2871 lines
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Entry
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- #255120 - CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY
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- OMIM
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<p>
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<span class="h4">#255120</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<li role="presentation">
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<a href="/clinicalSynopsis/255120"><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="#diagnosis">Diagnosis</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div style="display: table-cell;">External Links</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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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=1215&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/NBK1527/" 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://medlineplus.gov/genetics/condition/carnitine-palmitoyltransferase-i-deficiency" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=255120[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/C0_C16+C18.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/C16-C18-Elevated-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=156" 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 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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<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:0090129" 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/255120" 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:0090129" 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-heading mim-panel-heading" role="tab" id="mimCellLines">
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</div>
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</a>
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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:255120" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
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<span>
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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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</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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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 238001003<br />
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<strong>ORPHA:</strong> 156<br />
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<strong>DO:</strong> 0090129<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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255120
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</span>
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</span>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY
|
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<div>
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<h4>
|
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<span class="mim-font">
|
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CARNITINE PALMITOYLTRANSFERASE IA DEFICIENCY<br />
|
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CPT I DEFICIENCY<br />
|
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CPT DEFICIENCY, HEPATIC, TYPE I
|
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
|
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<h4>
|
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
|
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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Location
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Phenotype
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<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/11/688?start=-3&limit=10&highlight=688">
|
|
11q13.3
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
CPT deficiency, hepatic, type IA
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/255120"> 255120 </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">
|
|
CPT1A
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600528"> 600528 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
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|
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<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/255120" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
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|
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|
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|
|
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|
|
|
|
<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/255120" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/255120" 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> 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">
|
|
|
|
- Cardiomegaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/8186001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">8186001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I51.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I51.7</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/429.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">429.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018800&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018800</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001640" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001640</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001640" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001640</a>]</span><br /> -
|
|
Cardiac rhythm disturbances <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/698247007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">698247007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I49.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I49.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/427.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">427.9</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/427" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">427</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0003811&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003811</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011675" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011675</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011675" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011675</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> ABDOMEN </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Liver </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hepatomegaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/80515008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">80515008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R16.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R16.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/789.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">789.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0019209&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0019209</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002240" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002240</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002240" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002240</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Gastrointestinal </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Poor feeding <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/299698007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">299698007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/78164000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">78164000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R63.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R63.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0576456&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0576456</a>, <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 /> -
|
|
