3011 lines
226 KiB
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Entry
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- #212138 - CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY; CACTD
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- OMIM
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<p>
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<span class="h4">#212138</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/212138"><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="#inheritance">Inheritance</a>
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<a href="#clinicalManagement">Clinical Management</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#history">History</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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</h4>
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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<div id="mimProteinLinksFold" 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://hprd.org/summary?hprd_id=01953&isoform_id=01953_1&isoform_name=Isoform_1" class="mim-tip-hint" title="The Human Protein Reference Database; manually extracted and visually depicted information on human proteins." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HPRD', 'domain': 'hprd.org'})">HPRD</a></div>
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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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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</a>
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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-ACYLCARNITINE TRANSLOCASE 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=3343&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/NBK582032/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/1115" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://medlineplus.gov/genetics/condition/carnitine-acylcarnitine-translocase-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=212138[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/Carnitine-Palmitoyltransferase-2-Deficiency-ACT-Sheet.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=159" 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 panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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<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:0111585" 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/212138" 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:0111585" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://catalog.coriell.org/Search?q=OmimNum:212138" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
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</div>
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<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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<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> 238003000<br />
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<strong>ORPHA:</strong> 159<br />
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<strong>DO:</strong> 0111585<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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212138
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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-ACYLCARNITINE TRANSLOCASE DEFICIENCY; CACTD
|
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|
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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 />
|
|
</div>
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|
|
|
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<div>
|
|
<a id="alternativeTitles" class="mim-anchor"></a>
|
|
<div>
|
|
<p>
|
|
<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
CACT DEFICIENCY
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
</div>
|
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<div>
|
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<br />
|
|
</div>
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</div>
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|
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<div>
|
|
<a id="phenotypeMap" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/3/292?start=-3&limit=10&highlight=292">
|
|
3p21.31
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Carnitine-acylcarnitine translocase deficiency
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/212138"> 212138 </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">
|
|
SLC25A20
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613698"> 613698 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/212138" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/212138" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/212138" 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">
|
|
|
|
- Cardiomyopathy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/85898001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">85898001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/57809008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">57809008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I51.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I51.5</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/I42" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I42</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/I42.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I42.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/425" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">425</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0878544&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0878544</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001638" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001638</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001638" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001638</a>]</span><br /> -
|
|
Arrhythmias <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> RESPIRATORY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Respiratory insufficiency <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/409622000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">409622000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/409623005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">409623005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/J96.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">J96.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1145670&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1145670</a>, <a href="https://bioportal.bioontology.org/search?q=C0035229&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0035229</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002878" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002878</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0002093" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002093</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002093" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002093</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> ABDOMEN </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Liver </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hepatic dysfunction <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/75183008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">75183008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0086565&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0086565</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001410" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001410</a>, <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 />
|
|
|
|
</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">
|
|
|
|
- Skeletal muscle damage <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3806200&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3806200</a>]</span><br /> -
|
|
Rhabdomyolysis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/240131006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">240131006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/89010004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">89010004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M62.82" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M62.82</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/728.88" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">728.88</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0035410&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0035410</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003201" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003201</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003201" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003201</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 /> -
