synthetase (EC 6.3.4.5). Tedesco and Mellman (1967) found that the enzyme has an altered Michaelis constant. Most cases of citrullinemia have pursued a severe course with symptoms from birth and death in the neonatal period in more than half of cases. Orotic aciduria is present as well as hyperammonemia. </p><p>In Japan, a distinct, late-onset form of citrullinemia has been reported (reviewed by Walser, 1983); see adult-onset citrullinemia (CTLN2; 603471). Significant clinical abnormality had onset in childhood or not until adulthood--age 48 years in 1 case. Symptoms included enuresis, delayed menarche, insomnia, sleep reversal, nocturnal sweats and terrors, recurrent vomiting (especially at night), diarrhea, tremors, episodes of confusion after meals, lethargy, convulsions, delusions and hallucinations, and brief episodes of coma. Delayed mental and physical development was shown by some patients. Most had a peculiar fondness for beans, peas, and peanuts from early childhood and a dislike for rice, other vegetables, and sweets. Since the preferred foods are high in arginine, the dietary predilection of these patients may reflect an arginine deficiency. As the patients get older, episodic disturbances become more frequent and bizarre behavior, including manic episodes, echolalia, and frank psychosis, appears. Citrulline concentrations in the plasma are increased and ASS activity is deficient. The late-onset form is apparently autosomal recessive because sibs have been affected and some of the parents have been consanguineous. The mutation may be allelic to that responsible for the classic form of the disorder. Most of the reports of the late-onset form have appeared in Japanese journals (see Walser (1983) for references). An exception is the report by Matsuda et al. (1976). Also see Scott-Emuakpor et al. (1972) for a similar case reported from the United States. Most adult citrullinemic patients in Japan have a quantitative type of abnormality of ASS (type II). </p><p>Issa et al. (1988) described an instructive family with variable severity in the same sibship. A girl showed a severe clinical course attributable to hyperammonemia, whereas identical twin brothers with similar plasma citrulline concentrations were asymptomatic, perhaps due to development of alternative pathways of ammonia metabolism. The similarity in the twins may indicate that the alternative pathways determining interindividual variability are genetically determined. </p><p>Gucer et al. (2004) reported a 17-month-old girl with type I citrullinemia who developed early cirrhosis of the liver. She was diagnosed in infancy during investigation of 2 sib deaths and was found to have a homozygous truncating mutation in the ASS gene (603470.0018). From 5 months of age, she showed failure to thrive, several mental and motor retardation, and persistent hepatomegaly with fluctuating transaminase levels. She had 1 hyperammonemic episode precipitated by infection. At 17 months, she presented with lethargy, vomiting, spasticity, and coagulopathy. She died of hyperammonemia and hepatic encephalopathy. Postmortem liver examination showed early cirrhosis without steatosis. Gucer et al. (2004) noted that liver fibrosis and hepatomegaly can occur in late-onset ASS deficiency, but the early presentation in this child was unusual. </p><p>In a review of inherited metabolic disorders and stroke, Testai and Gorelick (2010) noted that patients with urea cycle defects, including CPS1 deficiency (237300), OTC deficiency (311250), and citrullinemia can rarely have strokes. </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. The third most common disorder was argininosuccinate synthase deficiency, with 87 cases (14%). Batshaw et al. (2014) found the mortality rate to be 7% in ASS deficiency (neonatal plus late onset). </p>
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<strong>Biochemical Features</strong>
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<p>Type I citrullinemia shows kinetically abnormal ASS in the liver, kidney, and cultured fibroblasts. In type II, low ASS is found in the liver but not in kidney or cultured skin fibroblasts. Residual enzyme in the liver has normal kinetic properties (Saheki et al., 1981). In a study of mRNA coding for ASS, Kobayashi et al. (1986) found that patients with the quantitative type of citrullinemia had, as demonstrated in previous studies, about 10% of the control value of the enzyme in the liver but a normal level of mRNA. They concluded that in type II citrullinemia, the decrease in the enzyme protein is due either to increased degradation of the enzyme or to decreased or inhibited translation in the liver. Kobayashi et al. (1986) found another type of citrullinemia which they classified as type III. It is characterized by no detectable enzyme activity for ASS and no translation activity for ASS mRNA. </p><p>Wilson et al. (2001) reviewed the plasma ammonia and glutamine concentrations during long-term management of 7 patients with ornithine carbamoyltransferase (OTC) deficiency (311250) and 3 patients with citrullinemia. Patients with citrullinemia tend to have higher plasma ammonia concentrations for a given plasma glutamine concentration compared to those with OTC deficiency, and there was not a simple linear relationship between glutamine and ammonia in either condition. </p>