Diarrhea <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/267060006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">267060006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/62315008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">62315008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R19.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R19.7</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/787.91" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">787.91</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0011991&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011991</a>, <a href="https://bioportal.bioontology.org/search?q=C2169706&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2169706</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002014" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002014</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002014" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002014</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MUSCLE, SOFT TISSUES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Muscle weakness is not a feature <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1850721&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1850721</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> NEUROLOGIC </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Central Nervous System </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hypotonia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398151007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398151007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398152000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398152000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026827&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026827</a>, <a href="https://bioportal.bioontology.org/search?q=C1858120&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1858120</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001290" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001290</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001252</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001252</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 /> -
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Seizures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/91175000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">91175000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0036572&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0036572</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001250</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001250</a>]</span><br /> -
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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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Encephalopathy, recurrent <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1850719&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1850719</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007335" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007335</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/81308009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">81308009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G93.40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G93.40</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/348.30" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">348.30</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/348.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">348.3</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001298" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001298</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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- Hypoketotic hypoglycemia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856438&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856438</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001985" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001985</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001985" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001985</a>]</span><br /> -
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Renal tubular acidosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1776003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1776003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N25.89" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N25.89</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0001126&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0001126</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001947" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001947</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001947" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001947</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> PRENATAL MANIFESTATIONS </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<div>
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<span class="h5 mim-font">
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<em> Maternal </em>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Acute fatty liver in pregnancy (fetus with carnitine palmitoyltransferase I (CPT1) deficiency) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1850720&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1850720</a>]</span><br /> -
|
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HELLP syndrome <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95605009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95605009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/O14.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">O14.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0162739&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0162739</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> LABORATORY ABNORMALITIES </strong>
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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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- Mild to moderate hyperammonemia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854694&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854694</a>]</span><br /> -
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Transient hyperlipidemia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1850722&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1850722</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008279" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008279</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008279" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008279</a>]</span><br /> -
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Elevated creatine kinase <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/432352001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">432352001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0853034&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0853034</a>, <a href="https://bioportal.bioontology.org/search?q=C0151576&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151576</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003236" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003236</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003236" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003236</a>]</span><br /> -
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Elevated transaminases <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0438717&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0438717</a>, <a href="https://bioportal.bioontology.org/search?q=C2242708&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2242708</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002910" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002910</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002910" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002910</a>]</span><br /> -
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No dicarboxylic aciduria <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1850723&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1850723</a>]</span><br /> -
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No ketonuria <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1850724&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1850724</a>]</span><br /> -
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Normal to elevated total plasma carnitine <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1850725&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1850725</a>]</span><br /> -