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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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Irritability <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/55929007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">55929007</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/799.22" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">799.22</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0022107&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022107</a>, <a href="https://bioportal.bioontology.org/search?q=C2700617&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2700617</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000737" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000737</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000737" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000737</a>]</span><br /> -
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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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<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 style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Hypoketotic hypoglycemia under fasting conditions <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3806204&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3806204</a>]</span><br />
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</span>
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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 style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Hyperammonemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/9360008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">9360008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E72.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E72.20</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5574662&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5574662</a>, <a href="https://bioportal.bioontology.org/search?q=C0220994&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0220994</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001987" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001987</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001987" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001987</a>]</span><br /> -
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Increased serum creatine kinase <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0241005&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0241005</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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Abnormal liver enzymes <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/166643006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">166643006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0438237&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0438237</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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Dicarboxylic aciduria <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856432&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856432</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003215" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003215</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003215" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003215</a>]</span><br /> -
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Low free carnitine <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3806201&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3806201</a>]</span><br /> -
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Increased long-chain acylcarnitines <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1833530&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1833530</a>]</span><br />
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</span>
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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 in the neonatal period<br /> -
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Early death may occur<br /> -
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Later onset with a milder phenotype may also occur<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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<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 solute carrier family 25 (carnitine/acylcarnitine translocase), member 20 gene (CACT, <a href="/entry/613698#0001">613698.0001</a>)<br />
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</span>
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<div class="text-right">
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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</div>
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<div>
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<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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</span>
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</h4>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because carnitine-acylcarnitine translocase deficiency (CACTD) is caused by homozygous or compound heterozygous mutation in the SLC25A20 (<a href="/entry/613698">613698</a>) gene on chromosome 3p21.</p>
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<br />
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<div>
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<a id="description" class="mim-anchor"></a>
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Description</strong>
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</h4>
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<span class="mim-text-font">
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<p>Carnitine-acylcarnitine translocase deficiency is a rare autosomal recessive metabolic disorder of long-chain fatty acid oxidation. Metabolic consequences include hypoketotic hypoglycemia under fasting conditions, hyperammonemia, elevated creatine kinase and transaminases, dicarboxylic aciduria, very low free carnitine and abnormal acylcarnitine profile with marked elevation of the long-chain acylcarnitines. Clinical features include neurologic abnormalities, cardiomyopathy and arrhythmias, skeletal muscle damage, and liver dysfunction. Most patients become symptomatic in the neonatal period with a rapidly progressive deterioration and a high mortality rate. However, presentations at a later age with a milder phenotype have been reported (summary by <a href="#15" class="mim-tip-reference" title="Rubio-Gozalbo, M. E., Bakker, J. A., Waterham, H. R., Wanders, R. J. <strong>Carnitine-acylcarnitine translocase deficiency, clinical, biochemical and genetic aspects.</strong> Molec. Aspects Med. 25: 521-532, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15363639/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15363639</a>] [<a href="https://doi.org/10.1016/j.mam.2004.06.007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15363639">Rubio-Gozalbo et al., 2004</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15363639" 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>Clinical Features</strong>
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<p>In a newborn male infant who developed seizures, apneic periods, and bradycardia at 36 hours of age, <a href="#16" class="mim-tip-reference" title="Stanley, C. A., Hale, D. E., Berry, G. T., Deleeuw, S., Boxer, J., Bonnefont, J.-P. <strong>A deficiency of carnitine-acylcarnitine translocase in the inner mitochondrial membrane.</strong> New Eng. J. Med. 327: 19-23, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1598097/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1598097</a>] [<a href="https://doi.org/10.1056/NEJM199207023270104" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1598097">Stanley et al. (1992)</a> discovered a deficiency of the carnitine-acylcarnitine translocase (CACT) that transfers fatty acylcarnitines into mitochondria in exchange for free carnitine. The attack was apparently provoked by fasting. He had recurrent premature ventricular contractions, ventricular tachycardia, and hypotension. Subsequently, fasting during intercurrent illnesses provoked several episodes of coma, which responded to intravenous administration of glucose. At 30 months of age, the child had generalized weakness of skeletal muscles. Electrocardiogram showed mild ventricular hypertrophy and echocardiogram showed reduced ejection fraction. He died at 37 months of age of increasing weakness, hepatomegaly, and reduced liver function. The parents were nonconsanguineous and healthy. An older brother had died at 4 days of age, 2 days after a sudden, unexplained cardiorespiratory arrest. <a href="#13" class="mim-tip-reference" title="Pande, S. V., Brivet, M., Slama, A., Demaugre, F., Aufrant, C., Saudubray, J.