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Entry
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- #207800 - ARGININEMIA
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- OMIM
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<p>
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<span class="h4">#207800</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/207800"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#clinicalManagement">Clinical Management</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#populationGenetics">Population Genetics</a>
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<a href="#history">History</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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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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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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</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 class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=ARGININEMIA" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=417&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="#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/NBK1159/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Arginase Deficiency</a></div><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>
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</div>
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<div><a href="https://www.diseaseinfosearch.org/x/574" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://medlineplus.gov/genetics/condition/arginase-deficiency" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=207800[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/Arginine.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/Arginine-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="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=90" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/d086727e-c8c9-4b1a-8f36-3839b14e2f1e/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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<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:9278" 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/207800" 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/OMIA000060/" 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><a href="https://wormbase.org/resources/disease/DOID:9278" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://catalog.coriell.org/Search?q=OmimNum:207800" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 23501004<br />
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<strong>ICD10CM:</strong> E72.21<br />
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<strong>ORPHA:</strong> 90<br />
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<strong>DO:</strong> 9278<br />
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">ICD+</a>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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207800
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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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ARGININEMIA
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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>
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<span class="mim-font">
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ARGINASE DEFICIENCY<br />
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HYPERARGININEMIA<br />
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ARG1 DEFICIENCY
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
|
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
|
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
|
|
<tr class="active">
|
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<th>
|
|
Location
|
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</th>
|
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<th>
|
|
Phenotype
|
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</th>
|
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<th>
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Phenotype <br /> MIM number
|
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</th>
|
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<th>
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Inheritance
|
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</th>
|
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<th>
|
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Phenotype <br /> mapping key
|
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</th>
|
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<th>
|
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Gene/Locus
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</th>
|
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<th>
|
|
Gene/Locus <br /> MIM number
|
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</th>
|
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</tr>
|
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</thead>
|
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<tbody>
|
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|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/6/856?start=-3&limit=10&highlight=856">
|
|
6q23.2
|
|
</a>
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Argininemia
|
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|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/207800"> 207800 </a>
|
|
</span>
|
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</td>
|
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<td>
|
|
<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>
|
|
<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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|
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</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
ARG1
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608313"> 608313 </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/207800" 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>
|
|
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|
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|
|
<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/207800" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/207800" 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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|
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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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<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">
|
|
|
|
- Growth failure <span class="mim-feature-ids hidden">[SNOMEDCT: <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=C0878787&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0878787</a>, <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> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001510</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001510</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> External Features </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Anorexia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/79890006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">79890006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R63.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R63.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/783.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">783.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0426579&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0426579</a>, <a href="https://bioportal.bioontology.org/search?q=C0003123&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003123</a>, <a href="https://bioportal.bioontology.org/search?q=C1971624&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1971624</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004396" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004396</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0002039" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002039</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002039" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002039</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">
|
|
|
|
- Progressive spastic quadriplegia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859736&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859736</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002478" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002478</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002478" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002478</a>]</span><br /> -
|
|
Seizures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/91175000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">91175000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0036572&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0036572</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001250</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001250</a>]</span><br /> -
|
|
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 /> -
|
|