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Elevated free carnitine <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1850726&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1850726</a>]</span><br /> -
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Carnitine palmitoyltransferase I deficiency (fibroblast, liver, leukocytes) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1850727&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1850727</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/238001003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">238001003</a>]</span><br /> -
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Decreased CPT1 activity <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1850728&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1850728</a>]</span><br /> -
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Decreased long-chain fatty acid oxidation <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1850729&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1850729</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> MISCELLANEOUS </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Onset <30 months<br /> -
|
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Precipitated by infection, fasting, or intercurrent illness<br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> MOLECULAR BASIS </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Caused by mutation in the carnitine palmitoyltransferase IA gene (CPT1A, <a href="/entry/600528#0001">600528.0001</a>)<br />
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</span>
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</div>
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</div>
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<div class="text-right">
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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</div>
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<div>
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<br />
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</h4>
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<div id="mimTextFold" class="collapse in ">
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because carnitine palmitoyltransferase deficiency I is caused by homozygous or compound heterozygous mutation in the gene encoding carnitine palmitoyltransferase IA (CPT1A; <a href="/entry/600528">600528</a>) on chromosome 11q13.</p>
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<br />
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<p>Carnitine palmitoyltransfease I deficiency is an autosomal recessive metabolic disorder of long-chain fatty acid oxidation characterized by severe episodes of hypoketotic hypoglycemia usually occurring after fasting or illness. Onset is in infancy or early childhood (<a href="#2" class="mim-tip-reference" title="Bougneres, P. F., Saudubray, J. M., Marsac, C., Bernard, O., Odievre, M., Girard, J. <strong>Fasting hypoglycemia resulting from hepatic carnitine palmitoyl transferase deficiency.</strong> J. Pediat. 98: 742-746, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7014807/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7014807</a>] [<a href="https://doi.org/10.1016/s0022-3476(81)80834-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7014807">Bougneres et al., 1981</a>) <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7014807" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#2" class="mim-tip-reference" title="Bougneres, P. F., Saudubray, J. M., Marsac, C., Bernard, O., Odievre, M., Girard, J. <strong>Fasting hypoglycemia resulting from hepatic carnitine palmitoyl transferase deficiency.</strong> J. Pediat. 98: 742-746, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7014807/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7014807</a>] [<a href="https://doi.org/10.1016/s0022-3476(81)80834-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7014807">Bougneres et al. (1981)</a> reported 2 sisters who developed severe hypoketotic hypoglycemia at age 8 months, resulting in death in 1 of them. Other features included hepatomegaly, nonketotic hypoglycemia, and coma. Liver CPT activity was absent in the patient who was tested. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7014807" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Demaugre, F., Bonnefont, J.-P., Mitchell, G., Nguyen-Hoang, N., Pelet, A., Rimoldi, M., Di Donato, S., Saudubray, J.-M. <strong>Hepatic and muscular presentations of carnitine palmitoyl transferase deficiency: two distinct entities.</strong> Pediat. Res. 24: 308-311, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3211616/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3211616</a>] [<a href="https://doi.org/10.1203/00006450-198809000-00006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3211616">Demaugre et al. (1988)</a> reported 2 patients with carnitine palmitoyltransferase deficiency and hepatic symptoms. Biochemical analysis of fibroblasts showed a decrease in CPT1 activity which resulted in impaired long-chain fatty acid oxidation. <a href="#1" class="mim-tip-reference" title="Bonnefont, J. P., Haas, R., Wolff, J., Thuy, L. P., Buchta, R., Carroll, J. E., Saudubray, J.-M., Demaugre, F., Nyhan, W. L. <strong>Deficiency of carnitine palmitoyltransferase I.</strong> J. Child Neurol. 4: 197-202, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2768784/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2768784</a>] [<a href="https://doi.org/10.1177/088307388900400310" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2768784">Bonnefont et al. (1989)</a> reported a patient who presented at age 14 months with seizures and hypoketotic hypoglycemia. Administration of medium-chain triglycerides relieved the hypoglycemia and generated a brisk ketogenesis. Biochemical analysis showed decreased CPT I activity (approximately 10% of controls) in fibroblasts; oxidation of palmitate was about 5% of controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3211616+2768784" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Falik-Borenstein, T. C., Jordan, S. C., Saudubray, J. M., Edmond, J., Cederbaum, S. D. <strong>Carnitine palmitoyl transferase I deficiency (CPT I). (Abstract)</strong> Am. J. Hum. Genet. 45 (suppl.): A5, 1989."None>Falik-Borenstein et al. (1989)</a> reported a 26-month-old Mexican female born to parents from a sparsely populated genetic isolate. Beginning at 1 year of age, she had suffered 3 severe Reye syndrome-like episodes precipitated by mild viral illnesses. These episodes were characterized by coma, aketotic hypoglycemia, mild hyperammonemia, elevated serum transaminases, elevated plasma free fatty acids, and hepatomegaly with fatty infiltration. Recovery with glucose treatment and other nonspecific measures was accompanied by severe hypertriglyceridemia. Renal tubular acidosis, both proximal and distal, was noted. Within 20 minutes of administration of medium-chain triglycerides, plasma glucose rose to 75 mg/% without hypertriglyceridemia. After 2 months of treatment with medium-chain triglycerides, renal tubular acidosis completely resolved. <a href="#5" class="mim-tip-reference" title="Falik-Borenstein, Z. C., Jordan, S. C., Saudubray, J.-M., Brivet, M., Demaugre, F., Edmond, J., Cederbaum, S. D. <strong>Renal tubular acidosis in carnitine palmitoyltransferase type I deficiency.</strong> New Eng. J. Med. 327: 24-27, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1598098/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1598098</a>] [<a href="https://doi.org/10.1056/NEJM199207023270105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1598098">Falik-Borenstein et al. (1992)</a> reported a girl with CPT I deficiency in whom clinical manifestations began at 14 months of age and were followed by renal tubular acidosis. Therapy with medium-chain triglycerides resulted in the disappearance of the renal defects, catch-up growth within 2 months, and the ability to tolerate viral infections without developing hypoglycemia or other problems. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1598098" 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 boy with CPT I deficiency, <a href="#14" class="mim-tip-reference" title="Stanley, C. A., Sunaryo, F., Hale, D. E., Bonnefont, J.-P., Demaugre, F., Saudubray, J.-M. <strong>Elevated plasma carnitine in the hepatic form of carnitine palmitoyltransferase-1 deficiency.