4041 lines
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Entry
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- #606054 - PROPIONIC ACIDEMIA
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- OMIM
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<p>
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<span class="h4">#606054</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/606054"><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="#biochemicalFeatures">Biochemical Features</a>
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<a href="#populationGenetics">Population Genetics</a>
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<a href="#diagnosis">Diagnosis</a>
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<a href="#clinicalManagement">Clinical Management</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div><a href="https://clinicaltrials.gov/search?cond=PROPIONIC ACIDEMIA" 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=3557&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK92946/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/5994" 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/propionic-acidemia" 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=606054[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/Elevated%20C3%20Acylcarnitine%20PA%20and%20MA.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/C3-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=35" 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/b026cb8a-d3fe-4e06-b754-93db9491059b/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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</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:14701" 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/606054" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:14701" 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:606054" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
|
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 124718009, 69080001<br />
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<strong>ICD10CM:</strong> E71.121<br />
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<strong>ORPHA:</strong> 35<br />
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<strong>DO:</strong> 14701<br />
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">ICD+</a>
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</div>
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<div>
|
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<span class="h3">
|
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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606054
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</span>
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</span>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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PROPIONIC ACIDEMIA
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</span>
|
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</h3>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<a id="alternativeTitles" class="mim-anchor"></a>
|
|
<div>
|
|
<p>
|
|
<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
PROPIONYL-CoA CARBOXYLASE DEFICIENCY<br />
|
|
PCC DEFICIENCY<br />
|
|
GLYCINEMIA, KETOTIC<br />
|
|
HYPERGLYCINEMIA WITH KETOACIDOSIS AND LEUKOPENIA<br />
|
|
KETOTIC HYPERGLYCINEMIA
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="phenotypeMap" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/3/706?start=-3&limit=10&highlight=706">
|
|
3q22.3
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Propionicacidemia
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606054"> 606054 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
PCCB
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/232050"> 232050 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/13/286?start=-3&limit=10&highlight=286">
|
|
13q32.3
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Propionicacidemia
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606054"> 606054 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
PCCA
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/232000"> 232000 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/606054" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/606054" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/606054" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
|
|
|
|
|
|
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GROWTH </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Height </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Short stature <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/422065006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">422065006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237836003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237836003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237837007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237837007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E34.31" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E34.31</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R62.52" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R62.52</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/783.43" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">783.43</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0349588&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0349588</a>, <a href="https://bioportal.bioontology.org/search?q=C0013336&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013336</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003510</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0004322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004322</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004322</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Other </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Failure to thrive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/432788009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">432788009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/54840006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">54840006</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/783.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">783.41</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0015544&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0015544</a>, <a href="https://bioportal.bioontology.org/search?q=C2315100&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2315100</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001508</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001508</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> CARDIOVASCULAR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Heart </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Cardiomyopathy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/85898001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">85898001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/57809008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">57809008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I51.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I51.5</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/I42" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I42</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/I42.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I42.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/425" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">425</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0878544&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0878544</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001638" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001638</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001638" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001638</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> RESPIRATORY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Tachypnea <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/271823003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">271823003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R06.82" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R06.82</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/786.06" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">786.06</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0231835&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0231835</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002789" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002789</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002789" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002789</a>]</span><br /> -
|
|
Apnea <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/248583008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">248583008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1023001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1023001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R06.81" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R06.81</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/786.03" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">786.03</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0003578&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003578</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002104" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002104</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002104" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002104</a>]</span><br />
|
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</span>
|
|
</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">
|
|
<strong> ABDOMEN </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
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<div>
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<div>
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<span class="h5 mim-font">
|
|
<em> Liver </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hepatomegaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/80515008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">80515008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R16.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R16.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/789.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">789.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0019209&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0019209</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002240" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002240</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002240" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002240</a>]</span><br />
|
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</span>
|
|
</div>
|
|
</div>
|
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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<em> Pancreas </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Pancreatitis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/75694006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">75694006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K85.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K85.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0030305&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0030305</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001733" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001733</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001733" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001733</a>]</span><br />
|
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|
|
</span>
|
|
</div>
|
|
</div>
|
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Gastrointestinal </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Decreased appetite <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/64379006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">64379006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0232462&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0232462</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>]</span> <span class="mim-feature-ids hidden">[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>]</span><br /> -
|
|
Feeding difficulties <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/78164000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">78164000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R63.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R63.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0232466&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0232466</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011968" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011968</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011968" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011968</a>]</span><br /> -
|
|
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 /> -
|
|
Dehydration <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/34095006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">34095006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E86.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E86.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/276.51" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">276.51</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0011175&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011175</a>, <a href="https://bioportal.bioontology.org/search?q=C2062903&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2062903</a>, <a href="https://bioportal.bioontology.org/search?q=C4284399&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4284399</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001944" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001944</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001944" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001944</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKELETAL </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Osteoporosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/64859006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">64859006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Z82.62" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Z82.62</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M81.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M81.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/733.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">733.0</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/V17.81" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">V17.81</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/733.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">733.00</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2911643&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2911643</a>, <a href="https://bioportal.bioontology.org/search?q=C0029456&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0029456</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000939" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000939</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000939" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000939</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKIN, NAILS, & HAIR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Skin </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Dermatitis acidemica <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1853749&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1853749</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