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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</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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- Hyperactivity <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/44548000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">44548000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0424295&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0424295</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000752" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000752</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000752" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000752</a>]</span><br /> -
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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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- Protein intolerance <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1396243&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1396243</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001984" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001984</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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Hyperargininemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/23501004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">23501004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E72.21" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E72.21</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5399765&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5399765</a>, <a href="https://bioportal.bioontology.org/search?q=C0268548&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0268548</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0500153" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0500153</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0500153" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0500153</a>]</span><br /> -
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Diaminoaciduria (argininuria, lysinuria, cystinuria, ornithinuria) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5435649&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5435649</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008339" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008339</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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Pyrimidinuria <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859739&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859739</a>]</span><br /> -
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Elevated CSF amino acids (arginine, ornithine, aspartate, threonine, glycine, and methionine) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859740&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859740</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> MISCELLANEOUS </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Prevalence is estimated to be 1 in 1,100,000<br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> MOLECULAR BASIS </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Caused by mutation in the arginase gene (ARG1, <a href="/entry/608313#0001">608313.0001</a>)<br />
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</span>
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</div>
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</div>
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</div>
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<div class="text-right">
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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</div>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</span>
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</span>
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</h4>
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<div id="mimTextFold" class="collapse in ">
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because argininemia is caused by homozygous or compound heterozygous mutation in the arginase-1 gene (ARG1; <a href="/entry/608313">608313</a>) on chromosome 6q23.</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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<a id="description" class="mim-anchor"></a>
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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<div id="mimDescriptionFold" class="collapse in ">
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<span class="mim-text-font">
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<p>Arginase deficiency is an autosomal recessive inborn error of metabolism caused by a defect in the final step in the urea cycle, the hydrolysis of arginine to urea and ornithine.</p><p>Urea cycle disorders are characterized by the triad of hyperammonemia, encephalopathy, and respiratory alkalosis. Five disorders involving different defects in the biosynthesis of the enzymes of the urea cycle have been described: ornithine transcarbamylase deficiency (<a href="/entry/311250">311250</a>), carbamyl phosphate synthetase deficiency (<a href="/entry/237300">237300</a>), argininosuccinate synthetase deficiency, or citrullinemia (<a href="/entry/215700">215700</a>), argininosuccinate lyase deficiency (<a href="/entry/207900">207900</a>), and arginase deficiency.</p>
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</span>
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<div>
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<br />
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<div>
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<a id="clinicalFeatures" class="mim-anchor"></a>
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<h4 href="#mimClinicalFeaturesFold" id="mimClinicalFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimClinicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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</h4>
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<div id="mimClinicalFeaturesFold" class="collapse in mimTextToggleFold">
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<span class="mim-text-font">
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<p>Terheggen et al. (<a href="#28" class="mim-tip-reference" title="Terheggen, H. G., Schwenk, A., Lowenthal, A., Van Sande, M., Colombo, J. P. <strong>Argininaemia with arginase deficiency. (Letter)</strong> Lancet 294: 748-749, 1969. Note: Originally Volume II."None>1969</a>, <a href="#29" class="mim-tip-reference" title="Terheggen, H. G., Schwenk, A., Lowenthal, A., Van Sande, M., Colombo, J. P. <strong>Hyperargininaemie mit Arginasedefekt. Eine Neue familiaere Stoffwechselstoerung. I. Klinische Befunde.</strong> Z. Kinderheilk. 107: 298-312, 1970.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5438971/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5438971</a>]" pmid="5438971">1970</a>) described 2 sisters, aged 18 months and 5 years, with spastic paraplegia, epileptic seizures, and severe mental retardation. The parents were related. Arginine levels were high in the blood and spinal fluid of the patients, with intermediate elevations in both parents and in 2 healthy sibs. Arginase activity in red cells was very low in the patients and intermediate in the parents. In 1971 another affected girl was born into the family observed by Terheggen et al. (<a href="#26" class="mim-tip-reference" title="Terheggen, H. G., Lavinha, F., Colombo, J. P., Van Sande, M., Lowenthal, A. <strong>Familial hyperargininemia.</strong> J. Genet. Hum. 20: 69-84, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4643877/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4643877</a>]" pmid="4643877">1972</a>, <a href="#27" class="mim-tip-reference" title="Terheggen, H. G., Lowenthal, A., Lavinha, F., Colombo, J. P. <strong>Familial hyperargininaemia.</strong> Arch. Dis. Child. 50: 57-62, 1975.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1124944/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1124944</a>] [<a href="https://doi.org/10.1136/adc.50.1.57" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1124944">1975</a>). There was late introduction of a low protein diet, but the infant developed severe mental retardation, athetosis, and spasticity. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5438971+1124944+4643877" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Cederbaum, S. D., Shaw, K. N. F., Valente, M. <strong>Hyperargininemia.</strong> J. Pediat. 90: 569-573, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/839368/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">839368</a>] [<a href="https://doi.org/10.1016/s0022-3476(77)80368-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="839368">Cederbaum et al. (1977)</a> reported a 7.5-year-old boy with progressive psychomotor retardation, behavior disturbance, and spasticity, who had growth arrest from age 3 years. Plasma arginine was increased, and red blood cell arginase activity was less than 1% of normal, whereas it was half-normal in both parents, 2 unaffected sibs, and in his paternal grandfather. <a href="#5" class="mim-tip-reference" title="Cederbaum, S. D., Shaw, K. N. F., Valente, M. <strong>Hyperargininemia.</strong> J. Pediat. 90: 569-573, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/839368/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">839368</a>] [<a href="https://doi.org/10.1016/s0022-3476(77)80368-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="839368">Cederbaum et al. (1977)</a> concluded that arginase deficiency is an autosomal recessive disorder. <a href="#15" class="mim-tip-reference" title="Michels, V. V., Beaudet, A. L. <strong>Arginase deficiency in multiple tissues in argininemia.