</strong> J. Inherit. Metab. Dis. 15: 785-789, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1434517/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1434517</a>] [<a href="https://doi.org/10.1007/BF01800021" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1434517">Stanley et al. (1992)</a> found that plasma carnitine levels were twice the normal levels. Urinary dicarboxylic acids were not elevated. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1434517" 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>Haworth et al. (<a href="#7" class="mim-tip-reference" title="Haworth, J. C., Coates, P. M., Demaugre, F., Dilling, L. A., Seargeant, L. E., Moroz, S. P., Booth, F. A., Seshia, S. S. <strong>Hepatic carnitine palmityltransferase (CPT I) deficiency: 3 patients in a Hutterite family. (Abstract)</strong> Pediat. Res. 29: 130A, 1991."None>1991</a>, <a href="#8" class="mim-tip-reference" title="Haworth, J. C., Demaugre, F., Booth, F. A., Dilling, L. A., Moroz, S. P., Seshia, S. S., Seargeant, L. E., Coates, P. M. <strong>Atypical features of the hepatic form of carnitine palmitoyltransferase deficiency in a Hutterite family.</strong> J. Pediat. 121: 553-557, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1403388/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1403388</a>] [<a href="https://doi.org/10.1016/s0022-3476(05)81143-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1403388">1992</a>) described this disorder in a brother and sister and a female second cousin in an extended Hutterite family. The patients were first seen between 8 and 18 months of age with recurrent episodes of hypoketotic hypoglycemia accompanied by a decreased level of consciousness and hepatomegaly. One patient had 2 Reye syndrome-like episodes. The patients were successfully treated with medium-chain triglycerides and avoidance of fasting. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1403388" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="IJlst, L., Mandel, H., Oostheim, W., Ruiter, J. P. N., Gutman, A., Wanders, R. J. A. <strong>Molecular basis of hepatic carnitine palmitoyltransferase I deficiency.</strong> J. Clin. Invest. 102: 527-531, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9691089/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9691089</a>] [<a href="https://doi.org/10.1172/JCI2927" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9691089">IJlst et al. (1998)</a> reported a child, born of consanguineous parents, who presented at age 15 months with diarrhea and feeding difficulties. She was hypotonic and lethargic, and physical examination showed hepatomegaly, hypoketotic hypoglycemia, and elevated liver function tests. Biochemical studies showed decreased beta-oxidation of long-chain fatty acids and decreased CPT Ia activity and protein levels. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9691089" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#10" class="mim-tip-reference" title="Innes, A. M., Seargeant, L. E., Balachandra, K., Roe, C. R., Wanders, R. J. A., Ruiter, J. P. N., Casiro, O., Grewar, D. A., Greenberg, C. R. <strong>Hepatic carnitine palmitoyltransferase I deficiency presenting as maternal illness in pregnancy.</strong> Pediat. Res. 47: 43-45, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10625081/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10625081</a>] [<a href="https://doi.org/10.1203/00006450-200001000-00010" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10625081">Innes et al. (2000)</a> reported a 19-year-old Inuit woman who presented in pregnancy with acute fatty liver of pregnancy and hyperemesis gravidarum. Laboratory analysis showed elevated liver enzymes, direct hyperbilirubinemia, and ultrasound findings consistent with fatty liver. After induced labor and delivery, the mother's illness resolved. A second pregnancy was complicated by hyperemesis without documented liver disease. Biochemical analysis showed decreased fibroblast palmitate oxidation in both offspring (34% and 14% of control, respectively) and in the mother (50% of control). Both offspring had complete absence of CPT I activity. <a href="#10" class="mim-tip-reference" title="Innes, A. M., Seargeant, L. E., Balachandra, K., Roe, C. R., Wanders, R. J. A., Ruiter, J. P. N., Casiro, O., Grewar, D. A., Greenberg, C. R. <strong>Hepatic carnitine palmitoyltransferase I deficiency presenting as maternal illness in pregnancy.</strong> Pediat. Res. 47: 43-45, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10625081/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10625081</a>] [<a href="https://doi.org/10.1203/00006450-200001000-00010" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10625081">Innes et al. (2000)</a> postulated that the defect in long-chain fatty acid oxidation in the fetus produced abnormal metabolites that entered the maternal circulation, leading to liver toxicity, hepatocellular necrosis, and acute fatty liver. The findings increased the spectrum of disorders of the fetus causing maternal liver disease in pregnancy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10625081" 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="#11" class="mim-tip-reference" title="Olpin, S. E., Allen, J., Bonham, J. R., Clark, S., Clayton, P. T., Calvin, J., Downing, M., Ives, K., Jones, S., Manning, N. J., Pollitt, R. J., Standing, S. J., Tanner, M. S. <strong>Features of carnitine palmitoyltransferase type I deficiency.</strong> J. Inherit. Metab. Dis. 24: 35-42, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11286380/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11286380</a>] [<a href="https://doi.org/10.1023/a:1005694320063" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11286380">Olpin et al. (2001)</a> reported 4 cases of CPT I deficiency in 3 families showing variable renal tubular acidosis, transient hyperlipidemia, and, paradoxically, myopathy with elevated creatine kinase or cardiac involvement in the neonatal period. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11286380" 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="#13" class="mim-tip-reference" title="Sim, K. G., Wiley, V., Carpenter, K., Wilcken, B. <strong>Carnitine palmitoyltransferase I deficiency in neonate identified by dried blood spot free carnitine and acylcarnitine profile.</strong> J. Inherit. Metab. Dis. 24: 51-59, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11286383/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11286383</a>] [<a href="https://doi.org/10.1023/a:1005606805951" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11286383">Sim et al. (2001)</a> described a neonate at risk for hepatic CPT I deficiency who was investigated from birth. The free carnitine and acylcarnitine profile in dried whole blood filter paper samples collected at ages 1 and 4 days showed a markedly elevated concentration of free carnitine (141 and 142 micromoles per liter), normal concentrations of acetyl- and propionylcarnitine, with the near absence of all other species. The newborn population distribution of free carnitine (n = 143,981) showed that only 3 samples had free carnitine of greater than 140 micromoles per liter, 2 from CPT I-deficient neonates and 1 from a baby with sepsis. <a href="#13" class="mim-tip-reference" title="Sim, K. G., Wiley, V., Carpenter, K., Wilcken, B. <strong>Carnitine palmitoyltransferase I deficiency in neonate identified by dried blood spot free carnitine and acylcarnitine profile.</strong> J. Inherit. Metab. Dis. 24: 51-59, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11286383/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11286383</a>] [<a href="https://doi.org/10.1023/a:1005606805951" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11286383">Sim et al. (2001)</a> concluded that whereas there are other conditions that can cause elevated concentrations of free carnitine, an isolated elevation of free carnitine in an apparently healthy term neonate warrants further investigation to exclude CPT I deficiency. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11286383" 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="#12" class="mim-tip-reference" title="Roomets, E., Lundbom, N., Pihko, H., Heikkinen, S., Tyni, T. <strong>Lipids detected by brain MRS during coma caused by carnitine palmitoyltransferase 1 deficiency.