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|
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|
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</div>
|
|
|
|
</div>
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|
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|
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|
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> 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">
|
|
|
|
- Acute encephalopathy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1306587&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1306587</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006846" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006846</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006846" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006846</a>]</span><br /> -
|
|
Lethargy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/214264003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">214264003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R53.83" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R53.83</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0023380&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0023380</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001254" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001254</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001254" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001254</a>]</span><br /> -
|
|
Axial hypotonia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1853743&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1853743</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008936" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008936</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008936" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008936</a>]</span><br /> -
|
|
Limb hypertonia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1838391&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1838391</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002509" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002509</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002509" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002509</a>]</span><br /> -
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Coma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/371632003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">371632003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/405809000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">405809000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R40.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R40.20</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R40.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R40.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/780.01" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">780.01</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0543874&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0543874</a>, <a href="https://bioportal.bioontology.org/search?q=C3146279&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3146279</a>, <a href="https://bioportal.bioontology.org/search?q=C0009421&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0009421</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001259" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001259</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001259" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001259</a>]</span><br /> -
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|
Seizure <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/91175000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">91175000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0036572&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0036572</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001250</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001250</a>]</span><br /> -
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Psychomotor retardation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398991009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398991009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1144814003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1144814003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0424230&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0424230</a>, <a href="https://bioportal.bioontology.org/search?q=C5441816&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5441816</a>]</span><br /> -
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Cerebral atrophy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/278849000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">278849000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0235946&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0235946</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002059" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002059</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002059" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002059</a>]</span><br /> -
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Dystonia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/15802004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">15802004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G24.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G24.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/G24" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G24</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0013421&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013421</a>, <a href="https://bioportal.bioontology.org/search?q=C0393593&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0393593</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001332" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001332</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001332" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001332</a>]</span><br /> -
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Cerebellar hemorrhage (rare) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/75038005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">75038005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0149854&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0149854</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011695" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011695</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011695" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011695</a>]</span><br /> -
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Ischemic stroke in the basal ganglia (rare) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3151505&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3151505</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> METABOLIC FEATURES </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Metabolic acidosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/59455009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">59455009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E87.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E87.20</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0220981&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0220981</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001942" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001942</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001942" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001942</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
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<strong> HEMATOLOGY </strong>
|
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Pancytopenia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/127034005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">127034005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D61.81" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D61.81</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/284.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">284.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0030312&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0030312</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001876" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001876</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001876" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001876</a>]</span><br /> -
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Neutropenia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/303011007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">303011007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/165517008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">165517008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/84828003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">84828003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D70" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D70</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/D72.819" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D72.819</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/D70.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D70.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/288.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">288.00</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/288.50" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">288.50</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/288.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">288.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0853697&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0853697</a>, <a href="https://bioportal.bioontology.org/search?q=C0027947&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0027947</a>, <a href="https://bioportal.bioontology.org/search?q=C0023530&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0023530</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001875" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001875</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001882" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001882</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001875" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001875</a>]</span><br /> -
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Anemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/271737000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">271737000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D64.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D64.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/285.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">285.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0002871&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0002871</a>, <a href="https://bioportal.bioontology.org/search?q=C1000483&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1000483</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001903" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001903</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001903" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001903</a>]</span><br /> -
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|
Thrombocytopenia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/415116008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">415116008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/302215000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">302215000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D69.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D69.6</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/287.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">287.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0392386&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0392386</a>, <a href="https://bioportal.bioontology.org/search?q=C0040034&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0040034</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001873" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001873</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001873" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001873</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
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<strong> LABORATORY ABNORMALITIES </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- 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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Lactic acidosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/91273001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">91273001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E87.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E87.20</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0001125&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0001125</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003128" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003128</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003128" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003128</a>]</span><br /> -
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Elevated propionate <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1853744&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1853744</a>]</span><br /> -
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Elevated 3-hydroxypropionic acid <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1853745&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1853745</a>]</span><br /> -
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Elevated 3-methylcitric acid <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1853746&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1853746</a>]</span><br /> -
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Hyperglycinemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/64654004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">64654004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0268559&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0268559</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002154" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002154</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002154" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002154</a>]</span><br /> -
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Hyperglycinuria <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0543541&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0543541</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003108" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003108</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003108" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003108</a>]</span><br /> -