</strong> Clin. Genet. 13: 61-67, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/624188/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">624188</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1978.tb04128.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="624188">Michels and Beaudet (1978)</a> reported an affected Mexican child with growth retardation, microcephaly, mental retardation, spasticity, and epileptiform discharges on EEG. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=839368+624188" 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 province of Quebec, <a href="#18" class="mim-tip-reference" title="Qureshi, I. A., Letarte, J., Ouellet, R., Larochelle, J., Lemieux, B. <strong>A new French-Canadian family affected by hyperargininaemia.</strong> J. Inherit. Metab. Dis. 6: 179-182, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6422160/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6422160</a>] [<a href="https://doi.org/10.1007/BF02310878" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6422160">Qureshi et al. (1983)</a> identified an affected French Canadian family. Both parents showed activity of arginase 32 to 38% of normal. <a href="#35" 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. (5th ed.)</strong> New York: McGraw-Hill (pub.) 1983. Pp. 402-438."None>Walser (1983)</a> stated that only 8 kindreds (with 13 patients) had been reported and that 4 of these (with 7 patients) were Spanish or Spanish-American. <a href="#14" class="mim-tip-reference" title="Jorda, A., Rubio, V., Portoles, M., Vilas, J., Garcia-Pino, J. <strong>A new case of arginase deficiency in a Spanish male.</strong> J. Inherit. Metab. Dis. 9: 393-397, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3104676/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3104676</a>] [<a href="https://doi.org/10.1007/BF01800491" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3104676">Jorda et al. (1986)</a> described an unusually severe case of arginase deficiency in a Spanish infant who showed marked protein intolerance early in life. The levels of red cell arginase in the parents and 1 sister were consistent with heterozygosity. <a href="#4" class="mim-tip-reference" title="Brockstedt, M., Smit, L. M. E., de Grauw, A. J. C., van der Klei-van Moorsel, J. M., Jakobs, C. <strong>A new case of hyperargininaemia: neurological and biochemical findings prior to and during dietary treatment.</strong> Europ. J. Pediat. 149: 341-343, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2311630/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2311630</a>] [<a href="https://doi.org/10.1007/BF02171562" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2311630">Brockstedt et al. (1990)</a> described argininemia in a 4-year-old boy born of consanguineous Pakistani parents. He had microcephaly and spastic tetraplegia. Pregnancy and birth were uneventful and psychomotor development during the first 2 years of life were presumably normal. <a href="#34" class="mim-tip-reference" title="Vilarinho, L., Senra, V., Vilarinho, A., Barbosa, C., Parvy, P., Rabier, D., Kamoun, P. <strong>A new case of argininaemia without spastic diplegia in a Portuguese male.</strong> J. Inherit. Metab. Dis. 13: 751-752, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2246859/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2246859</a>] [<a href="https://doi.org/10.1007/BF01799578" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2246859">Vilarinho et al. (1990)</a> described argininemia in a 5-year-old Portuguese boy who did not show spastic diplegia. His first manifestation, at 3.5 years of age, was a partial seizure for 15 minutes without loss of consciousness. Six months later he showed the same clinical features over a period of 15 days. The electroencephalogram showed partial left temporal and paracentral spikes. At 4.5 years of age he began to have episodes of vomiting, hypotonia, irritability, and ataxia. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2311630+2246859+6422160+3104676" 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 patient dying with severe argininemia, <a href="#10" class="mim-tip-reference" title="Grody, W. W., Argyle, C., Kern, R. M., Dizikes, G. J., Spector, E. B., Strickland, A. D., Klein, D., Cederbaum, S. D. <strong>Differential expression of the two human arginase genes in hyperargininemia: enzymatic, pathologic, and molecular analysis.</strong> J. Clin. Invest. 83: 602-609, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2913054/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2913054</a>] [<a href="https://doi.org/10.1172/JCI113923" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2913054">Grody et al. (1989)</a> demonstrated total absence of arginase I in tissues, whereas arginase II was increased about 4-fold in kidney. The patient, an offspring of first-cousin parents of Cambodian descent, died at 6 months of age. Although Southern blot analysis failed to show a substantial deletion in the ARG1 gene, no cross-reactive arginine I protein could be demonstrated by immunoprecipitation-competition and Western blot analysis. Induction studies in cell lines that express only the type II isozyme indicated that its activity could be enhanced several fold by exposure to elevated arginine levels. This presumably was the mechanism for the high level of the enzyme in the patient and explained the fact that there is persistent ureagenesis in this disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2913054" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Christmann, D., Hirsch, E., Mutschler, V., Collard, M., Marescaux, C., Colombo, J. P. <strong>Argininemie congenitale diagnostiquee tardivement a l'occasion de la prescription de valproate de sodium.</strong> Rev. Neurol. 146: 764-766, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2291040/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2291040</a>]" pmid="2291040">Christmann et al. (1990)</a> described a patient in whom the diagnosis of argininemia was first made at the age of 18 years when treatment with sodium valproate was initiated for seizures. The patient had psychomotor regression since the age of 15 months with paraparesis since she was 3 years old. By the age of 18, she was bedridden. Five days after the initiation of valproate therapy, she went into a state of stupor and was found to have marked hyperammonemia. 'Valproate sensitivity' has been observed also with ornithine transcarbamylase deficiency and citrullinemia, 2 other causes of hyperammonemia. <a href="#20" class="mim-tip-reference" title="Scheuerle, A. E., McVie, R., Beaudet, A. L., Shapira, S. K. <strong>Arginase deficiency presenting as cerebral palsy.</strong> Pediatrics 91: 995-996, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8474825/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8474825</a>]" pmid="8474825">Scheuerle et al. (1993)</a> described 2 unrelated patients, aged 9 and 5 years, who had been thought to have cerebral palsy and were later found to have arginase deficiency. The experience suggested that the condition may be underdiagnosed because of its relatively mild symptoms. The authors noted that arginase deficiency does not commonly have the severe hyperammonemia seen with other urea cycle disorders. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8474825+2291040" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Cowley, D. M., Bowling, F. G., McGill, J. J., van Dongen, J., Morris, D. <strong>Adult-onset arginase deficiency.</strong> J. Inherit. Metab. Dis. 21: 677-678, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9762606/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9762606</a>] [<a href="https://doi.org/10.1023/a:1005492819527" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9762606">Cowley et al. (1998)</a> described an 18-year-old woman, born of related parents, who had been well as a child with normal growth and development. She presented for investigation of collapse with sudden onset of spastic diplegia. She had mild, tender hepatomegaly. Over the previous 6 months, she had been ill with episodic nausea and vomiting, and had experienced some degree of lower limb weakness over the previous 2 weeks. The spastic diplegia in this patient was considered stereotypical of arginase deficiency. No arginase activity was detected in liver tissue; red cell arginase activity was low normal. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9762606" 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="#16" class="mim-tip-reference" title="Picker, J. D., Puga, A. C., Levy, H. L., Marsden, D., Shih, V. E., DeGirolami, U., Ligon, K. L., Cederbaum, S. D., Kern, R. M., Cox, G. F. <strong>Arginase deficiency with lethal neonatal expression: evidence for the glutamine hypothesis of cerebral edema.</strong> J. Pediat. 142: 349-352, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12640389/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12640389</a>] [<a href="https://doi.org/10.1067/mpd.2003.97" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12640389">Picker et al. (2003)</a> described a rare neonatal and fatal presentation of arginase deficiency in a 2-day-old female with markedly elevated plasma arginine, lactate, and CSF glutamine, and modestly elevated blood ammonia, who developed hypertonia and tachypnea followed by intractable seizures and global cerebral edema. The infant also had an atypical presence of the ARG2 isozyme (<a href="/entry/107830">107830</a>) in the liver. <a href="#16" class="mim-tip-reference" title="Picker, J. D., Puga, A. C., Levy, H. L., Marsden, D., Shih, V. E., DeGirolami, U., Ligon, K. L., Cederbaum, S. D., Kern, R. M., Cox, G. F. <strong>Arginase deficiency with lethal neonatal expression: evidence for the glutamine hypothesis of cerebral edema.