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<strong>Diagnosis</strong>
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<p>Siri et al. (2022) reported molecular diagnoses and clinical features in 10 patients who had mild elevations of citrulline (levels less than 100 micromolar but above the upper limit of normal) detected on newborn screening. Seven of these patients were found to be heterozygous carriers for mutations in the ASS1 gene; 1 patient had biallelic mutations in the ASL (608310) gene and a clinically mild form of argininosuccinate aciduria (207900); 1 patient had a homozygous mutation in the SLC7A7 (603593) gene and clinical and biochemical features of lysinurinic protein intolerance (222700); and 1 patient had a homozygous mutation in the DLD (238331) gene and clinical and biochemical features of dihydrolipoamide deficiency (246900). Based on these cases, Siri et al. (2022) proposed an algorithm for evaluation of an infant with mild elevation of citrulline on newborn screening. </p>
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<strong>Clinical Management</strong>
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<p>Rubenstein et al. (1990) suspected that haloperidol induced hyperammonemia in a child with citrullinemia. Batshaw and Brusilow (1982) reported that valproate exacerbated hyperammonemia in a patient with carbamoyl phosphate synthetase deficiency (237300). Walter et al. (1992) described an infant who had had severe hyperammonemia in the newborn period from ASS deficiency, but who, at the age of 18 months, was developmentally normal. The patient was so severely affected that the prognosis was considered very poor in the very early days of life, and ventilatory support was continued only at the request of the parents. With improvements in neonatal intensive care and the early use of sodium benzoate and phenol acetate to remove nitrogen by alternative pathways, the outcome for newborns with hyperammonemia may not always be as poor as previously thought. </p><p>Potter et al. (2004) described the clinical and biochemical data in a 29-year-old woman with citrullinemia who went through 2 successful pregnancies. The woman had been identified through newborn screening (Whelan et al., 1976) and had remained asymptomatic throughout her life. Mutation analysis showed that she was a compound heterozygote for a known and a novel mutation: IVS15-1G-C (603470.0018) and K310Q (603470.0019). With the expansion of newborn screening programs to include citrullinemia, numerous asymptomatic infants and children had been identified. It is important to define prognostic indicators that will help with treatment decisions and genetic counseling. The patient reported by Potter et al. (2004) was the only citrullinemic adult who had been followed prospectively and contributed important information in this regard. Her children were unaffected by the high citrulline levels demonstrated in amniotic fluid and breast milk, suggesting that citrulline is not teratogenic. Pregnancy is an important risk factor for women with citrullinemia, but, as long as metabolic crisis is avoided, it appears that females with citrullinemia can have normal pregnancy outcomes. </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>Mapping</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>From study of human-hamster cell hybrids, Carritt et al. (1977) concluded that a gene for argininosuccinate synthetase is carried by chromosome 9. In a study of 10 citrullinemic cell lines, Cathelineau et al. (1981) observed no complementation. Northrup et al. (1989) identified 3 RFLPs within the ASS gene. They found that the ASS gene is located about 0.04 cM from the ABO blood group locus (110300) and is probably centromeric to ABO, between ABO and ABL (189980). Jackson et al. (1990) assigned the murine equivalent to the proximal portion of mouse chromosome 2 by study of recombinant inbred strains. </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>Molecular 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>Kobayashi et al. (1989) found that since most patients with citrullinemia express stable mRNA in fibroblasts, the disorder is ideally suited for gene amplification with PCR and sequence analysis of mutant cDNA. They sequenced cDNA from 11 independent chromosomes and identified 9 different mutations: 3 showed absence of exon 5, 6 or 7, and 6 showed point mutations. Five of the 6 involved C:G-to-T:A