-M. <strong>Carnitine-acylcarnitine translocase deficiency with severe hypoglycemia and auriculoventricular block: translocase assay in permeabilized fibroblasts.</strong> J. Clin. Invest. 91: 1247-1252, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8450053/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8450053</a>] [<a href="https://doi.org/10.1172/JCI116288" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8450053">Pande et al. (1993)</a> described CACT deficiency with severe hypoketotic hypoglycemia, hyperammonemia, and auriculoventricular block in a male, with healthy first-cousin parents, who died at age 8 days. A total deficiency of CACT was found in fibroblasts by use of the carnitine acetylation assay. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8450053+1598097" 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="Brivet, M., Slama, A., Ogier, H., Boutron, A., Demaugre, F., Saudubray, J., Lemonnier, A. <strong>Diagnosis of carnitine acylcarnitine translocase deficiency by complementation analysis.</strong> J. Inherit. Metab. Dis. 17: 271-274, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7807931/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7807931</a>] [<a href="https://doi.org/10.1007/BF00711805" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7807931">Brivet et al. (1994)</a> identified CACT deficiency in a patient with impaired long-chain fatty acid (LCFA) oxidation by complementation analysis in cultured fibroblasts. Restoration of release of tritiated water from labeled palmitate was used as a criterion for complementation. The 'case' consisted of premature dizygotic twins, both affected. On the second day of life, they both displayed neurologic deterioration associated with hyperammonemia without hypoglycemia. At 2 months, both displayed acute decompensation within the days following the introduction of a normal diet with nocturnal fast. The deterioration was associated with hypoglycemia, hyperammonemia, huge dicarboxylic aciduria, and hypocarnitinemia. From a clinical point of view, both children had intracardiac conduction defects, hepatomegaly, and liver insufficiency. Despite supportive care, they died within a few days. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7807931" 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="Niezen-Koning, K. E., van Spronsen, F. J., Ijlst, L., Wanders, R. J. A., Brivet, M., Duran, M., Reijngoud, D. J., Heymans, H. S. A., Smit, G. P. A. <strong>A patient with lethal cardiomyopathy and a carnitine-acylcarnitine translocase deficiency.</strong> J. Inherit. Metab. Dis. 18: 230-232, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7564255/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7564255</a>] [<a href="https://doi.org/10.1007/BF00711775" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7564255">Niezen-Koning et al. (1995)</a> described an affected child who was the second born in a family in which the first child was probably affected, having died of cardiorespiratory insufficiency 24 hours postpartum. The patient presented at 36 hours postpartum with sudden cardiorespiratory insufficiency, extreme hypoglycemia (glucose not detectable), high potassium, and hyperammonemia. Treatment with carnitine and a low-fat diet supplemented with medium-chain triglycerides were instituted. The patient gradually developed microcephaly with progressive enlargement of the liver and heart. The patient died at 24 months of age. Autopsy demonstrated hypertrophic cardiomegaly and storage fat in liver and striated muscle fibers. The CACT activity in fibroblasts was very low. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7564255" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Brivet, M., Slama, A., Millington, D. S., Roe, C. R., Demaugre, F., LeGrand, A., Boutron, A., Poggi, F., Saudubray, J. M. <strong>Retrospective diagnosis of carnitine/acylcarnitine translocase deficiency by acylcarnitine analysis in the proband Guthrie card and enzymatic studies in the parents.</strong> J. Inherit. Metab. Dis. 19: 181-184, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8739960/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8739960</a>] [<a href="https://doi.org/10.1007/BF01799424" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8739960">Brivet et al. (1996)</a> reported the sudden death of a 2-month-old boy, the fifth child of healthy, unrelated parents. The family history was highly suggestive of an LCFA oxidation defect: 2 sibs had died at 24 and 48 hours of life, respectively. <a href="#2" class="mim-tip-reference" title="Brivet, M., Slama, A., Millington, D. S., Roe, C. R., Demaugre, F., LeGrand, A., Boutron, A., Poggi, F., Saudubray, J. M. <strong>Retrospective diagnosis of carnitine/acylcarnitine translocase deficiency by acylcarnitine analysis in the proband Guthrie card and enzymatic studies in the parents.</strong> J. Inherit. Metab. Dis. 19: 181-184, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8739960/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8739960</a>] [<a href="https://doi.org/10.1007/BF01799424" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8739960">Brivet et al. (1996)</a> assessed the acylcarnitine profile in the blood spots of the fifth child's Guthrie card by tandem mass spectrometry 3 years after the baby's death and found accumulation of long-chain acylcarnitine species. The finding suggested a CACT or carnitine palmitoyltransferase (CPT) II deficiency (see <a href="/entry/608836">608836</a>). CACT activity was determined in both lymphocytes and fibroblasts from the parents and the 2 healthy sibs. The results suggested a carrier status for a CACT deficiency. CPT II activity was normal in the parents and the 2 healthy sibs, confirming the diagnosis of a CACT deficiency. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8739960" 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="Olpin, S. E., Bonham, J. R., Downing, M., Manning, N. J., Pollitt, R. J., Sharrard, M. J., Tanner, M. S. <strong>Carnitine-acylcarnitine translocase deficiency--a mild phenotype.</strong> J. Inherit. Metab. Dis. 20: 714-715, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9323572/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9323572</a>] [<a href="https://doi.org/10.1023/a:1005343013873" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9323572">Olpin et al. (1997)</a> found 6 previous reports of CACT deficiency, all of them showing a severe phenotype with very low or undetectable enzyme activity and very low beta-oxidation flux. All of these patients had a fatal outcome, most of them in the neonatal period, although 1 child survived for 3 years with early medical intervention. On the other hand, <a href="#12" class="mim-tip-reference" title="Olpin, S. E., Bonham, J. R., Downing, M., Manning, N. J., Pollitt, R. J., Sharrard, M. J., Tanner, M. S. <strong>Carnitine-acylcarnitine translocase deficiency--a mild phenotype.</strong> J. Inherit. Metab. Dis. 20: 714-715, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9323572/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9323572</a>] [<a href="https://doi.org/10.1023/a:1005343013873" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9323572">Olpin et al. (1997)</a> described the case of a 15-month-old Pakistani child, the offspring of first-cousin parents, who was admitted to hospital following a prolonged clonic convulsion. Plasma glucose was very low and his urine contained no ketones. His condition improved rapidly with intravenous glucose. He was placed on a high-carbohydrate, low-fat diet with frequent feeds and supplementary L-carnitine, with the recommendation that he should not fast for more than 6 hours. At the age of 2 years his growth and development were normal. His cardiac function, as measured by ultrasonography, had remained normal throughout. CACT activity was measured at 6% of controls and mean residual beta-oxidation activity in lymphocytes and fibroblasts was 16%. The residual enzyme activity presumably accounted for the mild phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9323572" 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="Morris, A. A. M., Olpin, S. E., Brivet, M., Turnbull, D. M., Jones, R. A. K., Leonard, J. V. <strong>A patient with carnitine-acylcarnitine translocase deficiency with a mild phenotype.</strong> J. Pediat. 