</strong> J. Pediat. 142: 349-352, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12640389/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12640389</a>] [<a href="https://doi.org/10.1067/mpd.2003.97" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12640389">Picker et al. (2003)</a> suggested that the cerebral edema and the fatal course, both of which have been reported in older patients, were due to the increased intracellular osmolarity of the elevated glutamine. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12640389" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="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. Arginase deficiency occurred in 22 patients (3.5%). <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><p><a href="#9" class="mim-tip-reference" title="Diez-Fernandez, C., Rufenacht, V., Gemperle, C., Fingerhut, R., Haberle, J. <strong>Mutations and common variants in the human arginase 1 (ARG1) gene: impact on patients diagnostics, and protein structure considerations.</strong> Hum. Mutat. 39: 1029-1050, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29726057/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29726057</a>] [<a href="https://doi.org/10.1002/humu.23545" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29726057">Diez-Fernandez et al. (2018)</a> summarized data on 112 reported patients with argininemia, including their own. The majority of patients had later-onset disease, and the severity of the disease ranged from no clinical symptoms to severe mental retardation, seizures, and spastic paraplegia. All patients with neonatal onset presented with peak arginine concentrations (pretreatment) of greater than 971 umol/l, whereas nearly all patients with later onset (98%) presented with initial arginine values of less than 971 umol/l. All patients identified by newborn screening had mild or no clinical symptoms. Ammonia was not typically elevated, highlighting that the urea cycle is not interrupted in argininemia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29726057" 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="#17" class="mim-tip-reference" title="Qureshi, I. A., Letarte, J., Ouellet, R., Batshaw, M. L., Brusilow, S. <strong>Treatment of hyperargininemia with sodium benzoate and arginine-restricted diet.</strong> J. Pediat. 104: 473-476, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6707802/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6707802</a>] [<a href="https://doi.org/10.1016/s0022-3476(84)81120-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6707802">Qureshi et al. (1984)</a> recommended a combination of benzoate with arginine restriction in the management of hyperargininemia. <a href="#2" class="mim-tip-reference" title="Bernar, J., Hanson, R. A., Kern, R., Phoenix, B., Shaw, K. N. F., Cederbaum, S. D. <strong>Arginase deficiency in a 12-year-old boy with mild impairment of intellectual function.</strong> J. Pediat. 108: 432-435, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3950825/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3950825</a>] [<a href="https://doi.org/10.1016/s0022-3476(86)80891-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3950825">Bernar et al. (1986)</a> reported the case of a 12-year-old boy with less marked elevations of plasma arginine and less severe intellectual impairment. Both were attributed to a self-selected low-protein diet. Therapy with sodium benzoate and dietary restriction caused an impressive improvement. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3950825+6707802" 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="Diez-Fernandez, C., Rufenacht, V., Gemperle, C., Fingerhut, R., Haberle, J. <strong>Mutations and common variants in the human arginase 1 (ARG1) gene: impact on patients diagnostics, and protein structure considerations.</strong> Hum. Mutat. 39: 1029-1050, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29726057/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29726057</a>] [<a href="https://doi.org/10.1002/humu.23545" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29726057">Diez-Fernandez et al. (2018)</a> summarized data on 112 reported patients with argininemia, including their own. Patients are treated with nitrogen scavengers, severe restriction of natural protein, and essential amino acids supplementation. Enzyme replacement has also been used successfully. In patients with neonatal-onset argininemia under treatment, average arginine levels ranged between 163 and 489 umol/l, and in patients with late-onset disease under treatment, average arginine levels ranged between 163 and 381 umol/l. These data demonstrate the difficulty of achieving arginine levels under 200 umol/l, as has been recommended. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29726057" 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 clinical features and management of argininemia, <a href="#3" class="mim-tip-reference" title="Bin Sawad, A., Jackimiec, J., Bechter, M., Trucillo, A., Lindsley, K., Bhagat, A., Uyei, J., Diaz, G. A. <strong>Epidemiology, methods of diagnosis, and clinical management of patients with arginase 1 deficiency (ARG1-D): A systematic review.</strong> Molec. Genet. Metab. 137: 153-163, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/36049366/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">36049366</a>] [<a href="https://doi.org/10.1016/j.ymgme.2022.08.005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="36049366">Bin Sawad et al. (2022)</a> reported that treatment with pegzilarginase enzyme replacement therapy in a phase 1/2 trial in patients with argininemia resulted in reduction of plasma arginine in all treated patients and clinically meaningful improvements in mobility measures in 79% of patients. A phase 3 trial in patients with argininemia also demonstrated that treatment with pegzilarginase led to a reduction in plasma arginine and a trend toward improved mobility. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=36049366" 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="#12" class="mim-tip-reference" title="Haraguchi, Y., Aparicio, J. M., Takiguchi, M., Akaboshi, I., Yoshino, M., Mori, M., Matsuda, I. <strong>Molecular basis of argininemia: identification of two discrete frame-shift deletions in the liver-type arginase gene.</strong> J. Clin. Invest. 86: 347-350, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2365823/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2365823</a>] [<a href="https://doi.org/10.1172/JCI114707" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2365823">Haraguchi et al. (1990)</a> and <a href="#32" class="mim-tip-reference" title="Uchino, T., Snyderman, S. E., Lambert, M., Qureshi, I. A., Shapira, S. K., Sansaricq, C., Smit, L. M. E., Jakobs, C., Matsuda, I. <strong>Molecular basis of phenotypic variation in patients with argininemia.</strong> Hum. Genet. 96: 255-260, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7649538/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7649538</a>] [<a href="https://doi.org/10.1007/BF00210403" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7649538">Uchino et al. (1995)</a> demonstrated autosomal recessive inheritance of argininemia. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7649538+2365823" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a study of 20 persons homozygous or heterozygous for arginase deficiency, <a href="#11" class="mim-tip-reference" title="Grody, W. W., Klein, D., Dodson, A. E., Kern, R. M., Wissmann, P. B., Goodman, B. K., Bassand, P., Marescau, B., Kang, S. S., Leonard, J. V. <strong>Molecular genetic study of human arginase deficiency.</strong> Am. J. Hum. Genet. 50: 1281-1290, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1598908/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1598908</a>]" pmid="1598908">Grody et al. (1992)</a> found no substantial structural ARG1 gene deletions or other rearrangements by Southern blot analysis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1598908" 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 Japanese girl with argininemia, <a href="#12" class="mim-tip-reference" title="Haraguchi, Y., Aparicio, J. M., Takiguchi, M., Akaboshi, I., Yoshino, M., Mori, M., Matsuda, I. <strong>Molecular basis of argininemia: identification of two discrete frame-shift deletions in the liver-type arginase gene.</strong> J. Clin. Invest. 86: 347-350, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2365823/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2365823</a>] [<a href="https://doi.org/10.1172/JCI114707" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2365823">Haraguchi et al. (1990)</a> found compound heterozygosity for 2 frameshift deletions in the ARG1 gene (<a href="/entry/608313#0001">608313.0001</a>-<a href="/entry/608313#0002">608313.0002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2365823" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 11 patients with argininemia, 9 separate mutations representing 21 of the 22 mutant alleles were identified by <a href="#32" class="mim-tip-reference" title="Uchino, T., Snyderman, S. E., Lambert, M., Qureshi, I. A., Shapira, S. K., Sansaricq, C., Smit, L. M. E., Jakobs, C., Matsuda, I. <strong>Molecular basis of phenotypic variation in patients with argininemia.