transitions in CpG dinucleotides, and 3 of these resulted in loss of MspI sites. Kobayashi et al. (1990) further demonstrated the marked heterogeneity of mutations causing citrullinemia: among 13 unrelated patients with the neonatal form of the disease, they found 10 different mutations. Seven were single missense mutations. Two had deletions of single exons (no. 7 and no. 13) and one had a G-to-C substitution in the last position of intron 15 resulting in splicing to a cryptic splice site within exon 16. </p><p>In the course of studying the molecular nature of mutations in Japanese patients with classic citrullinemia, Kobayashi et al. (1994) found that 10 of 23 affected alleles had the same mutation, deletion of exon 7 (IVS6-2A-G; 603470.0003). This differed from the situation in the United States, where far greater heterogeneity of mutations had been found. Kobayashi et al. (1995) reported that 20 mutations had been identified in ASS mRNA in classic citrullinemia, including 14 single base changes causing missense mutations, 4 mutations associated with an absence of exons 5, 6, 7, or 13 in mRNA, 1 mutation with a deletion of the first 7 bases in exon 16 (caused by abnormal splicing), and 1 mutation with an insertion of 37 bases between the exon 15 and 16 regions of mRNA. In an extension of their previous studies, Kobayashi et al. (1995) reported that 19 of 33 Japanese ASS alleles had the IVS6AS-2 mutation. </p><p>In the so-called RNA-negative phenotype of citrullinemia, in which no stable mRNA can be detected, Li et al. (2001) determined the molecular basis to be a nonsense mutation (603470.0013) in exon 12 of the ASS gene. The most likely event responsible for the mRNA reduction appeared to be nonsense-mediated nucleus-associated mRNA decay. </p><p>Most reported patients with citrullinemia have presented with the classic form of the disease. There are also patients with a mild form of citrullinemia in whom the exact molecular basis and clinical relevance are uncertain. Mutations in the ASS gene had not been described in mildly affected or asymptomatic patients with citrullinemia until the work of Haberle et al. (2002), who described mutations in the ASS gene of patients with both the classic and the mild form of the disease. The mutations gly390 to arg (G390R; 603470.0009), IVS13+5G-A (603470.0017), and arg108 to leu (R108L; 603470.0014) were associated with classic citrullinemia, whereas the mutations trp179 to arg (W179R; 603470.0015) and gly362 to val (G362V; 603470.0016) were detected on alleles of mildly affected patients. These were cases of asymptomatic children with biochemical abnormalities. The authors concluded that the elucidation of the structure of the human ASS gene made it possible to use intronic primers for molecular analysis of patients with mild disease and the classic form, and provided another option for prenatal diagnostics in affected families with the severe type. </p><p>Engel et al. (2009) provided a review of mutations in the ASS1 gene. They listed 87 mutations, including 27 novel mutations, in patients with citrullinemia. Mutations are distributed throughout the gene, and it is usually difficult to predict the phenotype based on genotype. However, the G390R mutation (603470.0009) in exon 15 was found to be the single most common mutation in patients with the classic phenotype. Engel et al. (2009) also provided a map of the geographic distribution of ASS1 mutations worldwide. </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>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>The prevalence of citrullinemia is estimated to be 1 in 100,000 (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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<h4>
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<span class="mim-font">
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<strong>Animal Model</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 Friesian cattle in Australia, Harper et al. (1986, 1989) reported that citrullinemia-affected calves had a clinical disease similar to the acute neonatal form of citrullinemia in humans. Dennis et al. (1989) cloned and sequenced bovine cDNA for argininosuccinate synthetase and found 96% identity with the deduced human sequence at the amino acid level. Dennis et al. (1989) found, furthermore, a C-to-T transition converting arginine-86 (CGA) to a nonsense codon (TGA). The loss of an AvaII site could be used for rapid, economical, nonradioactive detection of heterozygotes for bovine citrullinemia. </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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Carritt (1977); Daiger et al. (1984); Daiger et al. (1981); Kennaway
|
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et al. (1975); Kobayashi et al. (1987); Kobayashi et al. (1991);
|
|
Kuhara et al. (1985); McMurray et al. (1963); Mohyuddin et al.