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Serum carnitine deficiency <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1853748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1853748</a>]</span><br /> -
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Propionyl-CoA carboxylase deficiency <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/399149003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">399149003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/124718009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">124718009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/69080001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">69080001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E71.121" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E71.121</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4551877&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551877</a>, <a href="https://bioportal.bioontology.org/search?q=C0311298&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0311298</a>, <a href="https://bioportal.bioontology.org/search?q=C0268579&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0268579</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003571" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003571</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0003353" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003353</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003353" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003353</a>]</span><br /> -
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Hypoglycemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237630007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237630007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/271327008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">271327008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/302866003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">302866003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1179458001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1179458001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E16.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E16.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/251.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">251.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020615&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020615</a>, <a href="https://bioportal.bioontology.org/search?q=C5767385&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5767385</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001943" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001943</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001943" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001943</a>]</span><br />
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<strong> MISCELLANEOUS </strong>
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Two complementation groups - pccA (secondary to defects in the alpha chain of PCC, <a href="/entry/232000">232000</a>) and pccBC (secondary to defects in the beta subunit of PCC, <a href="/entry/232050">232050</a>)<br /> -
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Course characterized by repeated relapses precipitated by excessive protein intake, intercurrent infection, or constipation<br />
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<strong> MOLECULAR BASIS </strong>
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- Caused by mutation in the propionyl Coenzyme A carboxylase, alpha polypeptide gene (PCCA, <a href="/entry/232000#0001">232000.0001</a>)<br /> -
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Caused by mutation in the propionyl Coenzyme A carboxylase, beta polypeptide gene (PCCB, <a href="/entry/232050#0001">232050.0001</a>)<br />
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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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<p>A number sign (#) is used with this entry because propionic acidemia is caused by mutation in the genes encoding propionyl-CoA carboxylase, PCCA (<a href="/entry/232000">232000</a>) or PCCB (<a href="/entry/232050">232050</a>). Cells from patients with mutations in the PCCA gene fall into complementation group pccA. Cells from patients with mutations in the PCCB gene fall into complementation group pccBC. Mutations in the pccB subgroup occur in the N terminus of the PCCB gene, which includes the biotin-binding site, whereas mutations in the pccC subgroup occur in the C terminus of the PCCB gene (<a href="#8" class="mim-tip-reference" title="Fenton, W. A., Gravel, R. A., Rosenblatt, D. S. <strong>Disorders of propionate and methylmalonate metabolism. In: Scriver, C. R.; Beaudet, A. L.; Sly, W. S.; Valle, D. (eds.): The Metabolic and Molecular Bases of Inherited Disease. Vol. II. (8th ed.)</strong> New York: McGraw-Hill (pub.) 2001. P. 2176."None>Fenton et al., 2001</a>).</p>
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<p>Propionic acidemia is an autosomal recessive metabolic disorder caused by defective functioning in the mitochondrial enzyme propionyl CoA carboxylase (PCC), resulting in the accumulation of propionic acid metabolites, and dysfunction in the respiratory chain and urea cycle pathways. The disorder is clinically heterogeneous. A neonatal-onset form is characterized by poor feeding, vomiting, and fatigue in the first days of life in a previously healthy infant, and if untreated, may be followed by lethargy, seizures, coma, and death. The neonatal form is frequently accompanied by metabolic acidosis with anion gap, ketonuria, hypoglycemia, hyperammonemia, and cytopenia. A late-onset form in older children and adults has a milder phenotype, is less common, and may present with developmental regression, chronic vomiting, protein intolerance, failure to thrive, hypotonia, and occasionally basal ganglia infarction, which may result in dystonia and choreoathetosis, and cardiomyopathy. Metabolically unstable individuals can have an acute decompensation that resembles the neonatal presentation, often precipitated by a catabolic stress such as infection, injury, or surgery, or an excessive intake of intact (i.e., complete, dietary, or natural) protein. Long-term manifestations of neonatal and late onset of propionic acidemia can include growth impairment, intellectual disability, seizures, basal ganglia lesions, pancreatitis, and cardiomyopathy. Other less common manifestations include optic atrophy, hearing loss, premature ovarian insufficiency, and chronic renal failure (summary by <a href="#15" class="mim-tip-reference" title="Jurecki, E., Ueda, K., Frazier, D., Rohr, F., Thompson, A., Hussa, C., Obernolte, L., Reineking, B., Roberts, A. M., Yannicelli, S., Osara, Y., Stembridge, A., Splett, P., Singh, R. H. <strong>Nutrition management guideline for propionic acidemia: an evidence and consensus-based approach.</strong> Molec. Genet. Metab. 126: 341-354, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30879957/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30879957</a>] [<a href="https://doi.org/10.1016/j.ymgme.2019.02.007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30879957">Jurecki et al., 2019</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30879957" 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 features of propionic acidemia are episodic vomiting, lethargy and ketosis, neutropenia, periodic thrombocytopenia, hypogammaglobulinemia, developmental retardation, and intolerance to protein. Outstanding chemical features are hyperglycinemia and hyperglycinuria. This disorder is not to be confused with hereditary glycinuria (<a href="/entry/138500">138500</a>), which is an autosomal dominant disorder.</p><p><a href="#25" class="mim-tip-reference" title="Soriano, J. R., Taitz, L. S., Finberg, L., Edelmann, C. M., Jr. <strong>Hyperglycinemia with ketoacidosis and leukopenia.</strong> Pediatrics 39: 818-828, 1967.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6026548/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6026548</a>]" pmid="6026548">Soriano et al. (1967)</a> suggested that in the disorder first described by <a href="#6" class="mim-tip-reference" title="Childs, B., Nyhan, W. L., Borden, M., Bard, L., Cooke, R. E. <strong>Idiopathic hyperglycinemia and hyperglycinuria: a new disorder of amino acid metabolism.</strong> Pediatrics 27: 522-538, 1961.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13693094/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13693094</a>]" pmid="13693094">Childs et al. (1961)</a>, a generalized defect in utilization of amino acids results in excessive deamination of certain amino acids in muscle, with consequent hyperammonemia and ketoacidosis. In a second group of patients whose disorder is also termed hyperglycinemia, ketoacidosis, neutropenia, and thrombocytopenia have not been observed and glycine is the only amino acid present in excess in serum and urine; see glycine encephalopathy (<a href="/entry/605899">605899</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=13693094+6026548" 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="Hsia, Y. E., Scully, K. J., Rosenberg, L. E. <strong>Defective propionate carboxylation in ketotic hyperglycinaemia.</strong> Lancet 293: 757-758, 1969. Note: Originally Volume I.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4180220/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4180220</a>] [<a href="https://doi.org/10.1016/s0140-6736(69)91757-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4180220">Hsia et al. (1969)</a> studied fibroblasts from a sister of the boy described by <a href="#6" class="mim-tip-reference" title="Childs, B., Nyhan, W. L., Borden, M., Bard, L., Cooke, R. E. <strong>Idiopathic hyperglycinemia and hyperglycinuria: a new disorder of amino acid metabolism.</strong> Pediatrics 27: 522-538, 1961.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13693094/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13693094</a>]" pmid="13693094">Childs et al. (1961)</a> and demonstrated deficient propionate carboxylation as the basic defect in ketotic hyperglycinemia. <a href="#14" class="mim-tip-reference" title="Hsia, Y. E., Scully, K. J., Rosenberg, L. E. <strong>Inherited propionyl-CoA carboxylase deficiency in 'ketotic hyperglycinemia'.</strong> J. Clin. Invest. 50: 127-130, 1971.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5101292/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5101292</a>] [<a href="https://doi.org/10.1172/JCI106466" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5101292">Hsia et al. (1971)</a> also showed that 'ketotic hyperglycinemia' is the same as propionic acidemia and is the result of a defect in PCC. In further studies on this patient, <a href="#4" class="mim-tip-reference" title="Brandt, I. K., Hsia, E., Clement, D. H., Provence, S. A. <strong>Propionicacidemia (ketotic hyperglycinemia): dietary treatment resulting in normal growth and development.</strong> Pediatrics 53: 391-395, 1974.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4815259/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4815259</a>]" pmid="4815259">Brandt et al. (1974)</a> demonstrated that with low protein diet, growth and intelligence developed normally to age 9 years; indeed, intelligence was superior. The family originally reported by <a href="#6" class="mim-tip-reference" title="Childs, B., Nyhan, W. L., Borden, M., Bard, L., Cooke, R. E. <strong>Idiopathic hyperglycinemia and hyperglycinuria: a new disorder of amino acid metabolism.</strong> Pediatrics 27: 522-538, 1961.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13693094/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13693094</a>]" pmid="13693094">Childs et al. (1961)</a> had the pccA type of propionic acidemia (<a href="#35" class="mim-tip-reference" title="Wolf, B. <strong>Personal Communication.</strong> Richmond, Va. 1/2/1986."None>Wolf, 1986</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=13693094+4180220+4815259+5101292" 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 male Pakistani offspring of first-cousin parents, <a href="#9" class="mim-tip-reference" title="Gompertz, D., Bau, D. C. K., Storrs, C. N., Peters, T. J., Hughes, E. A. <strong>Localisation of enzymic defect in propionicacidaemia.</strong> Lancet 295: 1140-1143, 1970. Note: Originally Volume I.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4192098/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4192098</a>] [<a href="https://doi.org/10.1016/s0140-6736(70)91216-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4192098">Gompertz et al. (1970)</a> described acidosis and ketosis due to propionic acidemia, leading to death at 8 days of age. A sib had died at 2 weeks of age with metabolic acidosis and ketonuria. The defect was found to involve mitochondrial propionyl-CoA carboxylase. The same condition was described by <a href="#12" class="mim-tip-reference" title="Hommes, F. A., Kuipers, J. R. G., Elema, J. D., Jansen, J. F., Jonxis, J. H. P. <strong>Propionicacidemia, a new inborn error of metabolism.</strong> Pediat. Res. 2: 519-524, 1968.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5727920/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5727920</a>] [<a href="https://doi.org/10.1203/00006450-196811000-00010" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5727920">Hommes et al. (1968)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5727920+4192098" 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="Al Essa, M., Rahbeeni, Z., Jumaah, S., Joshi, S., Al Jishi, E., Rashed, M. S., Al Amoudi, M., Ozand, P. T. <strong>Infectious complications of propionic acidemia in Saudia (sic) Arabia.</strong> Clin. Genet. 54: 90-94, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9727749/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9727749</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1998.tb03702.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9727749">Al Essa et al. (1998)</a> pointed out that not only do acute intercurrent infections precipitate acidosis in propionic acidemia, but such infections are unusually frequent in propionic acidemia in Saudi Arabia. Propionic acidemia is unusually frequent in Saudi Arabia, with a frequency of 1 in 2,000 to 1 in 5,000, depending on the region. The disorder has a severe phenotype in Saudi Arabia. <a href="#1" class="mim-tip-reference" title="Al Essa, M., Rahbeeni, Z., Jumaah, S., Joshi, S., Al Jishi, E., Rashed, M. S., Al Amoudi, M., Ozand, P. T. <strong>Infectious complications of propionic acidemia in Saudia (sic) Arabia.</strong> Clin. Genet. 54: 90-94, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9727749/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9727749</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1998.tb03702.