</strong> Hum. Genet. 96: 255-260, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7649538/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7649538</a>] [<a href="https://doi.org/10.1007/BF00210403" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7649538">Uchino et al. (1995)</a> (see, e.g., <a href="/entry/608313#0008">608313.0008</a>-<a href="/entry/608313#0011">608313.0011</a>). Four of these mutations, accounting for 64% of the mutant alleles, were expressed in vitro and were found to be severe or moderate. Patients with at least one 'moderate' mutant allele responded well to dietary treatment, whereas patients with 2 'severe' alleles did not respond to dietary treatment. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7649538" 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="Diez-Fernandez, C., Rufenacht, V., Gemperle, C., Fingerhut, R., Haberle, J. <strong>Mutations and common variants in the human arginase 1 (ARG1) gene: impact on patients diagnostics, and protein structure considerations.</strong> Hum. Mutat. 39: 1029-1050, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29726057/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29726057</a>] [<a href="https://doi.org/10.1002/humu.23545" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29726057">Diez-Fernandez et al. (2018)</a> summarized data on all published and 12 novel ARG1 mutations, totaling 66 mutations from 112 patients. Missense mutations were the most common (30), followed by deletions (15), splicing (10), nonsense (7), duplications (2), insertions (1), and a translation initiation codon mutation. Most of the mutations (48) were found in single families, with 15 in up to 4 families and only 3 mutations (T134I; G235R, <a href="/entry/608313#0006">608313.0006</a>; and R21X, <a href="/entry/608313#0012">608313.0012</a>) found in 5, 14, and 16 families, respectively. The 30 missense mutations were distributed unevenly throughout the 8 exons, clustering in exons 1, 4, and 7. No clear genotype-phenotype correlation was observed. Even patients carrying homozygous 'devastating' mutations (e.g., nonsense and splicing) could develop later onset of the disease. Most ARG1 mutations led to late-onset disease; 6 mutations were associated with neonatal-onset disease (I8K, G106R, c.466-2A-G, c.77delA, c.262_265delAAGA (<a href="/entry/608313#0001">608313.0001</a>), and c.647_648ins32). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29726057" 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="#21" class="mim-tip-reference" title="Shih, V. E., Jones, C. T., Levy, H. L., Madigan, P. M. <strong>Arginase deficiency in Macaca fascicularis. I. Arginase activity and arginine concentration in erythrocytes and liver.</strong> Pediat. Res. 6: 548-551, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4625814/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4625814</a>] [<a href="https://doi.org/10.1203/00006450-197206000-00003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4625814">Shih et al. (1972)</a> found high blood arginine levels and low red cell arginase in Macaca fascicularis monkeys in the New England Regional Primate Center, indicating arginase deficiency. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4625814" 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="#13" class="mim-tip-reference" title="Iyer, R. K., Yoo, P. K., Kern, R. M., Rozengurt, N., Tsoa, R., O'Brien, W. E., Yu, H., Grody, W. W., Cederbaum, S. D. <strong>Mouse model for human arginase deficiency.</strong> Molec. Cell. Biol. 22: 4491-4498, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12052859/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12052859</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12052859[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1128/MCB.22.13.4491-4498.2002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12052859">Iyer et al. (2002)</a> produced Arg1-knockout mice that duplicated several pathobiologic aspects of human argininemia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12052859" 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="#8" class="mim-tip-reference" title="Deignan, J. L., Marescau, B., Livesay, J. C., Iyer, R. K., De Deyn, P. P., Cederbaum, S. D., Grody, W. W. <strong>Increased plasma and tissue guanidino compounds in a mouse model of hyperargininemia.</strong> Molec. Genet. Metab. 93: 172-178, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17997338/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17997338</a>] [<a href="https://doi.org/10.1016/j.ymgme.2007.09.016" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17997338">Deignan et al. (2008)</a> stated that several guanidino compounds, which are direct or indirect metabolites of arginine, are elevated in the blood of uremic patients and in the plasma and cerebrospinal fluid of hyperargininemic patients. They found that the guanidino compounds alpha-keto-delta-guanidinovaleric acid, alpha-N-acetylarginine, and argininic acid were increased in brain tissue from the Arg1-deficient mouse model of hyperargininemia. Several guanidino compounds were also elevated in plasma, liver, and kidney. <a href="#8" class="mim-tip-reference" title="Deignan, J. L., Marescau, B., Livesay, J. C., Iyer, R. K., De Deyn, P. P., Cederbaum, S. D., Grody, W. W. <strong>Increased plasma and tissue guanidino compounds in a mouse model of hyperargininemia.</strong> Molec. Genet. Metab. 93: 172-178, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17997338/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17997338</a>] [<a href="https://doi.org/10.1016/j.ymgme.2007.09.016" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17997338">Deignan et al. (2008)</a> concluded that guanidino compounds may be the neuropathogenic agents responsible for complications in arginase deficiency. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17997338" 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 argininemia is estimated to be 1 in 1,100,000 (<a href="#30" 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>The observation that researchers working with the Shope virus have low blood arginine led to the use of Shope virus in the treatment of this disorder. <a href="#19" class="mim-tip-reference" title="Rogers, S., Lowenthal, A., Terheggen, H. G., Columbo, J. P. <strong>Induction of arginase activity with the Shope papilloma virus in tissue culture cells from an argininemic patient.</strong> J. Exp. Med. 137: 1091-1096, 1973.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4348278/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4348278</a>] [<a href="https://doi.org/10.1084/jem.137.4.1091" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4348278">Rogers et al. (1973)</a> reported an induction of arginase activity by inoculation of the Shope virus into tissue cultures of an argininemic patient's fibroblasts. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4348278" 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="#Snyderman1977" class="mim-tip-reference" title="Snyderman, S. E., Sansaricq, C., Chen, W. S., Norton, P. M., Phansalkar, S. V. <strong>Argininemia.</strong> J. Pediat. 90: 563-568, 1977.">Snyderman et al. (1977)</a>; <a href="#Snyderman1979" class="mim-tip-reference" title="Snyderman, S. E., Sansaricq, C., Norton, P. M., Goldstein, F. <strong>Argininemia treated from birth.</strong> J. Pediat. 95: 61-63, 1979.">Snyderman et al. (1979)</a>; <a href="#Spector1980" class="mim-tip-reference" title="Spector, E. B., Kiernan, M. B., Cederbaum, S. D. <strong>Properties of fetal and adult red blood cell arginase: a possible diagnostic test for arginase deficiency.</strong> Am. J. Hum. Genet. 32: 79-87, 1980.">Spector et al.
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Leroy (1977)</a>
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[<a href="https://doi.org/10.1007/BF02171562" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0022-3476(77)80368-5" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1023/a:1005492819527" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/j.ymgme.2007.09.016" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/humu.23545" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1172/JCI113923" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1172/JCI114707" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12640389/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12640389</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12640389" 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/10.1067/mpd.2003.97" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0022-3476(84)81120-8" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF02310878" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1084/jem.137.4.1091" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1203/00006450-197206000-00003" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0022-3476(77)80367-3" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0022-3476(79)80082-7" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1203/00006450-198312000-00003" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/adc.50.1.57" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1001/archneurol.2009.333" target="_blank">Full Text</a>]
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Walser, M.
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<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. (5th ed.)</strong>
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New York: McGraw-Hill (pub.) 1983. Pp. 402-438.