132: 514-516, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9544911/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9544911</a>] [<a href="https://doi.org/10.1016/s0022-3476(98)70030-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9544911">Morris et al. (1998)</a> reported carnitine-acylcarnitine translocase deficiency in a consanguineous Pakistani family. The fifth child died at 3 months of age. The sixth child died at 2 days of age. Autopsy of this child revealed steatosis of the myocardium, liver, and renal tubules. Urine organic acid analysis showed elevated lactate, dicarboxylic, and hydroxydicarboxylic acids with no ketones. The seventh child was electively admitted to the neonatal unit, breast fed every 3 hours, and given supplemental formula by nasogastric tube. At 3 years of age, the child was physically and developmentally normal with normal echocardiogram, but with mild abnormalities on electromyography of the deltoid. Enzyme assay showed approximately 5% CACT activity. The authors attributed the mild course to residual enzyme activity, but noted that the degree of neonatal lipolysis was another important determinant of the clinical outcome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9544911" 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="Fukushima, T., Kaneoka, H., Yasuno, T., Sasaguri, Y., Tokuyasu, T., Tokoro, K., Fukao, T., Saito, T. <strong>Three novel mutations in the carnitine-acylcarnitine translocase (CACT) gene in patients with CACT deficiency and in healthy individuals.</strong> J. Hum. Genet. 58: 788-793, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24088670/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24088670</a>] [<a href="https://doi.org/10.1038/jhg.2013.103" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24088670">Fukushima et al. (2013)</a> reported 2 unrelated Japanese infants who died of CACT deficiency. One presented at age 2 days with decreased respiratory function, repeated apnea, hypotonia, irritability, oliguria, hypoglycemia, liver dysfunction, and cryptogenic rhabdomyolysis. Plantar blood spots showed an abnormal acylcarnitine profile, consistent with CACT deficiency. The patient died of Reye-like symptoms at age 2 years, 9 months. The other child became cyanotic and flaccid and went into cardiac arrest on day 2 of life; he died the next day. Tandem mass spectrometry analysis of acylcarnitines in a postmortem blood spot card showed increases in C14, C16, and C18 acylcarnitines. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24088670" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Reviews</em></strong></p><p>
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<a href="#14" class="mim-tip-reference" title="Pande, S. V., Murthy, M. S. R. <strong>Carnitine-acylcarnitine translocase deficiency: implications in human pathology.</strong> Biochim. Biophys. Acta 1226: 269-276, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8054358/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8054358</a>] [<a href="https://doi.org/10.1016/0925-4439(94)90037-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8054358">Pande and Murthy (1994)</a> and <a href="#15" class="mim-tip-reference" title="Rubio-Gozalbo, M. E., Bakker, J. A., Waterham, H. R., Wanders, R. J. <strong>Carnitine-acylcarnitine translocase deficiency, clinical, biochemical and genetic aspects.</strong> Molec. Aspects Med. 25: 521-532, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15363639/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15363639</a>] [<a href="https://doi.org/10.1016/j.mam.2004.06.007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15363639">Rubio-Gozalbo et al. (2004)</a> provided reviews of CACT deficiency. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8054358+15363639" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The occurrence of 2 presumably affected sibs in the family reported by <a href="#16" class="mim-tip-reference" title="Stanley, C. A., Hale, D. E., Berry, G. T., Deleeuw, S., Boxer, J., Bonnefont, J.-P. <strong>A deficiency of carnitine-acylcarnitine translocase in the inner mitochondrial membrane.</strong> New Eng. J. Med. 327: 19-23, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1598097/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1598097</a>] [<a href="https://doi.org/10.1056/NEJM199207023270104" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1598097">Stanley et al. (1992)</a> and the parental consanguinity in the case reported by <a href="#13" class="mim-tip-reference" title="Pande, S. V., Brivet, M., Slama, A., Demaugre, F., Aufrant, C., Saudubray, J.-M. <strong>Carnitine-acylcarnitine translocase deficiency with severe hypoglycemia and auriculoventricular block: translocase assay in permeabilized fibroblasts.</strong> J. Clin. Invest. 91: 1247-1252, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8450053/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8450053</a>] [<a href="https://doi.org/10.1172/JCI116288" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8450053">Pande et al. (1993)</a> support autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8450053+1598097" 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="#1" class="mim-tip-reference" title="Al Aqeel, A. I., Rashed, M. S., Wanders, R. J. A. <strong>Carnitine-acylcarnitine translocase deficiency is a treatable disease.</strong> J. Inherit. Metab. Dis. 22: 271-275, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10384385/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10384385</a>] [<a href="https://doi.org/10.1023/a:1005546408659" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10384385">Al Aqeel et al. (1999)</a> described what they thought to be the twelfth case of CACT deficiency and emphasized that the disorder is treatable. The patient had neonatal apneic attacks, nystagmus, and hyperammonemia. Treatment included peritoneal dialysis with a permanent Tenckof catheter in situ, enteral feeding with high calories, low protein, low long-chain fatty acids, medium-chain triglyceride oil, and frequent feedings. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10384385" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Guffon, N., Mochel, F., Schiff, M., De Lonlay, P., Douillard, C., Vianey-Saban, C. <strong>Clinical outcomes in a series of 18 patients with long chain fatty acids oxidation disorders treated with triheptanoin for a median duration of 22 months.</strong> Molec. Genet. Metab. 132: 227-233, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33610471/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33610471</a>] [<a href="https://doi.org/10.1016/j.ymgme.2021.02.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33610471">Guffon et al. (2021)</a> described clinical response to treatment with triheptanoin in 18 patients with disorders of long chain fatty acid oxidation, including 5 with VLCAD deficiency (<a href="/entry/201475">201475</a>), 5 with LCHAD deficiency (<a href="/entry/609016">609016</a>), 3 with CACT deficiency, 3 with CPT II deficiency (<a href="/entry/600649">600649</a>), and 2 with MTP deficiency (<a href="/entry/609015">609015</a>). Treatment duration was for an average of 22 months, with a range of 9 to 228 months. Ten of 12 pediatric patients and 4 of 6 adult patients reported reduction in fatigue and weakness. Eight of 12 pediatric patients and 3 of 6 adult patients experienced reduced intensity of myalgia. Episodes of rhabdomyolysis decreased in 8 of 12 pediatric patients and 3 of 6 adult patients. Of 3 patients who had severe hypoglycemic events in the year prior to starting triheptanoin, none had these events in the year following initiation of therapy. On average, emergency hospital care visits and days of emergency home care were also reduced. In this case series, all 3 patients with CACT deficiency who presented as neonates survived, with the oldest being 12 years of age at the time of report, which is in contrast to the severe mortality rate reported in a prior series of infants who received conventional dietary therapy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33610471" 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>By direct sequencing of CACT cDNA from a CACT-deficient infant, <a href="#6" class="mim-tip-reference" title="Huizing, M., Iacobazzi, V., IJlst, L., Savelkoul, P., Ruitenbeek, W., van den Heuvel, L., Indiveri, C., Smeitink, J., Trijbels, F, Wanders, R., Palmieri, F. <strong>Cloning of the human carnitine-acylcarnitine carrier cDNA and identification of the molecular defect in a patient.</strong> Am. J. Hum. Genet. 61: 1239-1245, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9399886/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9399886</a>] [<a href="https://doi.org/10.1086/301628" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9399886">Huizing et al. (1997)</a> identified a homozygous cytosine nucleotide insertion (<a href="/entry/613698#0001">613698.0001</a>). The insertion caused a frameshift and an extension of the open reading frame with 23 novel codons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9399886" 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 child with CACT deficiency who was the product of a consanguineous marriage, <a href="#8" class="mim-tip-reference" title="Iacobazzi, V., Pasquali, M., Singh, R., Matern, D., Rinaldo, P., di San Filippo, C. A., Palmieri, F., Longo, N. <strong>Response to therapy in carnitine/acylcarnitine translocase (CACT) deficiency due to a novel missense mutation.</strong> Am. J. Med. Genet. 