|
|
(1967); Morrow et al. (1967); Saheki et al. (1985); Sase et al.
|
|
(1985); Su et al. (1982); Thoene et al. (1977); Todd and Naylor
|
|
(1992); Van der Zee et al. (1971); Vidailhet et al. (1971); Wick et
|
|
al. (1973)
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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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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Batshaw, M. L., Brusilow, S. W.
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<strong>Valproate-induced hyperammonemia.</strong>
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Ann. Neurol. 11: 319-321, 1982.
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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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Carritt, B., Goldfarb, P. S. G., Hooper, M. L., Slack, C.
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<strong>Chromosome assignment of a human gene for argininosuccinate synthetase expression in Chinese hamster-human somatic cell hybrids.</strong>
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Exp. Cell Res. 106: 71-78, 1977.
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<p class="mim-text-font">
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Carritt, B.
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<strong>Somatic cell genetic evidence for the presence of a gene for citrullinemia on human chromosome 9.</strong>
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Cytogenet. Cell Genet. 19: 44-48, 1977.
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Cathelineau, L., Pham Dinh, D., Briand, P., Kamoun, P.
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<strong>Studies on complementation in argininosuccinate synthetase and argininosuccinate lyase deficiencies in human fibroblasts.</strong>
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Hum. Genet. 57: 282-284, 1981.
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Daiger, S. P., Hoffman, N. S., Wildin, R. S., Su, T.-S.
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<strong>Multiple, independent restriction site polymorphisms in human DNA detected with a cDNA probe to argininosuccinate synthetase (AS).</strong>
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Am. J. Hum. Genet. 36: 736-749, 1984.
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[PubMed: 6089548]
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Daiger, S. P., Wildin, R. S., Su, T.-S.
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<strong>Polymorphic variants of restriction fragments of human DNA detected with a probe to argininosuccinate synthetase. (Abstract)</strong>
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Am. J. Hum. Genet. 33: 136A only, 1981.
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Dennis, J. A., Healy, P. J., Beaudet, A. L., O'Brien, W. E.
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<strong>Molecular definition of bovine argininosuccinate synthetase deficiency.</strong>
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Proc. Nat. Acad. Sci. 86: 7947-7951, 1989.
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[PubMed: 2813370]
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[Full Text: https://doi.org/10.1073/pnas.86.20.7947]
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Engel, K., Hohne, W., Haberle, J.
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<strong>Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene.</strong>
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Hum. Mutat. 30: 300-307, 2009.
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[PubMed: 19006241]
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[Full Text: https://doi.org/10.1002/humu.20847]
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Gucer, S., Asan, E., Atilla, P., Tokatli, A., Caglar, M.
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<strong>Early cirrhosis in a patient with type I citrullinaemia (CTLN1).</strong>
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J. Inherit. Metab. Dis. 27: 541-542, 2004.
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[PubMed: 15334737]
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[Full Text: https://doi.org/10.1023/b:boli.0000037401.63596.de]
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Haberle, J., Pauli, S., Linnebank, M., Kleijer, W. J., Bakker, H. D., Wanders, R. J. A., Harms, E., Koch, H. G.
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<strong>Structure of the human argininosuccinate synthetase gene and an improved system for molecular diagnostics in patients with classical and mild citrullinemia.</strong>
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Hum. Genet. 110: 327-333, 2002.
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Harper, P. A., Healy, P. J., Dennis, J. A., O'Brien, J. J., Rayward, D. H.
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<strong>Citrullinaemia as a cause of neurological disease in neonatal Friesian calves.</strong>
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Aust. Vet. J. 63: 378-379, 1986.
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[PubMed: 3827779]
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[Full Text: https://doi.org/10.1111/j.1751-0813.1986.tb02907.x]
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<p class="mim-text-font">
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Harper, P. A. W., Healy, P. J., Dennis, J. A.