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9727749">Al Essa et al. (1998)</a> had information on approximately 90 patients; certain tribes accounted for almost 80% of these cases, suggesting a founder effect. The number of other cases of organic acidemias observed during the same period was 656. Longitudinal data, in some instances up to 8 years, were available for 38 patients with propionic acidemia. A high frequency of infections was observed in 80% of the patients. Most microorganisms implicated were unusual, suggesting an underlying immune deficiency. The infections occurred despite aggressive treatment with appropriate diets, carnitine, and, during acute episodes of the disease, with metronidazole, which suggested a global effect of the disease on T and B lymphocytes as well as on the bone marrow cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9727749" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a review of inherited metabolic disorders and stroke, <a href="#27" class="mim-tip-reference" title="Testai, F. D., Gorelick, P. B. <strong>Inherited metabolic disorders and stroke part 2: homocystinuria, organic acidurias, and urea cycle disorders.</strong> Arch. Neurol. 67: 148-153, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20142522/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20142522</a>] [<a href="https://doi.org/10.1001/archneurol.2009.333" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20142522">Testai and Gorelick (2010)</a> noted that patients with branched-chain organic aciduria, including isovaleric aciduria (<a href="/entry/243500">243500</a>), propionic aciduria, and methylmalonic aciduria (<a href="/entry/251000">251000</a>), can rarely have strokes. Cerebellar hemorrhage has been described in all 3 disorders, and basal ganglia ischemic stroke has been described in propionic aciduria and methylmalonic aciduria. These events may occur in the absence of metabolic decompensation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20142522" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#30" class="mim-tip-reference" title="Wenger, O., Brown, M., Smith, B., Chowdhury, D., Crosby, A. H., Baple, E. L., Yoder, M., Laxen, W., Tortorelli, S., Strauss, K. A. <strong>Biochemical phenotype and its relationship to treatment in 16 individuals with PCCB c.1606A-G (p.Asn536Asp) variant propionic acidemia.</strong> Molec. Genet. Metab. 131: 316-324, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33127324/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33127324</a>] [<a href="https://doi.org/10.1016/j.ymgme.2020.09.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33127324">Wenger et al. (2020)</a> compared clinical and laboratory parameters between 16 individuals with propionic acidemia who were homozygous for an N536D mutation in the PCCB gene and 16 unaffected sibs. Affected individuals had a marginally but significantly elevated QTc compared to controls. Median ejection fraction and shortening fraction were significantly lower in patients. There was no difference in serum concentrations of creatine kinase-MB isoenzyme (see <a href="/entry/123310">123310</a>), B-type natriuretic peptide (see <a href="/entry/600295">600295</a>), or troponin I (see <a href="/entry/191044">191044</a>) between patients and controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33127324" 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="#17" class="mim-tip-reference" title="Kovacevic, A., Garbade, S. F., Horster, F., Hoffmann, G. F., Gorenflo, M., Mereles, D., Kolker, S., Staufner, C. <strong>Detection of early cardiac disease manifestation in propionic acidemia--results of a monocentric cross-sectional study.</strong> Molec. Genet. Metab. 137: 349-358, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/36395710/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">36395710</a>] [<a href="https://doi.org/10.1016/j.ymgme.2022.10.007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="36395710">Kovacevic et al. (2022)</a> evaluated echocardiogram parameters in a cross-sectional cohort of 18 patients with propionic acidemia, with an average age of 13.1 years. Left ventricular global longitudinal strain (LV-GLS) was abnormal in 72% of patients, whereas LV-fractional shortening and ejection fraction were only found to be reduced in 33.3% and 61% of patients, respectively. LV-myocardial performance index was found to be a reliable indicator of LV dysfunction in the setting of a dilated LV. <a href="#17" class="mim-tip-reference" title="Kovacevic, A., Garbade, S. F., Horster, F., Hoffmann, G. F., Gorenflo, M., Mereles, D., Kolker, S., Staufner, C. <strong>Detection of early cardiac disease manifestation in propionic acidemia--results of a monocentric cross-sectional study.</strong> Molec. Genet. Metab. 137: 349-358, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/36395710/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">36395710</a>] [<a href="https://doi.org/10.1016/j.ymgme.2022.10.007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="36395710">Kovacevic et al. (2022)</a> also observed a significant positive association between the median QTc interval and left ventricular diameter. The likelihood of having abnormal left ventricular functional measures increased with age. <a href="#17" class="mim-tip-reference" title="Kovacevic, A., Garbade, S. F., Horster, F., Hoffmann, G. F., Gorenflo, M., Mereles, D., Kolker, S., Staufner, C. <strong>Detection of early cardiac disease manifestation in propionic acidemia--results of a monocentric cross-sectional study.</strong> Molec. Genet. Metab. 137: 349-358, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/36395710/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">36395710</a>] [<a href="https://doi.org/10.1016/j.ymgme.2022.10.007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="36395710">Kovacevic et al. (2022)</a> concluded that measures such as LV-GLS may detect earlier or more subtle manifestations of LV dysfunction in propionic acidemia and have an impact on medical management. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=36395710" 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="#11" class="mim-tip-reference" title="Hillman, R. E., Keating, J. P., Williams, J. C. <strong>Biotin-responsive propionic acidemia presenting as the rumination syndrome.</strong> J. Pediat. 92: 439-441, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/632987/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">632987</a>] [<a href="https://doi.org/10.1016/s0022-3476(78)80441-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="632987">Hillman et al. (1978)</a> observed biotin-responsive propionic acidemia. <a href="#32" class="mim-tip-reference" title="Wolf, B., Hsia, Y. E. <strong>Biotin responsiveness in propionicacidaemia. (Letter)</strong> Lancet 312: 901 only, 1978. Note: Originally Volume II.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/81453/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">81453</a>] [<a href="https://doi.org/10.1016/s0140-6736(78)91617-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="81453">Wolf and Hsia (1978)</a> suggested that biotin-responsiveness can be tested by measuring propionyl-CoA carboxylase and beta-methylcrotonyl CoA carboxylase (see <a href="/entry/609010">609010</a> and <a href="/entry/609014">609014</a>) in peripheral blood leukocytes before and after biotin. From kinetic analysis of complementations in heterokaryons of propionyl CoA carboxylase-deficient fibroblasts, <a href="#34" class="mim-tip-reference" title="Wolf, B., Willard, H. F., Rosenberg, L. E. <strong>Kinetic analysis genetic complementation in heterokaryons of propionyl CoA carboxylase-deficient human fibroblasts.</strong> Am. J. Hum. Genet. 32: 16-25, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7361761/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7361761</a>]" pmid="7361761">Wolf et al. (1980)</a> concluded that the 'bio' and 'pcc' mutations affect different genes; that complementation between pccA and pccB, pccC or pccBC lines is intergenic with subunit exchange and synthesis of new carboxylase molecules and that complementation between pccB and pccC mutants is interallelic. <a href="#31" class="mim-tip-reference" title="Wolf, B., Feldman, G. L. <strong>The biotin-dependent carboxylase deficiencies.</strong> Am. J. Hum. Genet. 34: 699-716, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6127031/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6127031</a>]" pmid="6127031">Wolf and Feldman (1982)</a> considered it likely that the pccBC complementation group reflects mutations of the alpha subunit and the pccA group mutations of the beta subunit. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6127031+632987+7361761+81453" 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>Using cDNA clones coding for the alpha and beta chains as probes, <a href="#18" class="mim-tip-reference" title="Lamhonwah, A.-M., Gravel, R. A. <strong>Propionicacidemia: absence of alpha-chain mRNA in fibroblasts from patients of the pccA complementation group.</strong> Am. J. Hum. Genet. 41: 1124-1131, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3687944/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3687944</a>]" pmid="3687944">Lamhonwah and Gravel (1987)</a> found absence of alpha mRNA in 4 of 6 pccA strains and the presence of beta mRNA in all pccA mutants studied. They also found the presence of both alpha and beta mRNAs in 3 pccBC, 2 pccB, and 3 pccC mutants. <a href="#22" class="mim-tip-reference" title="Ohura, T., Kraus, J. P., Rosenberg, L. E. <strong>Unequal synthesis and differential degradation of propionyl CoA carboxylase subunits in cells from normal and propionic acidemia patients.</strong> Am. J. Hum. Genet. 45: 33-40, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2741949/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2741949</a>]" pmid="2741949">Ohura et al. (1989)</a> presented evidence from which they concluded that beta-chain subunits of propionyl-CoA carboxylase are normally synthesized and imported into the mitochondria in excess of alpha-chain subunits, but only that portion assembled with alpha subunits escapes degradation. In pccA patients, the primary defect in alpha-chain synthesis leads secondarily to degradation of normally synthesized beta chains. The differential rates of synthesis of alpha and beta chains appear to account for the finding that persons heterozygous for pccBC mutations have normal carboxylase activity in their cells. Among 15 Japanese patients with propionic acidemia, <a href="#23" class="mim-tip-reference" title="Ohura, T., Miyabayashi, S., Narisawa, K., Tada, K. <strong>Genetic heterogeneity of propionic acidemia: analysis of 15 Japanese patients.</strong> Hum. Genet. 87: 41-44, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2037281/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2037281</a>] [<a href="https://doi.org/10.1007/BF01213089" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2037281">Ohura et al. (1991)</a> found that both the alpha and beta subunits were absent in 3 and low in 3 others; according to their previous data, they concluded that these 6 patients had an alpha-subunit defect. In 8 other patients, alpha subunits were normal, but the beta subunits were aberrant; these patients were considered to have beta-subunit defects. One of the 15 patients had apparently normal alpha and beta subunits. An altered MspI restriction pattern for PCCB cDNA, consisting of a unique 2.7-kb band, was found in 3 patients with beta-subunit deficiency. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3687944+2037281+2741949" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#15" class="mim-tip-reference" title="Jurecki, E., Ueda, K., Frazier, D., Rohr, F., Thompson, A., Hussa, C., Obernolte, L., Reineking, B., Roberts, A. M., Yannicelli, S., Osara, Y., Stembridge, A., Splett, P., Singh, R. H. <strong>Nutrition management guideline for propionic acidemia: an evidence and consensus-based approach.</strong> Molec. Genet. Metab. 126: 341-354, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30879957/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30879957</a>] [<a href="https://doi.org/10.1016/j.ymgme.2019.02.007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30879957">Jurecki et al. (2019)</a> stated that the incidence of propionic acidemia has been reported to be 1 in 100,000 newborns in Europe and 1:242,741 in the United States, but as high as 1:2,000 to 1:40,000 newborns in areas of the world with higher rates of consanguinity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30879957" 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="#5" class="mim-tip-reference" title="Buchanan, P. D., Kahler, S. G., Sweetman, L., Nyhan, W. L. <strong>Pitfalls in the prenatal diagnosis of propionic acidemia.</strong> Clin. Genet. 18: 177-183, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6934053/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6934053</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1980.tb00867.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6934053">Buchanan et al. (1980)</a> pointed out that propionic acidemia can be diagnosed either by an elevated quantity of the metabolite methylcitrate in amniotic fluid or by deficient activity of propionyl-CoA carboxylase in amniocytes. Contamination by maternal cells can give a normal value for the latter determination; methylcitrate assay may be the most reliable approach. <a href="#24" class="mim-tip-reference" title="Perez-Cerda, C., Merinero, B., Sanz, P., Jimenez, A., Garcia, M. J., Urbon, A., Diaz Recasens, J., Ramos, C., Ayuso, C., Ugarte, M. <strong>Successful first trimester diagnosis in a pregnancy at risk for propionic acidaemia.</strong> J. Inherit. Metab. Dis. 12 (suppl. 2): 274-276, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2512424/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2512424</a>] [<a href="https://doi.org/10.1007/BF03335396" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2512424">Perez-Cerda et al. (1989)</a> successfully diagnosed PCC deficiency in the first trimester of pregnancy by direct enzyme assay in uncultured chorionic villi. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6934053+2512424" 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="#19" class="mim-tip-reference" title="Muro, S., Perez-Cerda, C., Rodriguez-Pombo, P., Perez, B., Briones, P., Ribes, A., Ugarte, M. <strong>Feasibility of DNA based methods for prenatal diagnosis and carrier detection of propionic acidaemia.</strong> J. Med. Genet. 36: 412-414, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10353789/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10353789</a>]" pmid="10353789">Muro et al. (1999)</a> reported prenatal diagnosis of an affected fetus based on DNA analysis in chorionic villus tissue in a family where the proband had previously been shown to carry the 1170insT mutation (<a href="/entry/232050#0004">232050.0004</a>) and a private leu519-to-pro (L519P) mutation in the PCCB gene. <a href="#19" class="mim-tip-reference" title="Muro, S., Perez-Cerda, C., Rodriguez-Pombo, P., Perez, B., Briones, P., Ribes, A., Ugarte, M. <strong>Feasibility of DNA based methods for prenatal diagnosis and carrier detection of propionic acidaemia.</strong> J. Med. Genet. 36: 412-414, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10353789/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10353789</a>]" pmid="10353789">Muro et al. (1999)</a> also assessed carrier status in this family by DNA analysis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10353789" 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 severe metabolic ketoacidosis in this disorder requires vigorous alkali therapy and protein restriction. Oral antibiotic therapy to reduce gut propionate production may also prove useful (<a href="#8" class="mim-tip-reference" title="Fenton, W. A., Gravel, R. A., Rosenblatt, D. S. <strong>Disorders of propionate and methylmalonate metabolism. In: Scriver, C. R.; Beaudet, A. L.; Sly, W. S.; Valle, D. (eds.): The Metabolic and Molecular Bases of Inherited Disease. Vol. II. (8th ed.)