126A: 150-155, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15057979/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15057979</a>] [<a href="https://doi.org/10.1002/ajmg.a.20573" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15057979">Iacobazzi et al. (2004)</a> identified homozygosity for a gln238-to-arg mutation in the SLC25A20 gene (Q238R; <a href="/entry/613698#0007">613698.0007</a>). Both parents were heterozygous for the mutation. The patient presented shortly after birth with cardiac myopathy and arrhythmia coupled with severe nonketotic hypoglycemia. Therapy with a formula which provided most of the fat in the form of medium chain triglycerides as well as carnitine supplementation reduced the concentration of long chain acylcarnitines and reversed cardiac symptoms and hypoglycemia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15057979" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Iacobazzi, V., Invernizzi, F., Baratta, S., Pons, R., Chung, W., Garavaglia, B., Dionisi-Vici, C., Ribes, A., Parini, R., Huertas, M. D., Roldan, S., Lauria, G., Palmieri, F., Taroni, F. <strong>Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency.</strong> Hum. Mutat. 24: 312-320, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15365988/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15365988</a>] [<a href="https://doi.org/10.1002/humu.20085" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15365988">Iacobazzi et al. (2004)</a> found significant clinical heterogeneity among 6 CACT-deficient patients from Italy, Spain, and North America. In 5 patients, the disease manifested in the neonatal period, whereas the remaining patient, the younger sib of an infant who had died with clinical suspicion of fatty acid oxidation defect, had been treated since birth and was clinically asymptomatic at 4.5 years of age. Sequence analysis of the SLC25A20 gene identified 5 novel mutations and 3 previously reported mutations. Combined analysis of clinical, biochemical, and molecular data failed to indicate a correlation between phenotype and genotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15365988" 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 2 unrelated Japanese infants with CACTD, <a href="#4" class="mim-tip-reference" title="Fukushima, T., Kaneoka, H., Yasuno, T., Sasaguri, Y., Tokuyasu, T., Tokoro, K., Fukao, T., Saito, T. <strong>Three novel mutations in the carnitine-acylcarnitine translocase (CACT) gene in patients with CACT deficiency and in healthy individuals.</strong> J. Hum. Genet. 58: 788-793, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24088670/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24088670</a>] [<a href="https://doi.org/10.1038/jhg.2013.103" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24088670">Fukushima et al. (2013)</a> identified compound heterozygous mutations in the CACT gene (<a href="/entry/613698#0006">613698.0006</a>, <a href="/entry/613698#0008">613698.0008</a>-<a href="/entry/613698#0009">613698.0009</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24088670" 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>Mitochondrial oxidation of fatty acids provides the chief source of energy during prolonged fasting as well as for skeletal muscle during exercise and for cardiac muscle. Ten genetic defects in this pathway, diagrammed by <a href="#16" class="mim-tip-reference" title="Stanley, C. A., Hale, D. E., Berry, G. T., Deleeuw, S., Boxer, J., Bonnefont, J.-P. <strong>A deficiency of carnitine-acylcarnitine translocase in the inner mitochondrial membrane.</strong> New Eng. J. Med. 327: 19-23, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1598097/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1598097</a>] [<a href="https://doi.org/10.1056/NEJM199207023270104" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1598097">Stanley et al. (1992)</a>, had been recognized in infants and children, including LCAD deficiency (see VLCAD, <a href="/entry/201475">201475</a>), MCAD deficiency (<a href="/entry/201450">201450</a>), deficiency of the plasma-membrane carnitine transporter (<a href="/entry/212140">212140</a>), carnitine palmitoyltransferase I (CPT I) deficiency (<a href="/entry/255120">255120</a>), CPT II deficiency (<a href="/entry/255110">255110</a>), and SCAD deficiency (<a href="/entry/201470">201470</a>). Patients with these defects present with coma after a period of starvation and have hypoketosis, i.e., their serum ketone concentrations are low. They may also have cardiomyopathy and muscle weakness. <a href="#9" class="mim-tip-reference" title="Kelly, D. P., Strauss, A. W. <strong>Mechanisms of disease.</strong> New Eng. J. Med. 330: 913-919, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8114864/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8114864</a>] [<a href="https://doi.org/10.1056/NEJM199403313301308" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8114864">Kelly and Strauss (1994)</a> discussed the cardiomyopathies due to inborn errors of fatty acid oxidation and diagrammed the beta-oxidation pathway of fatty acids and specific defects causing cardiomyopathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8114864+1598097" 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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Al Aqeel, A. I., Rashed, M. S., Wanders, R. J. A.
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<strong>Carnitine-acylcarnitine translocase deficiency is a treatable disease.</strong>
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J. Inherit. Metab. Dis. 22: 271-275, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10384385/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10384385</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10384385" 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:1005546408659" target="_blank">Full Text</a>]
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Brivet, M., Slama, A., Millington, D. S., Roe, C. R., Demaugre, F., LeGrand, A., Boutron, A., Poggi, F., Saudubray, J. M.
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<strong>Retrospective diagnosis of carnitine/acylcarnitine translocase deficiency by acylcarnitine analysis in the proband Guthrie card and enzymatic studies in the parents.</strong>
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J. Inherit. Metab. Dis. 19: 181-184, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8739960/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8739960</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8739960" 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/BF01799424" target="_blank">Full Text</a>]
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Brivet, M., Slama, A., Ogier, H., Boutron, A., Demaugre, F., Saudubray, J., Lemonnier, A.
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<strong>Diagnosis of carnitine acylcarnitine translocase deficiency by complementation analysis.</strong>
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J. Inherit. Metab. Dis. 17: 271-274, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7807931/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7807931</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7807931" 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/BF00711805" target="_blank">Full Text</a>]
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Fukushima, T., Kaneoka, H., Yasuno, T., Sasaguri, Y., Tokuyasu, T., Tokoro, K., Fukao, T., Saito, T.
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<strong>Three novel mutations in the carnitine-acylcarnitine translocase (CACT) gene in patients with CACT deficiency and in healthy individuals.</strong>
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J. Hum. Genet. 58: 788-793, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24088670/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24088670</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24088670" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/jhg.2013.103" target="_blank">Full Text</a>]
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Guffon, N., Mochel, F., Schiff, M., De Lonlay, P., Douillard, C., Vianey-Saban, C.
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<strong>Clinical outcomes in a series of 18 patients with long chain fatty acids oxidation disorders treated with triheptanoin for a median duration of 22 months.</strong>
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Molec. Genet. Metab. 132: 227-233, 2021.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33610471/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33610471</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33610471" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ymgme.2021.02.003" target="_blank">Full Text</a>]
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Huizing, M., Iacobazzi, V., IJlst, L., Savelkoul, P., Ruitenbeek, W., van den Heuvel, L., Indiveri, C., Smeitink, J., Trijbels, F, Wanders, R., Palmieri, F.