</strong> Neurology 67: 1516-1517, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17060594/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17060594</a>] [<a href="https://doi.org/10.1212/01.wnl.0000240118.82937.ed" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17060594">Roomets et al. (2006)</a> reported brain proton MR spectroscopy (MRS) findings in an infant with CPT I deficiency. At age 11 months, she presented with coma after fasting and showed hepatomegaly and metabolic acidosis. Brain MRI was normal, but MRS showed a high N-acetyl aspartate/choline ratio, excess of glutamine/glutamate, and large lipid peaks in the thalamus, white matter, and cortex. Biochemical and genetic analysis confirmed the diagnosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17060594" 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="#9" class="mim-tip-reference" title="IJlst, L., Mandel, H., Oostheim, W., Ruiter, J. P. N., Gutman, A., Wanders, R. J. A. <strong>Molecular basis of hepatic carnitine palmitoyltransferase I deficiency.</strong> J. Clin. Invest. 102: 527-531, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9691089/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9691089</a>] [<a href="https://doi.org/10.1172/JCI2927" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9691089">IJlst et al. (1998)</a> confirmed autosomal recessive inheritance of CPT I deficiency. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9691089" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a patient with CPT I deficiency, <a href="#9" class="mim-tip-reference" title="IJlst, L., Mandel, H., Oostheim, W., Ruiter, J. P. N., Gutman, A., Wanders, R. J. A. <strong>Molecular basis of hepatic carnitine palmitoyltransferase I deficiency.</strong> J. Clin. Invest. 102: 527-531, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9691089/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9691089</a>] [<a href="https://doi.org/10.1172/JCI2927" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9691089">IJlst et al. (1998)</a> identified a homozygous mutation in the CPT1A gene (<a href="/entry/600528#0001">600528.0001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9691089" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Gobin, S., Bonnefont, J.-P., Prip-Buus, C., Mugnier, C., Ferrec, M., Demaugre, F., Saudubray, J.-M., Rostane, H., Djouadi, F., Wilcox, W., Cederbaum, S., Haas, R., Nyhan, W. L., Green, A., Gray, G., Girard, J., Thuillier, L. <strong>Organization of the human liver carnitine palmitoyltransferase 1 gene (CPT1A) and identification of novel mutations in hypoketotic hypoglycaemia.</strong> Hum. Genet. 111: 179-189, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12189492/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12189492</a>] [<a href="https://doi.org/10.1007/s00439-002-0752-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12189492">Gobin et al. (2002)</a> characterized 6 novel mutations in 4 CPT1A-deficient patients (<a href="/entry/600528#0003">600528.0003</a>-<a href="/entry/600528#0008">600528.0008</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12189492" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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[<a href="https://doi.org/10.1177/088307388900400310" target="_blank">Full Text</a>]
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Bougneres, P. F., Saudubray, J. M., Marsac, C., Bernard, O., Odievre, M., Girard, J.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7014807/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7014807</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7014807" 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(81)80834-7" target="_blank">Full Text</a>]
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Demaugre, F., Bonnefont, J.-P., Mitchell, G., Nguyen-Hoang, N., Pelet, A., Rimoldi, M., Di Donato, S., Saudubray, J.-M.
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<strong>Hepatic and muscular presentations of carnitine palmitoyl transferase deficiency: two distinct entities.</strong>
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Pediat. Res. 24: 308-311, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3211616/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3211616</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3211616" 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/10.1203/00006450-198809000-00006" target="_blank">Full Text</a>]
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<a id="Falik-Borenstein1989" class="mim-anchor"></a>
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Falik-Borenstein, T. C., Jordan, S. C., Saudubray, J. M., Edmond, J., Cederbaum, S. D.
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<strong>Carnitine palmitoyl transferase I deficiency (CPT I). (Abstract)</strong>
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Am. J. Hum. Genet. 45 (suppl.): A5, 1989.
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Falik-Borenstein, Z. C., Jordan, S. C., Saudubray, J.-M., Brivet, M., Demaugre, F., Edmond, J., Cederbaum, S. D.
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<strong>Renal tubular acidosis in carnitine palmitoyltransferase type I deficiency.</strong>
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New Eng. J. Med. 327: 24-27, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1598098/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1598098</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1598098" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1056/NEJM199207023270105" target="_blank">Full Text</a>]
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Gobin, S., Bonnefont, J.-P., Prip-Buus, C., Mugnier, C., Ferrec, M., Demaugre, F., Saudubray, J.-M., Rostane, H., Djouadi, F., Wilcox, W., Cederbaum, S., Haas, R., Nyhan, W. L., Green, A., Gray, G., Girard, J., Thuillier, L.
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<strong>Organization of the human liver carnitine palmitoyltransferase 1 gene (CPT1A) and identification of novel mutations in hypoketotic hypoglycaemia.</strong>
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Hum. Genet. 111: 179-189, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12189492/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12189492</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12189492" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s00439-002-0752-0" target="_blank">Full Text</a>]
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Haworth, J. C., Coates, P. M., Demaugre, F., Dilling, L. A., Seargeant, L. E., Moroz, S. P., Booth, F. A., Seshia, S. S.
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<strong>Hepatic carnitine palmityltransferase (CPT I) deficiency: 3 patients in a Hutterite family. (Abstract)</strong>
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Pediat. Res. 29: 130A, 1991.
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<a id="Haworth1992" class="mim-anchor"></a>
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Haworth, J. C., Demaugre, F., Booth, F. A., Dilling, L. A., Moroz, S. P., Seshia, S. S., Seargeant, L. E., Coates, P. M.
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<strong>Atypical features of the hepatic form of carnitine palmitoyltransferase deficiency in a Hutterite family.</strong>
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J. Pediat. 121: 553-557, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1403388/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1403388</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1403388" 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(05)81143-6" target="_blank">Full Text</a>]
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<a id="IJlst1998" class="mim-anchor"></a>
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IJlst, L., Mandel, H., Oostheim, W., Ruiter, J. P. N., Gutman, A., Wanders, R. J. A.
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<strong>Molecular basis of hepatic carnitine palmitoyltransferase I deficiency.</strong>
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J. Clin. Invest. 102: 527-531, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9691089/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9691089</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9691089" 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/10.1172/JCI2927" target="_blank">Full Text</a>]
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Innes, A. M., Seargeant, L. E., Balachandra, K., Roe, C. R., Wanders, R. J. A., Ruiter, J. P. N., Casiro, O., Grewar, D. A., Greenberg, C. R.