</strong> New York: McGraw-Hill (pub.) 2001. P. 2176."None>Fenton et al., 2001</a>).</p><p><a href="#29" class="mim-tip-reference" title="Van Calcar, S. C., Harding, C. O., Davidson, S. R., Barness, L. A., Wolff, J. A. <strong>Case reports of successful pregnancy in women with maple syrup urine disease and propionic acidemia.</strong> Am. J. Med. Genet. 44: 641-646, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1481826/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1481826</a>] [<a href="https://doi.org/10.1002/ajmg.1320440523" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1481826">Van Calcar et al. (1992)</a> described a 22-year-old woman whose first episode of acute acidosis occurred at age 6 months following an upper respiratory infection; diagnosis of propionic acidemia was delayed until the age of 6.5 years. They gave detailed information on her pregnancy, which resulted in the birth of a healthy infant. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1481826" 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="#15" class="mim-tip-reference" title="Jurecki, E., Ueda, K., Frazier, D., Rohr, F., Thompson, A., Hussa, C., Obernolte, L., Reineking, B., Roberts, A. M., Yannicelli, S., Osara, Y., Stembridge, A., Splett, P., Singh, R. H. <strong>Nutrition management guideline for propionic acidemia: an evidence and consensus-based approach.</strong> Molec. Genet. Metab. 126: 341-354, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30879957/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30879957</a>] [<a href="https://doi.org/10.1016/j.ymgme.2019.02.007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30879957">Jurecki et al. (2019)</a> reported the outcome of a project to provide consensus recommendations for nutrition management of propionic acidemia based on literature reviews, surveys and expert input. Guidelines were provided for age-associated protein intake for well patients. Recommendations for nutrition management with the highest strength of evidence included regular nutrition assessments with monitoring of age-appropriate anthropometrics, the provision of intact protein rather than single L-amino acids to patients with low levels of plasma propiogenic amino acids, and development of an emergency home feeding and nutrition plan for patients with mild intercurrent illness. Other recommendations with a high strength of evidence included use of hormonal birth control in women who have metabolic instability during their menstrual cycle and establishment of good metabolic control prior to a conception. There was strong evidence that patients who have liver transplantation should receive protein at the daily recommended intake with increases beyond the daily recommended intake as tolerated, with lifetime biochemical and clinical monitoring. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30879957" 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="#30" class="mim-tip-reference" title="Wenger, O., Brown, M., Smith, B., Chowdhury, D., Crosby, A. H., Baple, E. L., Yoder, M., Laxen, W., Tortorelli, S., Strauss, K. A. <strong>Biochemical phenotype and its relationship to treatment in 16 individuals with PCCB c.1606A-G (p.Asn536Asp) variant propionic acidemia.</strong> Molec. Genet. Metab. 131: 316-324, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33127324/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33127324</a>] [<a href="https://doi.org/10.1016/j.ymgme.2020.09.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33127324">Wenger et al. (2020)</a> compared clinical and laboratory parameters in 16 individuals with propionic acidemia who were homozygous for an N536D mutation in the PCCB gene before and after suspension of therapy for 2 weeks. Medical foods, citrate, carnitine, coenzyme Q10, and biotin were suspended, and dietary protein was modestly restricted to between 1 and 1.5 g/kg/day. The authors found that suspension of therapy in these patients did not significantly alter branched chain amino acids, their alpha-ketoacid derivatives, urine ketones, or urine concentrations of most TCA cycle intermediates. There were no reliable correlations between therapeutic biomarkers (serum isoleucine, acetylcarnitine levels, TCA cycle intermediates), measures of PCC deficiency (plasma and urine methylcitrate, propionylcarnitine, glycine), and/or cardiac measures (ejection fraction, QTc interval). Carnitine supplementation significantly increased urine propionylcarnitine and its ratio to total carnitine. The patients remained clinically well during suspension of therapy. <a href="#30" class="mim-tip-reference" title="Wenger, O., Brown, M., Smith, B., Chowdhury, D., Crosby, A. H., Baple, E. L., Yoder, M., Laxen, W., Tortorelli, S., Strauss, K. A. <strong>Biochemical phenotype and its relationship to treatment in 16 individuals with PCCB c.1606A-G (p.Asn536Asp) variant propionic acidemia.</strong> Molec. Genet. Metab. 131: 316-324, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33127324/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33127324</a>] [<a href="https://doi.org/10.1016/j.ymgme.2020.09.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33127324">Wenger et al. (2020)</a> concluded that treatment of individuals homozygous for the N536D mutation in the PCCB gene with protein restriction, prescription formula, and/or dietary supplements had limited effects on biomarkers of PCC deficiency. However, the data suggested that enteral carnitine supplementation is important for clearance of propionic acid, even though it may have a therapeutic effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33127324" 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="Koeberl, D., Schulze, A., Sondheimer, N., Lipshutz, G. S., Geberhiwot, T., Li, L., Saini, R., Luo, J., Sikirica, V., Jin, L., Liang, M., Leuchars, M., Grunewald, S. <strong>Interim analyses of a first-in-human phase 1/2 mRNA trial for propionic acidaemia.</strong> Nature 628: 872-877, 2024. Note: Erratum: Nature 629: E10, 2024; Erratum: Nature 630: E13, 2024.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/38570682/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">38570682</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=38570682[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/10.1038/s41586-024-07266-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="38570682">Koeberl et al. (2024)</a> treated 16 patients with propionic acidemia due to biallelic mutations in PCCA or PCCB with a lipid nanoparticle containing a PCCA or PCCB mRNA. This was a dose escalation study with an optional dose-optimized open-label extension. Two patients discontinued the study. Twelve patients completed the dose optimization phase and continued to the open label phase of the study, and 2 were still in the dose optimization phase at the time of the data report. The frequency of major decompensation events was reduced by 70% in the dose optimization phase compared to the 12-month pretreatment period. One patient experienced an episode of pancreatitis attributed to the treatment, and continued on the study at a reduced dose. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=38570682" 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="#28" class="mim-tip-reference" title="Ugarte, M., Perez-Cerda, C., Rodriguez-Pombo, P., Desviat, L. R., Perez, B., Richard, E., Muro, S., Campeau, E., Ohura, T., Gravel, R. A. <strong>Overview of mutations in the PCCA and PCCB genes causing propionic acidemia.</strong> Hum. Mutat. 14: 275-282, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10502773/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10502773</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(199910)14:4<275::AID-HUMU1>3.0.CO;2-N" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10502773">Ugarte et al. (1999)</a> reviewed mutations in the PCCA and PCCB genes. A total of 24 PCCA mutations had been reported, mostly missense point mutations and a variety of splicing defects. No mutation was predominant in the Caucasian or Asian populations studied. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10502773" 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>Among 10 patients with propionic acidemia, <a href="#7" class="mim-tip-reference" title="Desviat, L. R., Clavero, S., Perez-Cerda, C., Navarrete, R., Ugarte, M., Perez, B. <strong>New splicing mutations in propionic acidemia.</strong> J. Hum. Genet. 51: 992-997, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17051315/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17051315</a>] [<a href="https://doi.org/10.1007/s10038-006-0068-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17051315">Desviat et al. (2006)</a> identified 4 different PCCA splice site mutations and 3 different PCCB splice site mutations. The authors emphasized the different molecular effects of splicing mutations and the possible phenotypic consequences. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17051315" 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="#36" class="mim-tip-reference" title="Zhao, C., Wang, Y., Yang, H., Wang, S., Tang, M.-C., Cyr, D., Parente, F., Allard, P., Waters, P., Furtos, A., Yang, G., Mitchell, G. A. <strong>Propionic acidemia in mice: liver acyl-CoA levels and clinical course.</strong> Molec. Genet. Metab. 135: 47-55, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/34896004/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">34896004</a>] [<a href="https://doi.org/10.1016/j.ymgme.2021.11.011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="34896004">Zhao et al. (2022)</a> developed a hypomorphic mouse model of propionic acidemia that had a complete knockout of the endogenous Pcca gene and heterozygosity for a human PCCA transgene with a hypomorphic A138T mutation. Starting at 3 weeks of age, the mutant mice had lower body weight and increased mortality compared to controls. Plasma C0- and C2-carnitine levels and the C3/C2 acylcarnitine levels were elevated in the mutant mice compared to controls. The mutant mice were studied during their basal state and if they displayed an acutely ill state. Blood ammonia levels and liver propionyl-CoA levels were elevated in the basal state and further elevated in the acutely ill state in the mutant mice compared to controls. Liver acetyl-CoA levels were lower in the basal state in the mutant mice and further lowered in the acutely ill state in the mutant mice compared to controls. Treatment of the mutant mice with carglumate resulted in lowered blood ammonia levels and improved growth. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=34896004" 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="#Ando1971" class="mim-tip-reference" title="Ando, T., Rasmussen, K., Nyhan, W. L., Donnell, G. N., Barnes, N. D. <strong>Propionicacidemia in patients with ketotic hyperglycinemia.</strong> J. Pediat. 78: 827-832, 1971.">Ando et al. (1971)</a>; <a href="#Barnes1970" class="mim-tip-reference" title="Barnes, N. D., Hull, D., Balgobin, L., Gompertz, D. <strong>Biotin-responsive propionicacidaemia.</strong> Lancet 296: 244-245, 1970. Note: Originally Volume II.">Barnes et al. (1970)</a>; <a href="#Gompertz1975" class="mim-tip-reference" title="Gompertz, D., Goodey, P. A., Thom, H., Russell, G., Johnston, A. W., Mellor, D. H., MacLean, M. W., Ferguson-Smith, M. E., Ferguson-Smith, M. A. <strong>Prenatal diagnosis and family studies in a case of propionicacidaemia.</strong> Clin. Genet. 8: 244-250, 1975.">Gompertz et al. (1975)</a>; <a href="#Nyhan1961" class="mim-tip-reference" title="Nyhan, W. L., Borden, M., Childs, B. <strong>Idiopathic hyperglycinemia: a new disorder of amino-acids metabolism. II. The concentrations of other amino-acids in the plasma and their modification by the administration of leucine.</strong> Pediatrics 27: 539-550, 1961.">Nyhan et al. (1961)</a>; <a href="#Nyhan1963" class="mim-tip-reference" title="Nyhan, W. L., Chisolm, J. J., Jr., Edwards, R. O., Jr. <strong>Idiopathic hyperglycinuria. III. Report of a second case.</strong> J. Pediat. 62: 540-545, 1963.">Nyhan et al. (1963)</a>; <a href="#Steinman1983" class="mim-tip-reference" title="Steinman, L., Clancy, R. R., Cann, H., Urich, H. <strong>The neuropathology of propionic acidemia.</strong> Dev. Med. Child Neurol. 25: 87-94, 1983.">Steinman et al. (1983)</a>; <a href="#Wolf1979" class="mim-tip-reference" title="Wolf, B., Paulsen, E. P., Hsia, Y. E. <strong>Asymptomatic propionyl CoA carboxylase deficiency in a 13-year-old girl.</strong> J. Pediat. 95: 563-565, 1979.">Wolf et al. (1979)</a>
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<strong>REFERENCES</strong>
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[<a href="https://doi.org/10.1111/j.1399-0004.1998.tb03702.x" target="_blank">Full Text</a>]
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<a id="Ando1971" class="mim-anchor"></a>
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Ando, T., Rasmussen, K., Nyhan, W. L., Donnell, G. N., Barnes, N. D.
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<strong>Propionicacidemia in patients with ketotic hyperglycinemia.</strong>
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[<a href="https://doi.org/10.1016/s0022-3476(71)80354-2" target="_blank">Full Text</a>]
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<a id="Barnes1970" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Barnes, N. D., Hull, D., Balgobin, L., Gompertz, D.
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<strong>Biotin-responsive propionicacidaemia.</strong>
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Lancet 296: 244-245, 1970. Note: Originally Volume II.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4193693/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4193693</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4193693" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0140-6736(70)92590-0" target="_blank">Full Text</a>]
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<a id="Brandt1974" class="mim-anchor"></a>
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Brandt, I. K., Hsia, E., Clement, D. H., Provence, S. A.
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<strong>Propionicacidemia (ketotic hyperglycinemia): dietary treatment resulting in normal growth and development.</strong>
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<a id="Buchanan1980" class="mim-anchor"></a>
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Buchanan, P. D., Kahler, S. G., Sweetman, L., Nyhan, W. L.
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<strong>Pitfalls in the prenatal diagnosis of propionic acidemia.</strong>
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Clin. Genet. 18: 177-183, 1980.
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[<a href="https://doi.org/10.1111/j.1399-0004.1980.tb00867.x" target="_blank">Full Text</a>]
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<a id="Childs1961" class="mim-anchor"></a>
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Childs, B., Nyhan, W. L., Borden, M., Bard, L., Cooke, R. E.