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<strong>Animal model of human disease: citrullinemia (argininosuccinate synthetase deficiency).</strong>
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Am. J. Path. 135: 1213-1215, 1989.
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[PubMed: 2596577]
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<p class="mim-text-font">
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Issa, A. R. A., Yadav, G., Teebi, A. S.
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<strong>Intrafamilial phenotypic variability in citrullinaemia: report of a family.</strong>
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J. Inherit. Metab. Dis. 11: 306-307, 1988.
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[PubMed: 3148074]
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[Full Text: https://doi.org/10.1007/BF01800377]
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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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Jackson, M. J., Surh, L. C., O'Brien, W. E., Beaudet, A. L.
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|
<strong>Assignment of the structural gene for argininosuccinate synthetase to proximal mouse chromosome 2.</strong>
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Genomics 6: 545-547, 1990.
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[PubMed: 1970331]
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[Full Text: https://doi.org/10.1016/0888-7543(90)90484-c]
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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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Kennaway, N. G., Harwood, P. J., Ramberg, D. A., Koler, R. D., Buist, N. R. M.
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<strong>Citrullinemia: enzymatic evidence for genetic heterogeneity.</strong>
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Pediat. Res. 9: 554-558, 1975.
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[PubMed: 1161343]
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[Full Text: https://doi.org/10.1203/00006450-197506000-00008]
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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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Kobayashi, K., Ichiki, H., Saheki, T., Tatsuno, M., Uchiyama, C., Nukada, O., Yoda, T.
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|
<strong>Structure of an abnormal messenger RNA for argininosuccinate synthetase in citrullinemia.</strong>
|
|
Hum. Genet. 76: 27-32, 1987.
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[PubMed: 3570300]
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[Full Text: https://doi.org/10.1007/BF00283045]
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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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Kobayashi, K., Jackson, M. J., Tick, D. B., O'Brien, W. E., Beaudet, A. L.
|
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<strong>Characterization of nine mutant alleles causing citrullinemia. (Abstract)</strong>
|
|
Am. J. Hum. Genet. 45 (suppl.): A201 only, 1989.
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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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Kobayashi, K., Jackson, M. J., Tick, D. B., O'Brien, W. E., Beaudet, A. L.
|
|
<strong>Heterogeneity of mutations in argininosuccinate synthetase causing human citrullinemia.</strong>
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|
J. Biol. Chem. 265: 11361-11367, 1990.
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[PubMed: 2358466]
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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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Kobayashi, K., Kakinoki, H., Fukushige, T., Shaheen, N., Terazono, H., Saheki, T.
|
|
<strong>Nature and frequency of mutations in the argininosuccinate synthetase gene that cause classical citrullinemia.</strong>
|
|
Hum. Genet. 96: 454-463, 1995.
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[PubMed: 7557970]
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[Full Text: https://doi.org/10.1007/BF00191806]
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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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Kobayashi, K., Rosenbloom, C., Beaudet, A. L., O'Brien, W. E.
|
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<strong>Additional mutations in argininosuccinate synthetase causing citrullinemia.</strong>
|
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Molec. Biol. Med. 8: 95-100, 1991.
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[PubMed: 1943692]
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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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Kobayashi, K., Saheki, T., Imamura, Y., Noda, T., Inoue, I., Matuo, S., Hagihara, S., Nomiyama, H., Jinno, Y., Shimada, K.
|
|
<strong>Messenger RNA coding for argininosuccinate synthetase in citrullinemia.</strong>
|
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Am. J. Hum. Genet. 38: 667-680, 1986.
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[PubMed: 3459354]
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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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Kobayashi, K., Shaheen, N., Terazono, H., Saheki, T.
|
|
<strong>Mutations in argininosuccinate synthetase mRNA of Japanese patients, causing classical citrullinemia.</strong>
|
|
Am. J. Hum. Genet. 55: 1103-1112, 1994. Note: Erratum: Am. J. Hum. Genet. 56: 356 only, 1995.
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[PubMed: 7977368]
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