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<strong>Hepatic carnitine palmitoyltransferase I deficiency presenting as maternal illness in pregnancy.</strong>
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Pediat. Res. 47: 43-45, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10625081/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10625081</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10625081" 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/10.1203/00006450-200001000-00010" target="_blank">Full Text</a>]
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Olpin, S. E., Allen, J., Bonham, J. R., Clark, S., Clayton, P. T., Calvin, J., Downing, M., Ives, K., Jones, S., Manning, N. J., Pollitt, R. J., Standing, S. J., Tanner, M. S.
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<strong>Features of carnitine palmitoyltransferase type I deficiency.</strong>
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J. Inherit. Metab. Dis. 24: 35-42, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11286380/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11286380</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11286380" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1023/a:1005694320063" target="_blank">Full Text</a>]
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Roomets, E., Lundbom, N., Pihko, H., Heikkinen, S., Tyni, T.
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<strong>Lipids detected by brain MRS during coma caused by carnitine palmitoyltransferase 1 deficiency.</strong>
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Neurology 67: 1516-1517, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17060594/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17060594</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17060594" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1212/01.wnl.0000240118.82937.ed" target="_blank">Full Text</a>]
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Sim, K. G., Wiley, V., Carpenter, K., Wilcken, B.
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<strong>Carnitine palmitoyltransferase I deficiency in neonate identified by dried blood spot free carnitine and acylcarnitine profile.</strong>
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J. Inherit. Metab. Dis. 24: 51-59, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11286383/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11286383</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11286383" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1023/a:1005606805951" target="_blank">Full Text</a>]
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Stanley, C. A., Sunaryo, F., Hale, D. E., Bonnefont, J.-P., Demaugre, F., Saudubray, J.-M.
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<strong>Elevated plasma carnitine in the hepatic form of carnitine palmitoyltransferase-1 deficiency.</strong>
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J. Inherit. Metab. Dis. 15: 785-789, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1434517/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1434517</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1434517" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/BF01800021" target="_blank">Full Text</a>]
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 9/14/2007
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Cassandra L. Kniffin - reorganized : 8/23/2004<br>Cassandra L. Kniffin - updated : 8/19/2004<br>Victor A. McKusick - updated : 10/10/2002<br>Victor A. McKusick - updated : 8/7/2002<br>Ada Hamosh - updated : 4/17/2001<br>Victor A. McKusick - updated : 10/1/1998
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Creation Date:
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<span class="mim-text-font">
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Victor A. McKusick : 6/4/1986
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carol : 09/03/2024
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carol : 08/30/2024<br>carol : 08/20/2015<br>wwang : 9/21/2007<br>ckniffin : 9/14/2007<br>terry : 3/23/2006<br>carol : 8/1/2005<br>carol : 8/23/2004<br>ckniffin : 8/19/2004<br>ckniffin : 8/17/2004<br>tkritzer : 10/10/2002<br>carol : 8/7/2002<br>tkritzer : 8/7/2002<br>alopez : 4/17/2001<br>carol : 10/6/1998<br>terry : 10/1/1998<br>mimman : 2/8/1996<br>mark : 10/2/1995<br>carol : 7/13/1995<br>terry : 6/3/1995<br>davew : 6/6/1994<br>pfoster : 5/12/1994<br>carol : 9/23/1993
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<span class="mim-font">
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<strong>#</strong> 255120
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<h3>
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CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY
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<em>Alternative titles; symbols</em>
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CARNITINE PALMITOYLTRANSFERASE IA DEFICIENCY<br />
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CPT I DEFICIENCY<br />
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CPT DEFICIENCY, HEPATIC, TYPE I
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<strong>SNOMEDCT:</strong> 238001003;
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<strong>ORPHA:</strong> 156;
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<strong>DO:</strong> 0090129;
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<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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Location
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Phenotype
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</th>
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<span class="mim-font">
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11q13.3
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<span class="mim-font">
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CPT deficiency, hepatic, type IA
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<span class="mim-font">
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255120
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Autosomal recessive
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<span class="mim-font">
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3
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CPT1A
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600528
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because carnitine palmitoyltransferase deficiency I is caused by homozygous or compound heterozygous mutation in the gene encoding carnitine palmitoyltransferase IA (CPT1A; 600528) on chromosome 11q13.</p>
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<strong>Description</strong>
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<p>Carnitine palmitoyltransfease I deficiency is an autosomal recessive metabolic disorder of long-chain fatty acid oxidation characterized by severe episodes of hypoketotic hypoglycemia usually occurring after fasting or illness. Onset is in infancy or early childhood (Bougneres et al., 1981) </p>