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<strong>Idiopathic hyperglycinemia and hyperglycinuria: a new disorder of amino acid metabolism.</strong>
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[<a href="https://doi.org/10.1007/s10038-006-0068-3" target="_blank">Full Text</a>]
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<a id="Fenton2001" class="mim-anchor"></a>
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Fenton, W. A., Gravel, R. A., Rosenblatt, D. S.
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<strong>Disorders of propionate and methylmalonate metabolism. In: Scriver, C. R.; Beaudet, A. L.; Sly, W. S.; Valle, D. (eds.): The Metabolic and Molecular Bases of Inherited Disease. Vol. II. (8th ed.)</strong>
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New York: McGraw-Hill (pub.) 2001. P. 2176.
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<a id="9" class="mim-anchor"></a>
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<a id="Gompertz1970" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Gompertz, D., Bau, D. C. K., Storrs, C. N., Peters, T. J., Hughes, E. A.
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<strong>Localisation of enzymic defect in propionicacidaemia.</strong>
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Lancet 295: 1140-1143, 1970. Note: Originally Volume I.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4192098/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4192098</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4192098" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0140-6736(70)91216-x" target="_blank">Full Text</a>]
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<a id="Gompertz1975" class="mim-anchor"></a>
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<div class="">
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Gompertz, D., Goodey, P. A., Thom, H., Russell, G., Johnston, A. W., Mellor, D. H., MacLean, M. W., Ferguson-Smith, M. E., Ferguson-Smith, M. A.
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<strong>Prenatal diagnosis and family studies in a case of propionicacidaemia.</strong>
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Clin. Genet. 8: 244-250, 1975.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1183068/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1183068</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1183068" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.1975.tb01499.x" target="_blank">Full Text</a>]
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<a id="Hillman1978" class="mim-anchor"></a>
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Hillman, R. E., Keating, J. P., Williams, J. C.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/632987/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">632987</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=632987" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0022-3476(78)80441-7" target="_blank">Full Text</a>]
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<a id="Hommes1968" class="mim-anchor"></a>
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Hommes, F. A., Kuipers, J. R. G., Elema, J. D., Jansen, J. F., Jonxis, J. H. P.
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<strong>Propionicacidemia, a new inborn error of metabolism.</strong>
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[<a href="https://doi.org/10.1203/00006450-196811000-00010" target="_blank">Full Text</a>]
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<a id="Hsia1969" class="mim-anchor"></a>
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Hsia, Y. E., Scully, K. J., Rosenberg, L. E.
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<strong>Defective propionate carboxylation in ketotic hyperglycinaemia.</strong>
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[<a href="https://doi.org/10.1016/s0140-6736(69)91757-7" target="_blank">Full Text</a>]
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<a id="Hsia1971" class="mim-anchor"></a>
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Hsia, Y. E., Scully, K. J., Rosenberg, L. E.
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[<a href="https://doi.org/10.1172/JCI106466" target="_blank">Full Text</a>]
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Jurecki, E., Ueda, K., Frazier, D., Rohr, F., Thompson, A., Hussa, C., Obernolte, L., Reineking, B., Roberts, A. M., Yannicelli, S., Osara, Y., Stembridge, A., Splett, P., Singh, R. H.
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[<a href="https://doi.org/10.1016/j.ymgme.2019.02.007" target="_blank">Full Text</a>]
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Koeberl, D., Schulze, A., Sondheimer, N., Lipshutz, G. S., Geberhiwot, T., Li, L., Saini, R., Luo, J., Sikirica, V., Jin, L., Liang, M., Leuchars, M., Grunewald, S.
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<strong>Interim analyses of a first-in-human phase 1/2 mRNA trial for propionic acidaemia.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/38570682/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">38570682</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=38570682[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=38570682" 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/10.1038/s41586-024-07266-7" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/j.ymgme.2022.10.007" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0022-3476(63)80012-8" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF01213089" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF03335396" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/j.ymgme.2020.09.006" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0022-3476(79)80768-4" target="_blank">Full Text</a>]
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Wolf, B., Willard, H. F., Rosenberg, L. E.
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<strong>Kinetic analysis genetic complementation in heterokaryons of propionyl CoA carboxylase-deficient human fibroblasts.</strong>
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Am. J. Hum. Genet. 32: 16-25, 1980.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7361761/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7361761</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7361761" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Wolf1986" class="mim-anchor"></a>
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<div class="">
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Wolf, B.
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<strong>Personal Communication.</strong>
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Richmond, Va. 1/2/1986.
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Zhao, C., Wang, Y., Yang, H., Wang, S., Tang, M.-C., Cyr, D., Parente, F., Allard, P., Waters, P., Furtos, A., Yang, G., Mitchell, G. A.
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<strong>Propionic acidemia in mice: liver acyl-CoA levels and clinical course.</strong>
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Molec. Genet. Metab. 135: 47-55, 2022.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/34896004/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">34896004</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=34896004" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ymgme.2021.11.011" target="_blank">Full Text</a>]
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Hilary J. Vernon - updated : 09/11/2024
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Hilary J. Vernon - updated : 02/09/2023<br>Hilary J. Vernon - updated : 03/28/2022<br>Hilary J. Vernon - updated : 02/26/2021<br>Hilary J. Vernon - updated : 05/11/2020<br>Carol A. Bocchini - updated : 04/23/2020<br>Cassandra L. Kniffin - updated : 10/11/2010<br>Cassandra L. Kniffin - updated : 3/16/2007
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Ada Hamosh : 6/21/2001
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carol : 01/15/2025
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carol : 09/11/2024<br>carol : 08/08/2023<br>carol : 02/09/2023<br>carol : 03/28/2022<br>carol : 02/26/2021<br>carol : 05/11/2020<br>carol : 04/24/2020<br>carol : 07/09/2016<br>wwang : 10/29/2010<br>ckniffin : 10/11/2010<br>terry : 5/12/2010<br>terry : 4/3/2009<br>wwang : 4/2/2007<br>ckniffin : 3/16/2007<br>terry : 4/7/2005<br>ckniffin : 11/23/2004<br>mcapotos : 12/21/2001<br>carol : 6/22/2001<br>carol : 6/22/2001
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<span class="mim-font">
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<strong>#</strong> 606054
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PROPIONIC ACIDEMIA
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<em>Alternative titles; symbols</em>
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PROPIONYL-CoA CARBOXYLASE DEFICIENCY<br />
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PCC DEFICIENCY<br />
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GLYCINEMIA, KETOTIC<br />
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HYPERGLYCINEMIA WITH KETOACIDOSIS AND LEUKOPENIA<br />
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KETOTIC HYPERGLYCINEMIA
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<strong>SNOMEDCT:</strong> 124718009, 69080001;
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<strong>ICD10CM:</strong> E71.121;
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<strong>ORPHA:</strong> 35;
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<strong>DO:</strong> 14701;
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<strong>Phenotype-Gene Relationships</strong>
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Phenotype
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Inheritance
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Phenotype <br /> mapping key
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3q22.3
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Propionicacidemia
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606054
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Autosomal recessive
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3
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PCCB
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232050
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13q32.3
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Propionicacidemia
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606054
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Autosomal recessive
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3
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PCCA
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<span class="mim-font">
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232000
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because propionic acidemia is caused by mutation in the genes encoding propionyl-CoA carboxylase, PCCA (232000) or PCCB (232050). Cells from patients with mutations in the PCCA gene fall into complementation group pccA. Cells from patients with mutations in the PCCB gene fall into complementation group pccBC. Mutations in the pccB subgroup occur in the N terminus of the PCCB gene, which includes the biotin-binding site, whereas mutations in the pccC subgroup occur in the C terminus of the PCCB gene (Fenton et al., 2001).</p>
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<strong>Description</strong>
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<p>Propionic acidemia is an autosomal recessive metabolic disorder caused by defective functioning in the mitochondrial enzyme propionyl CoA carboxylase (PCC), resulting in the accumulation of propionic acid metabolites, and dysfunction in the respiratory chain and urea cycle pathways. The disorder is clinically heterogeneous. A neonatal-onset form is characterized by poor feeding, vomiting, and fatigue in the first days of life in a previously healthy infant, and if untreated, may be followed by lethargy, seizures, coma, and death. The neonatal form is frequently accompanied by metabolic acidosis with anion gap, ketonuria, hypoglycemia, hyperammonemia, and cytopenia. A late-onset form in older children and adults has a milder phenotype, is less common, and may present with developmental regression, chronic vomiting, protein intolerance, failure to thrive, hypotonia, and occasionally basal ganglia infarction, which may result in dystonia and choreoathetosis, and cardiomyopathy. Metabolically unstable individuals can have an acute decompensation that resembles the neonatal presentation, often precipitated by a catabolic stress such as infection, injury, or surgery, or an excessive intake of intact (i.e., complete, dietary, or natural) protein. Long-term manifestations of neonatal and late onset of propionic acidemia can include growth impairment, intellectual disability, seizures, basal ganglia lesions, pancreatitis, and cardiomyopathy. Other less common manifestations include optic atrophy, hearing loss, premature ovarian insufficiency, and chronic renal failure (summary by Jurecki et al., 2019). </p>