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Hilary J. Vernon - updated : 12/09/2022
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Sonja A. Rasmussen - updated : 01/11/2019<br>Ada Hamosh - updated : 1/8/2015<br>Cassandra L. Kniffin - updated : 10/11/2010<br>Patricia A. Hartz - updated : 8/5/2005<br>Natalie E. Krasikov - updated : 2/10/2004<br>Cassandra L. Kniffin - reorganized : 12/4/2003<br>Carol A. Bocchini - updated : 12/14/1999<br>Victor A. McKusick - updated : 10/13/1998<br>Jennifer P. Macke - updated : 7/14/1997
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Creation Date:
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<span class="mim-text-font">
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Victor A. McKusick : 6/3/1986
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carol : 12/02/2024
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carol : 10/25/2023<br>carol : 10/25/2023<br>carol : 12/13/2022<br>carol : 12/12/2022<br>carol : 12/09/2022<br>carol : 01/15/2019<br>carol : 01/14/2019<br>carol : 01/11/2019<br>carol : 07/07/2016<br>carol : 7/24/2015<br>alopez : 1/8/2015<br>terry : 4/21/2011<br>wwang : 10/29/2010<br>ckniffin : 10/11/2010<br>terry : 2/11/2009<br>mgross : 1/7/2009<br>mgross : 8/8/2005<br>terry : 8/5/2005<br>carol : 2/10/2004<br>carol : 12/4/2003<br>ckniffin : 12/3/2003<br>mcapotos : 12/14/1999<br>carol : 12/14/1999<br>terry : 6/11/1999<br>carol : 10/19/1998<br>terry : 10/13/1998<br>carol : 9/3/1998<br>jenny : 9/2/1997<br>mark : 9/1/1997<br>jenny : 8/13/1997<br>mimadm : 11/12/1995<br>mark : 10/2/1995<br>davew : 7/26/1994<br>carol : 4/11/1994<br>warfield : 3/23/1994<br>carol : 11/15/1993
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<strong>#</strong> 207800
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ARGININEMIA
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ARGINASE DEFICIENCY<br />
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HYPERARGININEMIA<br />
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ARG1 DEFICIENCY
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<strong>SNOMEDCT:</strong> 23501004;
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<strong>ICD10CM:</strong> E72.21;
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<strong>ORPHA:</strong> 90;
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<strong>DO:</strong> 9278;
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<strong>Phenotype-Gene Relationships</strong>
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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6q23.2
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Argininemia
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207800
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Autosomal recessive
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<span class="mim-font">
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3
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ARG1
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608313
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because argininemia is caused by homozygous or compound heterozygous mutation in the arginase-1 gene (ARG1; 608313) on chromosome 6q23.</p>
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<strong>Description</strong>
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<p>Arginase deficiency is an autosomal recessive inborn error of metabolism caused by a defect in the final step in the urea cycle, the hydrolysis of arginine to urea and ornithine.</p><p>Urea cycle disorders are characterized by the triad of hyperammonemia, encephalopathy, and respiratory alkalosis. Five disorders involving different defects in the biosynthesis of the enzymes of the urea cycle have been described: ornithine transcarbamylase deficiency (311250), carbamyl phosphate synthetase deficiency (237300), argininosuccinate synthetase deficiency, or citrullinemia (215700), argininosuccinate lyase deficiency (207900), and arginase deficiency.</p>
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<strong>Clinical Features</strong>
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<p>Terheggen et al. (1969, 1970) described 2 sisters, aged 18 months and 5 years, with spastic paraplegia, epileptic seizures, and severe mental retardation. The parents were related. Arginine levels were high in the blood and spinal fluid of the patients, with intermediate elevations in both parents and in 2 healthy sibs. Arginase activity in red cells was very low in the patients and intermediate in the parents. In 1971 another affected girl was born into the family observed by Terheggen et al. (1972, 1975). There was late introduction of a low protein diet, but the infant developed severe mental retardation, athetosis, and spasticity. </p><p>Cederbaum et al. (1977) reported a 7.5-year-old boy with progressive psychomotor retardation, behavior disturbance, and spasticity, who had growth arrest from age 3 years. Plasma arginine was increased, and red blood cell arginase activity was less than 1% of normal, whereas it was half-normal in both parents, 2 unaffected sibs, and in his paternal grandfather. Cederbaum et al. (1977) concluded that arginase deficiency is an autosomal recessive disorder. Michels and Beaudet (1978) reported an affected Mexican child with growth retardation, microcephaly, mental retardation, spasticity, and epileptiform discharges on EEG. </p><p>In the province of Quebec, Qureshi et al. (1983) identified an affected French Canadian family. Both parents showed activity of arginase 32 to 38% of normal. Walser (1983) stated that only 8 kindreds (with 13 patients) had been reported and that 4 of these (with 7 patients) were Spanish or Spanish-American. Jorda et al. (1986) described an unusually severe case of arginase deficiency in a Spanish infant who showed marked protein intolerance early in life. The levels of red cell arginase in the parents and 1 sister were consistent with heterozygosity. Brockstedt et al. (1990) described argininemia in a 4-year-old boy born of consanguineous Pakistani parents. He had microcephaly and spastic tetraplegia. Pregnancy and birth were uneventful and psychomotor development during the first 2 years of life were presumably normal. Vilarinho et al. (1990) described argininemia in a 5-year-old Portuguese boy who did not show spastic diplegia. His first manifestation, at 3.5 years of age, was a partial seizure for 15 minutes without loss of consciousness. Six months later he showed the same clinical features over a period of 15 days. The electroencephalogram showed partial left temporal and paracentral spikes. At 4.5 years of age he began to have episodes of vomiting, hypotonia, irritability, and ataxia. </p><p>In a patient dying with severe argininemia, Grody et al. (1989) demonstrated total absence of arginase I in tissues, whereas arginase II was increased about 4-fold in kidney. The patient, an offspring of first-cousin parents of Cambodian descent, died at 6 months of age. Although Southern blot analysis failed to show a substantial deletion in the ARG1 gene, no cross-reactive arginine I protein could be demonstrated by immunoprecipitation-competition and Western blot analysis. Induction studies in cell lines that express only the type II isozyme indicated that its activity could be enhanced several fold by exposure to elevated arginine levels. This presumably was the mechanism for the high level of the enzyme in the patient and explained the fact that there is persistent ureagenesis in this disorder. </p><p>Christmann et al. (1990) described a patient in whom the diagnosis of argininemia was first made at the age of 18 years when treatment with sodium valproate was initiated for seizures. The patient had psychomotor regression since the age of 15 months with paraparesis since she was 3 years old. By the age of 18, she was bedridden. Five days after the initiation of valproate therapy, she went into a state of stupor and was found to have marked hyperammonemia. 