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<strong>Cloning of the human carnitine-acylcarnitine carrier cDNA and identification of the molecular defect in a patient.</strong>
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Am. J. Hum. Genet. 61: 1239-1245, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9399886/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9399886</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9399886" 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/10.1086/301628" target="_blank">Full Text</a>]
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Iacobazzi, V., Invernizzi, F., Baratta, S., Pons, R., Chung, W., Garavaglia, B., Dionisi-Vici, C., Ribes, A., Parini, R., Huertas, M. D., Roldan, S., Lauria, G., Palmieri, F., Taroni, F.
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<strong>Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency.</strong>
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Hum. Mutat. 24: 312-320, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15365988/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15365988</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15365988" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/humu.20085" target="_blank">Full Text</a>]
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Iacobazzi, V., Pasquali, M., Singh, R., Matern, D., Rinaldo, P., di San Filippo, C. A., Palmieri, F., Longo, N.
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<strong>Response to therapy in carnitine/acylcarnitine translocase (CACT) deficiency due to a novel missense mutation.</strong>
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Am. J. Med. Genet. 126A: 150-155, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15057979/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15057979</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15057979" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.20573" target="_blank">Full Text</a>]
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Kelly, D. P., Strauss, A. W.
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<strong>Mechanisms of disease.</strong>
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New Eng. J. Med. 330: 913-919, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8114864/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8114864</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8114864" 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/NEJM199403313301308" target="_blank">Full Text</a>]
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Morris, A. A. M., Olpin, S. E., Brivet, M., Turnbull, D. M., Jones, R. A. K., Leonard, J. V.
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|
<strong>A patient with carnitine-acylcarnitine translocase deficiency with a mild phenotype.</strong>
|
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J. Pediat. 132: 514-516, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9544911/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9544911</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9544911" 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(98)70030-7" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="11" class="mim-anchor"></a>
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<a id="Niezen-Koning1995" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Niezen-Koning, K. E., van Spronsen, F. J., Ijlst, L., Wanders, R. J. A., Brivet, M., Duran, M., Reijngoud, D. J., Heymans, H. S. A., Smit, G. P. A.
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|
<strong>A patient with lethal cardiomyopathy and a carnitine-acylcarnitine translocase deficiency.</strong>
|
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J. Inherit. Metab. Dis. 18: 230-232, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7564255/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7564255</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7564255" 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/BF00711775" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="12" class="mim-anchor"></a>
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<a id="Olpin1997" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Olpin, S. E., Bonham, J. R., Downing, M., Manning, N. J., Pollitt, R. J., Sharrard, M. J., Tanner, M. S.
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<strong>Carnitine-acylcarnitine translocase deficiency--a mild phenotype.</strong>
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J. Inherit. Metab. Dis. 20: 714-715, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9323572/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9323572</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9323572" 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:1005343013873" target="_blank">Full Text</a>]
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<li>
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<a id="13" class="mim-anchor"></a>
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<a id="Pande1993" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Pande, S. V., Brivet, M., Slama, A., Demaugre, F., Aufrant, C., Saudubray, J.-M.
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<strong>Carnitine-acylcarnitine translocase deficiency with severe hypoglycemia and auriculoventricular block: translocase assay in permeabilized fibroblasts.</strong>
|
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J. Clin. Invest. 91: 1247-1252, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8450053/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8450053</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8450053" 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/JCI116288" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="14" class="mim-anchor"></a>
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<a id="Pande1994" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Pande, S. V., Murthy, M. S. R.
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<strong>Carnitine-acylcarnitine translocase deficiency: implications in human pathology.</strong>
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Biochim. Biophys. Acta 1226: 269-276, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8054358/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8054358</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8054358" 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/10.1016/0925-4439(94)90037-x" target="_blank">Full Text</a>]
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<li>
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<a id="15" class="mim-anchor"></a>
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<a id="Rubio-Gozalbo2004" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Rubio-Gozalbo, M. E., Bakker, J. A., Waterham, H. R., Wanders, R. J.
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<strong>Carnitine-acylcarnitine translocase deficiency, clinical, biochemical and genetic aspects.</strong>
|
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Molec. Aspects Med. 25: 521-532, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15363639/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15363639</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15363639" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.mam.2004.06.007" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="16" class="mim-anchor"></a>
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<a id="Stanley1992" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Stanley, C. A., Hale, D. E., Berry, G. T., Deleeuw, S., Boxer, J., Bonnefont, J.-P.