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<h4>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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<p>The features of propionic acidemia are episodic vomiting, lethargy and ketosis, neutropenia, periodic thrombocytopenia, hypogammaglobulinemia, developmental retardation, and intolerance to protein. Outstanding chemical features are hyperglycinemia and hyperglycinuria. This disorder is not to be confused with hereditary glycinuria (138500), which is an autosomal dominant disorder.</p><p>Soriano et al. (1967) suggested that in the disorder first described by Childs et al. (1961), a generalized defect in utilization of amino acids results in excessive deamination of certain amino acids in muscle, with consequent hyperammonemia and ketoacidosis. In a second group of patients whose disorder is also termed hyperglycinemia, ketoacidosis, neutropenia, and thrombocytopenia have not been observed and glycine is the only amino acid present in excess in serum and urine; see glycine encephalopathy (605899). </p><p>Hsia et al. (1969) studied fibroblasts from a sister of the boy described by Childs et al. (1961) and demonstrated deficient propionate carboxylation as the basic defect in ketotic hyperglycinemia. Hsia et al. (1971) also showed that 'ketotic hyperglycinemia' is the same as propionic acidemia and is the result of a defect in PCC. In further studies on this patient, Brandt et al. (1974) demonstrated that with low protein diet, growth and intelligence developed normally to age 9 years; indeed, intelligence was superior. The family originally reported by Childs et al. (1961) had the pccA type of propionic acidemia (Wolf, 1986). </p><p>In a male Pakistani offspring of first-cousin parents, Gompertz et al. (1970) described acidosis and ketosis due to propionic acidemia, leading to death at 8 days of age. A sib had died at 2 weeks of age with metabolic acidosis and ketonuria. The defect was found to involve mitochondrial propionyl-CoA carboxylase. The same condition was described by Hommes et al. (1968). </p><p>Al Essa et al. (1998) pointed out that not only do acute intercurrent infections precipitate acidosis in propionic acidemia, but such infections are unusually frequent in propionic acidemia in Saudi Arabia. Propionic acidemia is unusually frequent in Saudi Arabia, with a frequency of 1 in 2,000 to 1 in 5,000, depending on the region. The disorder has a severe phenotype in Saudi Arabia. Al Essa et al. (1998) had information on approximately 90 patients; certain tribes accounted for almost 80% of these cases, suggesting a founder effect. The number of other cases of organic acidemias observed during the same period was 656. Longitudinal data, in some instances up to 8 years, were available for 38 patients with propionic acidemia. A high frequency of infections was observed in 80% of the patients. Most microorganisms implicated were unusual, suggesting an underlying immune deficiency. The infections occurred despite aggressive treatment with appropriate diets, carnitine, and, during acute episodes of the disease, with metronidazole, which suggested a global effect of the disease on T and B lymphocytes as well as on the bone marrow cells. </p><p>In a review of inherited metabolic disorders and stroke, Testai and Gorelick (2010) noted that patients with branched-chain organic aciduria, including isovaleric aciduria (243500), propionic aciduria, and methylmalonic aciduria (251000), can rarely have strokes. Cerebellar hemorrhage has been described in all 3 disorders, and basal ganglia ischemic stroke has been described in propionic aciduria and methylmalonic aciduria. These events may occur in the absence of metabolic decompensation. </p><p>Wenger et al. (2020) compared clinical and laboratory parameters between 16 individuals with propionic acidemia who were homozygous for an N536D mutation in the PCCB gene and 16 unaffected sibs. Affected individuals had a marginally but significantly elevated QTc compared to controls. Median ejection fraction and shortening fraction were significantly lower in patients. There was no difference in serum concentrations of creatine kinase-MB isoenzyme (see 123310), B-type natriuretic peptide (see 600295), or troponin I (see 191044) between patients and controls. </p><p>Kovacevic et al. (2022) evaluated echocardiogram parameters in a cross-sectional cohort of 18 patients with propionic acidemia, with an average age of 13.1 years. Left ventricular global longitudinal strain (LV-GLS) was abnormal in 72% of patients, whereas LV-fractional shortening and ejection fraction were only found to be reduced in 33.3% and 61% of patients, respectively. LV-myocardial performance index was found to be a reliable indicator of LV dysfunction in the setting of a dilated LV. Kovacevic et al. (2022) also observed a significant positive association between the median QTc interval and left ventricular diameter. The likelihood of having abnormal left ventricular functional measures increased with age. Kovacevic et al. (2022) concluded that measures such as LV-GLS may detect earlier or more subtle manifestations of LV dysfunction in propionic acidemia and have an impact on medical management. </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Biochemical Features</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Hillman et al. (1978) observed biotin-responsive propionic acidemia. Wolf and Hsia (1978) suggested that biotin-responsiveness can be tested by measuring propionyl-CoA carboxylase and beta-methylcrotonyl CoA carboxylase (see 609010 and 609014) in peripheral blood leukocytes before and after biotin. From kinetic analysis of complementations in heterokaryons of propionyl CoA carboxylase-deficient fibroblasts, Wolf et al. (1980) concluded that the 'bio' and 'pcc' mutations affect different genes; that complementation between pccA and pccB, pccC or pccBC lines is intergenic with subunit exchange and synthesis of new carboxylase molecules and that complementation between pccB and pccC mutants is interallelic. Wolf and Feldman (1982) considered it likely that the pccBC complementation group reflects mutations of the alpha subunit and the pccA group mutations of the beta subunit. </p><p>Using cDNA clones coding for the alpha and beta chains as probes, Lamhonwah and Gravel (1987) found absence of alpha mRNA in 4 of 6 pccA strains and the presence of beta mRNA in all pccA mutants studied. They also found the presence of both alpha and beta mRNAs in 3 pccBC, 2 pccB, and 3 pccC mutants. Ohura et al. (1989) presented evidence from which they concluded that beta-chain subunits of propionyl-CoA carboxylase are normally synthesized and imported into the mitochondria in excess of alpha-chain subunits, but only that portion assembled with alpha subunits escapes degradation. In pccA patients, the primary defect in alpha-chain synthesis leads secondarily to degradation of normally synthesized beta chains. The differential rates of synthesis of alpha and beta chains appear to account for the finding that persons heterozygous for pccBC mutations have normal carboxylase activity in their cells. Among 15 Japanese patients with propionic acidemia, Ohura et al. (1991) found that both the alpha and beta subunits were absent in 3 and low in 3 others; according to their previous data, they concluded that these 6 patients had an alpha-subunit defect. In 8 other patients, alpha subunits were normal, but the beta subunits were aberrant; these patients were considered to have beta-subunit defects. One of the 15 patients had apparently normal alpha and beta subunits. An altered MspI restriction pattern for PCCB cDNA, consisting of a unique 2.7-kb band, was found in 3 patients with beta-subunit deficiency. </p>
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<br />
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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>Jurecki et al. (2019) stated that the incidence of propionic acidemia has been reported to be 1 in 100,000 newborns in Europe and 1:242,741 in the United States, but as high as 1:2,000 to 1:40,000 newborns in areas of the world with higher rates of consanguinity. </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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<h4>
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<span class="mim-font">
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<strong>Diagnosis</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><strong><em>Prenatal Diagnosis</em></strong></p><p>
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Buchanan et al. (1980) pointed out that propionic acidemia can be diagnosed either by an elevated quantity of the metabolite methylcitrate in amniotic fluid or by deficient activity of propionyl-CoA carboxylase in amniocytes. Contamination by maternal cells can give a normal value for the latter determination; methylcitrate assay may be the most reliable approach. Perez-Cerda et al. (1989) successfully diagnosed PCC deficiency in the first trimester of pregnancy by direct enzyme assay in uncultured chorionic villi. </p><p>Muro et al. (1999) reported prenatal diagnosis of an affected fetus based on DNA analysis in chorionic villus tissue in a family where the proband had previously been shown to carry the 1170insT mutation (232050.0004) and a private leu519-to-pro (L519P) mutation in the PCCB gene. Muro et al. (1999) also assessed carrier status in this family by DNA analysis. </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>Clinical Management</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 severe metabolic ketoacidosis in this disorder requires vigorous alkali therapy and protein restriction. Oral antibiotic therapy to reduce gut propionate production may also prove useful (Fenton et al., 2001).</p><p>Van Calcar et al. (1992) described a 22-year-old woman whose first episode of acute acidosis occurred at age 6 months following an upper respiratory infection; diagnosis of propionic acidemia was delayed until the age of 6.5 years. They gave detailed information on her pregnancy, which resulted in the birth of a healthy infant. </p><p>Jurecki et al. (2019) reported the outcome of a project to provide consensus recommendations for nutrition management of propionic acidemia based on literature reviews, surveys and expert input. Guidelines were provided for age-associated protein intake for well patients. Recommendations for nutrition management with the highest strength of evidence included regular nutrition assessments with monitoring of age-appropriate anthropometrics, the provision of intact protein rather than single L-amino acids to patients with low levels of plasma propiogenic amino acids, and development of an emergency home feeding and nutrition plan for patients with mild intercurrent illness. Other recommendations with a high strength of evidence included use of hormonal birth control in women who have metabolic instability during their menstrual cycle and establishment of good metabolic control prior to a conception. There was strong evidence that patients who have liver transplantation should receive protein at the daily recommended intake with increases beyond the daily recommended intake as tolerated, with lifetime biochemical and clinical monitoring. </p><p>Wenger et al. (2020) compared clinical and laboratory parameters in 16 individuals with propionic acidemia who were homozygous for an N536D mutation in the PCCB gene before and after suspension of therapy for 2 weeks. Medical foods, citrate, carnitine, coenzyme Q10, and biotin were suspended, and dietary protein was modestly restricted to between 1 and 1.5 g/kg/day. The authors found that suspension of therapy in these patients did not significantly alter branched chain amino acids, their alpha-ketoacid derivatives, urine ketones, or urine concentrations of most TCA cycle intermediates. There were no reliable correlations between therapeutic biomarkers (serum isoleucine, acetylcarnitine levels, TCA cycle intermediates), measures of PCC deficiency (plasma and urine methylcitrate, propionylcarnitine, glycine), and/or cardiac measures (ejection fraction, QTc interval). Carnitine supplementation significantly increased urine propionylcarnitine and its ratio to total carnitine. The patients remained clinically well during suspension of therapy. Wenger et al. (2020) concluded that treatment of individuals homozygous for the N536D mutation in the PCCB gene with protein restriction, prescription formula, and/or dietary supplements had limited effects on biomarkers of PCC deficiency. However, the data suggested that enteral carnitine supplementation is important for clearance of propionic acid, even though it may have a therapeutic effect. </p><p>Koeberl et al. (2024) treated 16 patients with propionic acidemia due to biallelic mutations in PCCA or PCCB with a lipid nanoparticle containing a PCCA or PCCB mRNA. This was a dose escalation study with an optional dose-optimized open-label extension. Two patients discontinued the study. Twelve patients completed the dose optimization phase and continued to the open label phase of the study, and 2 were still in the dose optimization phase at the time of the data report. The frequency of major decompensation events was reduced by 70% in the dose optimization phase compared to the 12-month pretreatment period. One patient experienced an episode of pancreatitis attributed to the treatment, and continued on the study at a reduced dose. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Ugarte et al. (1999) reviewed mutations in the PCCA and PCCB genes. A total of 24 PCCA mutations had been reported, mostly missense point mutations and a variety of splicing defects. No mutation was predominant in the Caucasian or Asian populations studied. </p><p>Among 10 patients with propionic acidemia, Desviat et al. (2006) identified 4 different PCCA splice site mutations and 3 different PCCB splice site mutations. The authors emphasized the different molecular effects of splicing mutations and the possible phenotypic consequences. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Zhao et al. (2022) developed a hypomorphic mouse model of propionic acidemia that had a complete knockout of the endogenous Pcca gene and heterozygosity for a human PCCA transgene with a hypomorphic A138T mutation. Starting at 3 weeks of age, the mutant mice had lower body weight and increased mortality compared to controls. Plasma C0- and C2-carnitine levels and the C3/C2 acylcarnitine levels were elevated in the mutant mice compared to controls. The mutant mice were studied during their basal state and if they displayed an acutely ill state. Blood ammonia levels and liver propionyl-CoA levels were elevated in the basal state and further elevated in the acutely ill state in the mutant mice compared to controls. Liver acetyl-CoA levels were lower in the basal state in the mutant mice and further lowered in the acutely ill state in the mutant mice compared to controls. Treatment of the mutant mice with carglumate resulted in lowered blood ammonia levels and improved growth. </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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Ando et al. (1971); Barnes et al. (1970); Gompertz et al. (1975);
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Nyhan et al. (1961); Nyhan et al. (1963); Steinman et al. (1983);
|
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Wolf et al. (1979)
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Al Essa, M., Rahbeeni, Z., Jumaah, S., Joshi, S., Al Jishi, E., Rashed, M. S., Al Amoudi, M., Ozand, P. T.
|
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<strong>Infectious complications of propionic acidemia in Saudia (sic) Arabia.</strong>
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Clin. Genet. 54: 90-94, 1998.
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[PubMed: 9727749]
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[Full Text: https://doi.org/10.1111/j.1399-0004.1998.tb03702.x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Ando, T., Rasmussen, K., Nyhan, W. L., Donnell, G. N., Barnes, N. D.
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<strong>Propionicacidemia in patients with ketotic hyperglycinemia.</strong>
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J. Pediat. 78: 827-832, 1971.
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Barnes, N. D., Hull, D., Balgobin, L., Gompertz, D.
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<strong>Biotin-responsive propionicacidaemia.</strong>
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Lancet 296: 244-245, 1970. Note: Originally Volume II.
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Buchanan, P. D., Kahler, S. G., Sweetman, L., Nyhan, W. L.
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<strong>Pitfalls in the prenatal diagnosis of propionic acidemia.</strong>
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Childs, B., Nyhan, W. L., Borden, M., Bard, L., Cooke, R. E.
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Desviat, L. R., Clavero, S., Perez-Cerda, C., Navarrete, R., Ugarte, M., Perez, B.
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<strong>New splicing mutations in propionic acidemia.</strong>
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Fenton, W. A., Gravel, R. A., Rosenblatt, D. S.
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<strong>Disorders of propionate and methylmalonate metabolism. In: Scriver, C. R.; Beaudet, A. L.; Sly, W. S.; Valle, D. (eds.): The Metabolic and Molecular Bases of Inherited Disease. Vol. II. (8th ed.)</strong>
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New York: McGraw-Hill (pub.) 2001. P. 2176.
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Gompertz, D., Bau, D. C. K., Storrs, C. N., Peters, T. J., Hughes, E. A.
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<strong>Localisation of enzymic defect in propionicacidaemia.</strong>
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Lancet 295: 1140-1143, 1970. Note: Originally Volume I.
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Gompertz, D., Goodey, P. A., Thom, H., Russell, G., Johnston, A. W., Mellor, D. H., MacLean, M. W., Ferguson-Smith, M. E., Ferguson-Smith, M. A.
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<strong>Prenatal diagnosis and family studies in a case of propionicacidaemia.</strong>
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<strong>Biotin-responsive propionic acidemia presenting as the rumination syndrome.</strong>
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J. Pediat. 92: 439-441, 1978.
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Hommes, F. A., Kuipers, J. R. G., Elema, J. D., Jansen, J. F., Jonxis, J. H. P.
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<strong>Propionicacidemia, a new inborn error of metabolism.</strong>
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Pediat. Res. 2: 519-524, 1968.
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Hsia, Y. E., Scully, K. J., Rosenberg, L. E.
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<strong>Defective propionate carboxylation in ketotic hyperglycinaemia.</strong>
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Lancet 293: 757-758, 1969. Note: Originally Volume I.
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Hsia, Y. E., Scully, K. J., Rosenberg, L. E.
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<strong>Inherited propionyl-CoA carboxylase deficiency in 'ketotic hyperglycinemia'.</strong>
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Jurecki, E., Ueda, K., Frazier, D., Rohr, F., Thompson, A., Hussa, C., Obernolte, L., Reineking, B., Roberts, A. M., Yannicelli, S., Osara, Y., Stembridge, A., Splett, P., Singh, R. H.
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<strong>Nutrition management guideline for propionic acidemia: an evidence and consensus-based approach.</strong>
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Molec. Genet. Metab. 126: 341-354, 2019.
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[PubMed: 30879957]
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<p class="mim-text-font">
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Koeberl, D., Schulze, A., Sondheimer, N., Lipshutz, G. S., Geberhiwot, T., Li, L., Saini, R., Luo, J., Sikirica, V., Jin, L., Liang, M., Leuchars, M., Grunewald, S.
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<strong>Interim analyses of a first-in-human phase 1/2 mRNA trial for propionic acidaemia.</strong>
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Nature 628: 872-877, 2024. Note: Erratum: Nature 629: E10, 2024; Erratum: Nature 630: E13, 2024.
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[PubMed: 38570682]
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<p class="mim-text-font">
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Kovacevic, A., Garbade, S. F., Horster, F., Hoffmann, G. F., Gorenflo, M., Mereles, D., Kolker, S., Staufner, C.
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<strong>Detection of early cardiac disease manifestation in propionic acidemia--results of a monocentric cross-sectional study.</strong>
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Molec. Genet. Metab. 137: 349-358, 2022.
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[PubMed: 36395710]
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</p>
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<p class="mim-text-font">
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Lamhonwah, A.-M., Gravel, R. A.
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<strong>Propionicacidemia: absence of alpha-chain mRNA in fibroblasts from patients of the pccA complementation group.</strong>
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[PubMed: 3687944]
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<li>
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<p class="mim-text-font">
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Muro, S., Perez-Cerda, C., Rodriguez-Pombo, P., Perez, B., Briones, P., Ribes, A., Ugarte, M.
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<strong>Feasibility of DNA based methods for prenatal diagnosis and carrier detection of propionic acidaemia.</strong>
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J. Med. Genet. 36: 412-414, 1999.
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[PubMed: 10353789]
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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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Nyhan, W. L., Borden, M., Childs, B.
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<strong>Idiopathic hyperglycinemia: a new disorder of amino-acids metabolism. II. The concentrations of other amino-acids in the plasma and their modification by the administration of leucine.</strong>
|
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Pediatrics 27: 539-550, 1961.
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[PubMed: 13729969]
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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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Nyhan, W. L., Chisolm, J. J., Jr., Edwards, R. O., Jr.
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<strong>Idiopathic hyperglycinuria. III. Report of a second case.</strong>
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J. Pediat. 62: 540-545, 1963.
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[PubMed: 13939302]
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[Full Text: https://doi.org/10.1016/s0022-3476(63)80012-8]
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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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Ohura, T., Kraus, J. P., Rosenberg, L. E.
|
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<strong>Unequal synthesis and differential degradation of propionyl CoA carboxylase subunits in cells from normal and propionic acidemia patients.</strong>
|
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Am. J. Hum. Genet. 45: 33-40, 1989.
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[PubMed: 2741949]
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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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Ohura, T., Miyabayashi, S., Narisawa, K., Tada, K.
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<strong>Genetic heterogeneity of propionic acidemia: analysis of 15 Japanese patients.</strong>
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Hum. Genet. 87: 41-44, 1991.
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[PubMed: 2037281]
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[Full Text: https://doi.org/10.1007/BF01213089]
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</p>
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