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<strong>Clinical Features</strong>
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<p>Bougneres et al. (1981) reported 2 sisters who developed severe hypoketotic hypoglycemia at age 8 months, resulting in death in 1 of them. Other features included hepatomegaly, nonketotic hypoglycemia, and coma. Liver CPT activity was absent in the patient who was tested. </p><p>Demaugre et al. (1988) reported 2 patients with carnitine palmitoyltransferase deficiency and hepatic symptoms. Biochemical analysis of fibroblasts showed a decrease in CPT1 activity which resulted in impaired long-chain fatty acid oxidation. Bonnefont et al. (1989) reported a patient who presented at age 14 months with seizures and hypoketotic hypoglycemia. Administration of medium-chain triglycerides relieved the hypoglycemia and generated a brisk ketogenesis. Biochemical analysis showed decreased CPT I activity (approximately 10% of controls) in fibroblasts; oxidation of palmitate was about 5% of controls. </p><p>Falik-Borenstein et al. (1989) reported a 26-month-old Mexican female born to parents from a sparsely populated genetic isolate. Beginning at 1 year of age, she had suffered 3 severe Reye syndrome-like episodes precipitated by mild viral illnesses. These episodes were characterized by coma, aketotic hypoglycemia, mild hyperammonemia, elevated serum transaminases, elevated plasma free fatty acids, and hepatomegaly with fatty infiltration. Recovery with glucose treatment and other nonspecific measures was accompanied by severe hypertriglyceridemia. Renal tubular acidosis, both proximal and distal, was noted. Within 20 minutes of administration of medium-chain triglycerides, plasma glucose rose to 75 mg/% without hypertriglyceridemia. After 2 months of treatment with medium-chain triglycerides, renal tubular acidosis completely resolved. Falik-Borenstein et al. (1992) reported a girl with CPT I deficiency in whom clinical manifestations began at 14 months of age and were followed by renal tubular acidosis. Therapy with medium-chain triglycerides resulted in the disappearance of the renal defects, catch-up growth within 2 months, and the ability to tolerate viral infections without developing hypoglycemia or other problems. </p><p>In a boy with CPT I deficiency, Stanley et al. (1992) found that plasma carnitine levels were twice the normal levels. Urinary dicarboxylic acids were not elevated. </p><p>Haworth et al. (1991, 1992) described this disorder in a brother and sister and a female second cousin in an extended Hutterite family. The patients were first seen between 8 and 18 months of age with recurrent episodes of hypoketotic hypoglycemia accompanied by a decreased level of consciousness and hepatomegaly. One patient had 2 Reye syndrome-like episodes. The patients were successfully treated with medium-chain triglycerides and avoidance of fasting. </p><p>IJlst et al. (1998) reported a child, born of consanguineous parents, who presented at age 15 months with diarrhea and feeding difficulties. She was hypotonic and lethargic, and physical examination showed hepatomegaly, hypoketotic hypoglycemia, and elevated liver function tests. Biochemical studies showed decreased beta-oxidation of long-chain fatty acids and decreased CPT Ia activity and protein levels. </p><p>Innes et al. (2000) reported a 19-year-old Inuit woman who presented in pregnancy with acute fatty liver of pregnancy and hyperemesis gravidarum. Laboratory analysis showed elevated liver enzymes, direct hyperbilirubinemia, and ultrasound findings consistent with fatty liver. After induced labor and delivery, the mother's illness resolved. A second pregnancy was complicated by hyperemesis without documented liver disease. Biochemical analysis showed decreased fibroblast palmitate oxidation in both offspring (34% and 14% of control, respectively) and in the mother (50% of control). Both offspring had complete absence of CPT I activity. Innes et al. (2000) postulated that the defect in long-chain fatty acid oxidation in the fetus produced abnormal metabolites that entered the maternal circulation, leading to liver toxicity, hepatocellular necrosis, and acute fatty liver. The findings increased the spectrum of disorders of the fetus causing maternal liver disease in pregnancy. </p><p>Olpin et al. (2001) reported 4 cases of CPT I deficiency in 3 families showing variable renal tubular acidosis, transient hyperlipidemia, and, paradoxically, myopathy with elevated creatine kinase or cardiac involvement in the neonatal period. </p>
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</span>
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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>Sim et al. (2001) described a neonate at risk for hepatic CPT I deficiency who was investigated from birth. The free carnitine and acylcarnitine profile in dried whole blood filter paper samples collected at ages 1 and 4 days showed a markedly elevated concentration of free carnitine (141 and 142 micromoles per liter), normal concentrations of acetyl- and propionylcarnitine, with the near absence of all other species. The newborn population distribution of free carnitine (n = 143,981) showed that only 3 samples had free carnitine of greater than 140 micromoles per liter, 2 from CPT I-deficient neonates and 1 from a baby with sepsis. Sim et al. (2001) concluded that whereas there are other conditions that can cause elevated concentrations of free carnitine, an isolated elevation of free carnitine in an apparently healthy term neonate warrants further investigation to exclude CPT I deficiency. </p><p>Roomets et al. (2006) reported brain proton MR spectroscopy (MRS) findings in an infant with CPT I deficiency. At age 11 months, she presented with coma after fasting and showed hepatomegaly and metabolic acidosis. Brain MRI was normal, but MRS showed a high N-acetyl aspartate/choline ratio, excess of glutamine/glutamate, and large lipid peaks in the thalamus, white matter, and cortex. Biochemical and genetic analysis confirmed the diagnosis. </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Inheritance</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>IJlst et al. (1998) confirmed autosomal recessive inheritance of CPT I deficiency. </p>
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</span>
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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>In a patient with CPT I deficiency, IJlst et al. (1998) identified a homozygous mutation in the CPT1A gene (600528.0001). </p><p>Gobin et al. (2002) characterized 6 novel mutations in 4 CPT1A-deficient patients (600528.0003-600528.0008). </p>
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</span>
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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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Bonnefont, J. P., Haas, R., Wolff, J., Thuy, L. P., Buchta, R., Carroll, J. E., Saudubray, J.-M., Demaugre, F., Nyhan, W. L.