'Valproate sensitivity' has been observed also with ornithine transcarbamylase deficiency and citrullinemia, 2 other causes of hyperammonemia. Scheuerle et al. (1993) described 2 unrelated patients, aged 9 and 5 years, who had been thought to have cerebral palsy and were later found to have arginase deficiency. The experience suggested that the condition may be underdiagnosed because of its relatively mild symptoms. The authors noted that arginase deficiency does not commonly have the severe hyperammonemia seen with other urea cycle disorders. </p><p>Cowley et al. (1998) described an 18-year-old woman, born of related parents, who had been well as a child with normal growth and development. She presented for investigation of collapse with sudden onset of spastic diplegia. She had mild, tender hepatomegaly. Over the previous 6 months, she had been ill with episodic nausea and vomiting, and had experienced some degree of lower limb weakness over the previous 2 weeks. The spastic diplegia in this patient was considered stereotypical of arginase deficiency. No arginase activity was detected in liver tissue; red cell arginase activity was low normal. </p><p>Picker et al. (2003) described a rare neonatal and fatal presentation of arginase deficiency in a 2-day-old female with markedly elevated plasma arginine, lactate, and CSF glutamine, and modestly elevated blood ammonia, who developed hypertonia and tachypnea followed by intractable seizures and global cerebral edema. The infant also had an atypical presence of the ARG2 isozyme (107830) in the liver. Picker et al. (2003) suggested that the cerebral edema and the fatal course, both of which have been reported in older patients, were due to the increased intracellular osmolarity of the elevated glutamine. </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. Arginase deficiency occurred in 22 patients (3.5%). </p><p>Diez-Fernandez et al. (2018) summarized data on 112 reported patients with argininemia, including their own. The majority of patients had later-onset disease, and the severity of the disease ranged from no clinical symptoms to severe mental retardation, seizures, and spastic paraplegia. All patients with neonatal onset presented with peak arginine concentrations (pretreatment) of greater than 971 umol/l, whereas nearly all patients with later onset (98%) presented with initial arginine values of less than 971 umol/l. All patients identified by newborn screening had mild or no clinical symptoms. Ammonia was not typically elevated, highlighting that the urea cycle is not interrupted in argininemia. </p>
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<h4>
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<strong>Clinical Management</strong>
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<p>Qureshi et al. (1984) recommended a combination of benzoate with arginine restriction in the management of hyperargininemia. Bernar et al. (1986) reported the case of a 12-year-old boy with less marked elevations of plasma arginine and less severe intellectual impairment. Both were attributed to a self-selected low-protein diet. Therapy with sodium benzoate and dietary restriction caused an impressive improvement. </p><p>Diez-Fernandez et al. (2018) summarized data on 112 reported patients with argininemia, including their own. Patients are treated with nitrogen scavengers, severe restriction of natural protein, and essential amino acids supplementation. Enzyme replacement has also been used successfully. In patients with neonatal-onset argininemia under treatment, average arginine levels ranged between 163 and 489 umol/l, and in patients with late-onset disease under treatment, average arginine levels ranged between 163 and 381 umol/l. These data demonstrate the difficulty of achieving arginine levels under 200 umol/l, as has been recommended. </p><p>In a review of clinical features and management of argininemia, Bin Sawad et al. (2022) reported that treatment with pegzilarginase enzyme replacement therapy in a phase 1/2 trial in patients with argininemia resulted in reduction of plasma arginine in all treated patients and clinically meaningful improvements in mobility measures in 79% of patients. A phase 3 trial in patients with argininemia also demonstrated that treatment with pegzilarginase led to a reduction in plasma arginine and a trend toward improved mobility. </p>
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<h4>
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<span class="mim-font">
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<strong>Inheritance</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>Haraguchi et al. (1990) and Uchino et al. (1995) demonstrated autosomal recessive inheritance of argininemia. </p>
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<strong>Molecular Genetics</strong>
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<p>In a study of 20 persons homozygous or heterozygous for arginase deficiency, Grody et al. (1992) found no substantial structural ARG1 gene deletions or other rearrangements by Southern blot analysis. </p><p>In a Japanese girl with argininemia, Haraguchi et al. (1990) found compound heterozygosity for 2 frameshift deletions in the ARG1 gene (608313.0001-608313.0002). </p><p>In 11 patients with argininemia, 9 separate mutations representing 21 of the 22 mutant alleles were identified by Uchino et al. (1995) (see, e.g., 608313.0008-608313.0011). Four of these mutations, accounting for 64% of the mutant alleles, were expressed in vitro and were found to be severe or moderate. Patients with at least one 'moderate' mutant allele responded well to dietary treatment, whereas patients with 2 'severe' alleles did not respond to dietary treatment. </p><p>Diez-Fernandez et al. (2018) summarized data on all published and 12 novel ARG1 mutations, totaling 66 mutations from 112 patients. Missense mutations were the most common (30), followed by deletions (15), splicing (10), nonsense (7), duplications (2), insertions (1), and a translation initiation codon mutation. Most of the mutations (48) were found in single families, with 15 in up to 4 families and only 3 mutations (T134I; G235R, 608313.0006; and R21X, 608313.0012) found in 5, 14, and 16 families, respectively. The 30 missense mutations were distributed unevenly throughout the 8 exons, clustering in exons 1, 4, and 7. No clear genotype-phenotype correlation was observed. Even patients carrying homozygous 'devastating' mutations (e.g., nonsense and splicing) could develop later onset of the disease. Most ARG1 mutations led to late-onset disease; 6 mutations were associated with neonatal-onset disease (I8K, G106R, c.466-2A-G, c.77delA, c.262_265delAAGA (608313.0001), and c.647_648ins32). </p>
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<p>Shih et al. (1972) found high blood arginine levels and low red cell arginase in Macaca fascicularis monkeys in the New England Regional Primate Center, indicating arginase deficiency. </p><p>Iyer et al. (2002) produced Arg1-knockout mice that duplicated several pathobiologic aspects of human argininemia. </p><p>Deignan et al. (2008) stated that several guanidino compounds, which are direct or indirect metabolites of arginine, are elevated in the blood of uremic patients and in the plasma and cerebrospinal fluid of hyperargininemic patients. They found that the guanidino compounds alpha-keto-delta-guanidinovaleric acid, alpha-N-acetylarginine, and argininic acid were increased in brain tissue from the Arg1-deficient mouse model of hyperargininemia. Several guanidino compounds were also elevated in plasma, liver, and kidney. Deignan et al. (2008) concluded that guanidino compounds may be the neuropathogenic agents responsible for complications in arginase deficiency. </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 argininemia is estimated to be 1 in 1,100,000 (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>History</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 observation that researchers working with the Shope virus have low blood arginine led to the use of Shope virus in the treatment of this disorder. Rogers et al. (1973) reported an induction of arginase activity by inoculation of the Shope virus into tissue cultures of an argininemic patient's fibroblasts. </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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Snyderman et al. (1977); Snyderman et al. (1979); Spector et al.
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(1980); Spector et al. (1983); Uchino et al. (1992); Van Elsen and
|
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Leroy (1977)
|
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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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<strong>Increased plasma and tissue guanidino compounds in a mouse model of hyperargininemia.</strong>
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Diez-Fernandez, C., Rufenacht, V., Gemperle, C., Fingerhut, R., Haberle, J.
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Grody, W. W., Argyle, C., Kern, R. M., Dizikes, G. J., Spector, E. B., Strickland, A. D., Klein, D., Cederbaum, S. D.
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Grody, W. W., Klein, D., Dodson, A. E., Kern, R. M., Wissmann, P. B., Goodman, B. K., Bassand, P., Marescau, B., Kang, S. S., Leonard, J. V.
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Haraguchi, Y., Aparicio, J. M., Takiguchi, M., Akaboshi, I., Yoshino, M., Mori, M., Matsuda, I.
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<strong>Molecular basis of argininemia: identification of two discrete frame-shift deletions in the liver-type arginase gene.</strong>
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J. Clin. Invest. 86: 347-350, 1990.
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Iyer, R. K., Yoo, P. K., Kern, R. M., Rozengurt, N., Tsoa, R., O'Brien, W. E., Yu, H., Grody, W. W., Cederbaum, S. D.
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<strong>Mouse model for human arginase deficiency.</strong>
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<strong>A new case of arginase deficiency in a Spanish male.</strong>
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J. Inherit. Metab. Dis. 9: 393-397, 1986.
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Picker, J. D., Puga, A. C., Levy, H. L., Marsden, D., Shih, V. E., DeGirolami, U., Ligon, K. L., Cederbaum, S. D., Kern, R. M., Cox, G. F.
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<strong>Treatment of hyperargininemia with sodium benzoate and arginine-restricted diet.</strong>
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Qureshi, I. A., Letarte, J., Ouellet, R., Larochelle, J., Lemieux, B.
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<strong>A new French-Canadian family affected by hyperargininaemia.</strong>
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<p class="mim-text-font">
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Rogers, S., Lowenthal, A., Terheggen, H. G., Columbo, J. P.
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<strong>Induction of arginase activity with the Shope papilloma virus in tissue culture cells from an argininemic patient.</strong>
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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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Scheuerle, A. E., McVie, R., Beaudet, A. L., Shapira, S. K.
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<strong>Arginase deficiency presenting as cerebral palsy.</strong>
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<li>
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<p class="mim-text-font">
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Shih, V. E., Jones, C. T., Levy, H. L., Madigan, P. M.
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<strong>Arginase deficiency in Macaca fascicularis. I. Arginase activity and arginine concentration in erythrocytes and liver.</strong>
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[PubMed: 4625814]
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[Full Text: https://doi.org/10.1203/00006450-197206000-00003]
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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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|
Snyderman, S. E., Sansaricq, C., Chen, W. S., Norton, P. M., Phansalkar, S. V.
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<strong>Argininemia.</strong>
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J. Pediat. 90: 563-568, 1977.
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[PubMed: 839367]
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[Full Text: https://doi.org/10.1016/s0022-3476(77)80367-3]
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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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Snyderman, S. E., Sansaricq, C., Norton, P. M., Goldstein, F.
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<strong>Argininemia treated from birth.</strong>
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J. Pediat. 95: 61-63, 1979.
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[PubMed: 480013]
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[Full Text: https://doi.org/10.1016/s0022-3476(79)80082-7]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Spector, E. B., Kiernan, M. B., Cederbaum, S. D.
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<strong>Properties of fetal and adult red blood cell arginase: a possible diagnostic test for arginase deficiency.</strong>
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Am. J. Hum. Genet. 32: 79-87, 1980.
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[PubMed: 7361766]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Spector, E. B., Rice, S. C. H., Cederbaum, S. D.
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|
<strong>Immunologic studies of arginase in tissues of normal human adult and arginase-deficient patients.</strong>
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Pediat. Res. 17: 941-944, 1983.
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[PubMed: 6419196]
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[Full Text: https://doi.org/10.1203/00006450-198312000-00003]
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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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|
Terheggen, H. G., Lavinha, F., Colombo, J. P., Van Sande, M., Lowenthal, A.
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|
<strong>Familial hyperargininemia.</strong>
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|
J. Genet. Hum. 20: 69-84, 1972.
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[PubMed: 4643877]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Terheggen, H. G., Lowenthal, A., Lavinha, F., Colombo, J. P.
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|
<strong>Familial hyperargininaemia.</strong>
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Arch. Dis. Child. 50: 57-62, 1975.
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</p>
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<li>
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<p class="mim-text-font">
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Terheggen, H. G., Schwenk, A., Lowenthal, A., Van Sande, M., Colombo, J. P.
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<strong>Argininaemia with arginase deficiency. (Letter)</strong>
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Lancet 294: 748-749, 1969. Note: Originally Volume II.
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Terheggen, H. G., Schwenk, A., Lowenthal, A., Van Sande, M., Colombo, J. P.
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<strong>Hyperargininaemie mit Arginasedefekt. Eine Neue familiaere Stoffwechselstoerung. I. Klinische Befunde.</strong>
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Z. Kinderheilk. 107: 298-312, 1970.
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[PubMed: 5438971]
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<p class="mim-text-font">
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Testai, F. D., Gorelick, P. B.
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<strong>Inherited metabolic disorders and stroke part 2: homocystinuria, organic acidurias, and urea cycle disorders.</strong>
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</p>
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<li>
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<p class="mim-text-font">
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Uchino, T., Haraguchi, Y., Aparicio, J. M., Mizutani, N., Higashikawa, M., Naitoh, H., Mori, M., Matsuda, I.
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<strong>Three novel mutations in the liver-type arginase gene in three unrelated Japanese patients with argininemia.</strong>
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Uchino, T., Snyderman, S. E., Lambert, M., Qureshi, I. A., Shapira, S. K., Sansaricq, C., Smit, L. M. E., Jakobs, C., Matsuda, I.
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<strong>Molecular basis of phenotypic variation in patients with argininemia.</strong>
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Hum. Genet. 96: 255-260, 1995.
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Van Elsen, A. F., Leroy, J. G.
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<strong>Human hyperargininemia: a mutation not expressed in skin fibroblasts?</strong>
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Am. J. Hum. Genet. 29: 350-355, 1977.
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Vilarinho, L., Senra, V., Vilarinho, A., Barbosa, C., Parvy, P., Rabier, D., Kamoun, P.
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<strong>A new case of argininaemia without spastic diplegia in a Portuguese male.</strong>
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J. Inherit. Metab. Dis. 13: 751-752, 1990.
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Walser, M.
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<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. (5th ed.)</strong>
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New York: McGraw-Hill (pub.) 1983. Pp. 402-438.
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