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<strong>Deficiency of carnitine palmitoyltransferase I.</strong>
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J. Child Neurol. 4: 197-202, 1989.
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[PubMed: 2768784]
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[Full Text: https://doi.org/10.1177/088307388900400310]
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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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Bougneres, P. F., Saudubray, J. M., Marsac, C., Bernard, O., Odievre, M., Girard, J.
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<strong>Fasting hypoglycemia resulting from hepatic carnitine palmitoyl transferase deficiency.</strong>
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J. Pediat. 98: 742-746, 1981.
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[PubMed: 7014807]
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[Full Text: https://doi.org/10.1016/s0022-3476(81)80834-7]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Demaugre, F., Bonnefont, J.-P., Mitchell, G., Nguyen-Hoang, N., Pelet, A., Rimoldi, M., Di Donato, S., Saudubray, J.-M.
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<strong>Hepatic and muscular presentations of carnitine palmitoyl transferase deficiency: two distinct entities.</strong>
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Pediat. Res. 24: 308-311, 1988.
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[PubMed: 3211616]
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[Full Text: https://doi.org/10.1203/00006450-198809000-00006]
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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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Falik-Borenstein, T. C., Jordan, S. C., Saudubray, J. M., Edmond, J., Cederbaum, S. D.
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<strong>Carnitine palmitoyl transferase I deficiency (CPT I). (Abstract)</strong>
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Am. J. Hum. Genet. 45 (suppl.): A5, 1989.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Falik-Borenstein, Z. C., Jordan, S. C., Saudubray, J.-M., Brivet, M., Demaugre, F., Edmond, J., Cederbaum, S. D.
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<strong>Renal tubular acidosis in carnitine palmitoyltransferase type I deficiency.</strong>
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New Eng. J. Med. 327: 24-27, 1992.
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[PubMed: 1598098]
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[Full Text: https://doi.org/10.1056/NEJM199207023270105]
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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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Gobin, S., Bonnefont, J.-P., Prip-Buus, C., Mugnier, C., Ferrec, M., Demaugre, F., Saudubray, J.-M., Rostane, H., Djouadi, F., Wilcox, W., Cederbaum, S., Haas, R., Nyhan, W. L., Green, A., Gray, G., Girard, J., Thuillier, L.
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<strong>Organization of the human liver carnitine palmitoyltransferase 1 gene (CPT1A) and identification of novel mutations in hypoketotic hypoglycaemia.</strong>
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Hum. Genet. 111: 179-189, 2002.
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[PubMed: 12189492]
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[Full Text: https://doi.org/10.1007/s00439-002-0752-0]
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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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Haworth, J. C., Coates, P. M., Demaugre, F., Dilling, L. A., Seargeant, L. E., Moroz, S. P., Booth, F. A., Seshia, S. S.
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<strong>Hepatic carnitine palmityltransferase (CPT I) deficiency: 3 patients in a Hutterite family. (Abstract)</strong>
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Pediat. Res. 29: 130A, 1991.
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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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Haworth, J. C., Demaugre, F., Booth, F. A., Dilling, L. A., Moroz, S. P., Seshia, S. S., Seargeant, L. E., Coates, P. M.
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<strong>Atypical features of the hepatic form of carnitine palmitoyltransferase deficiency in a Hutterite family.</strong>
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J. Pediat. 121: 553-557, 1992.
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[PubMed: 1403388]
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[Full Text: https://doi.org/10.1016/s0022-3476(05)81143-6]
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Innes, A. M., Seargeant, L. E., Balachandra, K., Roe, C. R., Wanders, R. J. A., Ruiter, J. P. N., Casiro, O., Grewar, D. A., Greenberg, C. R.
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Olpin, S. E., Allen, J., Bonham, J. R., Clark, S., Clayton, P. T., Calvin, J., Downing, M., Ives, K., Jones, S., Manning, N. J., Pollitt, R. J., Standing, S. J., Tanner, M. S.
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Roomets, E., Lundbom, N., Pihko, H., Heikkinen, S., Tyni, T.
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Victor A. McKusick : 6/4/1986
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