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<strong>A deficiency of carnitine-acylcarnitine translocase in the inner mitochondrial membrane.</strong>
|
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New Eng. J. Med. 327: 19-23, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1598097/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1598097</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1598097" 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/NEJM199207023270104" target="_blank">Full Text</a>]
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</p>
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</div>
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</ol>
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<br />
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<a id="contributors" class="mim-anchor"></a>
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Hilary J. Vernon - updated : 06/14/2021
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 3/4/2014<br>Carol A. Bocchini - updated : 1/19/2011<br>Victor A. McKusick - updated : 1/21/2005<br>Victor A. McKusick - updated : 12/9/2004<br>Victor A. McKusick - updated : 5/11/2004<br>Victor A. McKusick - updated : 8/20/2003<br>Victor A. McKusick - updated : 1/13/2000<br>Wilson H. Y. Lo - updated : 8/10/1999<br>Victor A. McKusick - updated : 7/16/1999<br>Victor A. McKusick - updated : 9/8/1998<br>Ada Hamosh - updated : 6/15/1998<br>Victor A. McKusick - updated : 4/24/1998<br>Victor A. McKusick - updated : 2/26/1998<br>Victor A. McKusick - updated : 2/16/1998<br>Jon B. Obray - updated : 7/10/1996
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</span>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 7/17/1992
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</span>
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</div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 12/14/2021
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 06/14/2021<br>carol : 08/06/2019<br>alopez : 04/08/2014<br>mcolton : 3/7/2014<br>ckniffin : 3/4/2014<br>carol : 4/24/2012<br>terry : 5/19/2011<br>carol : 5/3/2011<br>terry : 5/2/2011<br>terry : 1/20/2011<br>carol : 1/19/2011<br>terry : 9/9/2010<br>terry : 4/18/2005<br>alopez : 4/8/2005<br>terry : 1/21/2005<br>tkritzer : 1/5/2005<br>terry : 12/9/2004<br>tkritzer : 6/2/2004<br>terry : 5/11/2004<br>alopez : 3/17/2004<br>tkritzer : 8/27/2003<br>tkritzer : 8/25/2003<br>terry : 8/20/2003<br>carol : 3/8/2002<br>carol : 3/8/2002<br>terry : 3/8/2002<br>carol : 4/3/2001<br>mcapotos : 1/14/2000<br>mcapotos : 1/14/2000<br>terry : 1/13/2000<br>carol : 8/10/1999<br>jlewis : 7/30/1999<br>terry : 7/16/1999<br>carol : 9/23/1998<br>carol : 9/15/1998<br>terry : 9/8/1998<br>alopez : 6/15/1998<br>carol : 5/6/1998<br>terry : 4/24/1998<br>mark : 2/26/1998<br>mark : 2/26/1998<br>mark : 2/24/1998<br>terry : 2/16/1998<br>carol : 7/10/1996<br>mark : 9/13/1995<br>carol : 9/20/1994<br>mimadm : 3/11/1994<br>carol : 5/7/1993<br>carol : 8/10/1992<br>carol : 7/17/1992
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</span>
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</div>
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<h3>
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<span class="mim-font">
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<strong>#</strong> 212138
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</h3>
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<div>
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<h3>
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<span class="mim-font">
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CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY; CACTD
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</h3>
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</div>
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<div>
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<br />
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</p>
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<h4>
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<span class="mim-font">
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CACT DEFICIENCY
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</h4>
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<div>
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<br />
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<div>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 238003000;
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<strong>ORPHA:</strong> 159;
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<strong>DO:</strong> 0111585;
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</span>
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</p>
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<div>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>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 small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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3p21.31
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</span>
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</td>
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<td>
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<span class="mim-font">
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Carnitine-acylcarnitine translocase deficiency
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</span>
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</td>
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<td>
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<span class="mim-font">
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212138
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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<td>
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<span class="mim-font">
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SLC25A20
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</span>
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</td>
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<td>
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<span class="mim-font">
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613698
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because carnitine-acylcarnitine translocase deficiency (CACTD) is caused by homozygous or compound heterozygous mutation in the SLC25A20 (613698) gene on chromosome 3p21.</p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</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>Carnitine-acylcarnitine translocase deficiency is a rare autosomal recessive metabolic disorder of long-chain fatty acid oxidation. Metabolic consequences include hypoketotic hypoglycemia under fasting conditions, hyperammonemia, elevated creatine kinase and transaminases, dicarboxylic aciduria, very low free carnitine and abnormal acylcarnitine profile with marked elevation of the long-chain acylcarnitines. Clinical features include neurologic abnormalities, cardiomyopathy and arrhythmias, skeletal muscle damage, and liver dysfunction. Most patients become symptomatic in the neonatal period with a rapidly progressive deterioration and a high mortality rate. However, presentations at a later age with a milder phenotype have been reported (summary by Rubio-Gozalbo et al., 2004). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In a newborn male infant who developed seizures, apneic periods, and bradycardia at 36 hours of age, Stanley et al. (1992) discovered a deficiency of the carnitine-acylcarnitine translocase (CACT) that transfers fatty acylcarnitines into mitochondria in exchange for free carnitine. The attack was apparently provoked by fasting. He had recurrent premature ventricular contractions, ventricular tachycardia, and hypotension. Subsequently, fasting during intercurrent illnesses provoked several episodes of coma, which responded to intravenous administration of glucose. At 30 months of age, the child had generalized weakness of skeletal muscles. Electrocardiogram showed mild ventricular hypertrophy and echocardiogram showed reduced ejection fraction. He died at 37 months of age of increasing weakness, hepatomegaly, and reduced liver function. The parents were nonconsanguineous and healthy. An older brother had died at 4 days of age, 2 days after a sudden, unexplained cardiorespiratory arrest. Pande et al. (1993) described CACT deficiency with severe hypoketotic hypoglycemia, hyperammonemia, and auriculoventricular block in a male, with healthy first-cousin parents, who died at age 8 days. A total deficiency of CACT was found in fibroblasts by use of the carnitine acetylation assay. </p><p>Brivet et al. (1994) identified CACT deficiency in a patient with impaired long-chain fatty acid (LCFA) oxidation by complementation analysis in cultured fibroblasts. Restoration of release of tritiated water from labeled palmitate was used as a criterion for complementation. The 'case' consisted of premature dizygotic twins, both affected. On the second day of life, they both displayed neurologic deterioration associated with hyperammonemia without hypoglycemia. At 2 months, both displayed acute decompensation within the days following the introduction of a normal diet with nocturnal fast. The deterioration was associated with hypoglycemia, hyperammonemia, huge dicarboxylic aciduria, and hypocarnitinemia. From a clinical point of view, both children had intracardiac conduction defects, hepatomegaly, and liver insufficiency. Despite supportive care, they died within a few days. </p><p>Niezen-Koning et al. (1995) described an affected child who was the second born in a family in which the first child was probably affected, having died of cardiorespiratory insufficiency 24 hours postpartum. The patient presented at 36 hours postpartum with sudden cardiorespiratory insufficiency, extreme hypoglycemia (glucose not detectable), high potassium, and hyperammonemia. Treatment with carnitine and a low-fat diet supplemented with medium-chain triglycerides were instituted. The patient gradually developed microcephaly with progressive enlargement of the liver and heart. The patient died at 24 months of age. Autopsy demonstrated hypertrophic cardiomegaly and storage fat in liver and striated muscle fibers. The CACT activity in fibroblasts was very low. </p><p>Brivet et al. (1996) reported the sudden death of a 2-month-old boy, the fifth child of healthy, unrelated parents. The family history was highly suggestive of an LCFA oxidation defect: 2 sibs had died at 24 and 48 hours of life, respectively. Brivet et al. (1996) assessed the acylcarnitine profile in the blood spots of the fifth child's Guthrie card by tandem mass spectrometry 3 years after the baby's death and found accumulation of long-chain acylcarnitine species. The finding suggested a CACT or carnitine palmitoyltransferase (CPT) II deficiency (see 608836). CACT activity was determined in both lymphocytes and fibroblasts from the parents and the 2 healthy sibs. The results suggested a carrier status for a CACT deficiency. CPT II activity was normal in the parents and the 2 healthy sibs, confirming the diagnosis of a CACT deficiency. </p><p>Olpin et al. (1997) found 6 previous reports of CACT deficiency, all of them showing a severe phenotype with very low or undetectable enzyme activity and very low beta-oxidation flux. All of these patients had a fatal outcome, most of them in the neonatal period, although 1 child survived for 3 years with early medical intervention. On the other hand, Olpin et al. (1997) described the case of a 15-month-old Pakistani child, the offspring of first-cousin parents, who was admitted to hospital following a prolonged clonic convulsion. Plasma glucose was very low and his urine contained no ketones. His condition improved rapidly with intravenous glucose. He was placed on a high-carbohydrate, low-fat diet with frequent feeds and supplementary L-carnitine, with the recommendation that he should not fast for more than 6 hours. At the age of 2 years his growth and development were normal. His cardiac function, as measured by ultrasonography, had remained normal throughout. CACT activity was measured at 6% of controls and mean residual beta-oxidation activity in lymphocytes and fibroblasts was 16%. The residual enzyme activity presumably accounted for the mild phenotype. </p><p>Morris et al. (1998) reported carnitine-acylcarnitine translocase deficiency in a consanguineous Pakistani family. The fifth child died at 3 months of age. The sixth child died at 2 days of age. Autopsy of this child revealed steatosis of the myocardium, liver, and renal tubules. Urine organic acid analysis showed elevated lactate, dicarboxylic, and hydroxydicarboxylic acids with no ketones. The seventh child was electively admitted to the neonatal unit, breast fed every 3 hours, and given supplemental formula by nasogastric tube. At 3 years of age, the child was physically and developmentally normal with normal echocardiogram, but with mild abnormalities on electromyography of the deltoid. Enzyme assay showed approximately 5% CACT activity. The authors attributed the mild course to residual enzyme activity, but noted that the degree of neonatal lipolysis was another important determinant of the clinical outcome. </p><p>Fukushima et al. (2013) reported 2 unrelated Japanese infants who died of CACT deficiency. One presented at age 2 days with decreased respiratory function, repeated apnea, hypotonia, irritability, oliguria, hypoglycemia, liver dysfunction, and cryptogenic rhabdomyolysis. Plantar blood spots showed an abnormal acylcarnitine profile, consistent with CACT deficiency. The patient died of Reye-like symptoms at age 2 years, 9 months. The other child became cyanotic and flaccid and went into cardiac arrest on day 2 of life; he died the next day. Tandem mass spectrometry analysis of acylcarnitines in a postmortem blood spot card showed increases in C14, C16, and C18 acylcarnitines. </p><p><strong><em>Reviews</em></strong></p><p>
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Pande and Murthy (1994) and Rubio-Gozalbo et al. (2004) provided reviews of CACT deficiency. </p>
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</span>
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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>The occurrence of 2 presumably affected sibs in the family reported by Stanley et al. (1992) and the parental consanguinity in the case reported by Pande et al. (1993) support autosomal recessive inheritance. </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>Clinical Management</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>Al Aqeel et al. (1999) described what they thought to be the twelfth case of CACT deficiency and emphasized that the disorder is treatable. The patient had neonatal apneic attacks, nystagmus, and hyperammonemia. Treatment included peritoneal dialysis with a permanent Tenckof catheter in situ, enteral feeding with high calories, low protein, low long-chain fatty acids, medium-chain triglyceride oil, and frequent feedings. </p><p>Guffon et al. (2021) described clinical response to treatment with triheptanoin in 18 patients with disorders of long chain fatty acid oxidation, including 5 with VLCAD deficiency (201475), 5 with LCHAD deficiency (609016), 3 with CACT deficiency, 3 with CPT II deficiency (600649), and 2 with MTP deficiency (609015). Treatment duration was for an average of 22 months, with a range of 9 to 228 months. Ten of 12 pediatric patients and 4 of 6 adult patients reported reduction in fatigue and weakness. Eight of 12 pediatric patients and 3 of 6 adult patients experienced reduced intensity of myalgia. Episodes of rhabdomyolysis decreased in 8 of 12 pediatric patients and 3 of 6 adult patients. Of 3 patients who had severe hypoglycemic events in the year prior to starting triheptanoin, none had these events in the year following initiation of therapy. On average, emergency hospital care visits and days of emergency home care were also reduced. In this case series, all 3 patients with CACT deficiency who presented as neonates survived, with the oldest being 12 years of age at the time of report, which is in contrast to the severe mortality rate reported in a prior series of infants who received conventional dietary therapy. </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>Molecular Genetics</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>By direct sequencing of CACT cDNA from a CACT-deficient infant, Huizing et al. (1997) identified a homozygous cytosine nucleotide insertion (613698.0001). The insertion caused a frameshift and an extension of the open reading frame with 23 novel codons. </p><p>In a child with CACT deficiency who was the product of a consanguineous marriage, Iacobazzi et al. (2004) identified homozygosity for a gln238-to-arg mutation in the SLC25A20 gene (Q238R; 613698.0007). Both parents were heterozygous for the mutation. The patient presented shortly after birth with cardiac myopathy and arrhythmia coupled with severe nonketotic hypoglycemia. Therapy with a formula which provided most of the fat in the form of medium chain triglycerides as well as carnitine supplementation reduced the concentration of long chain acylcarnitines and reversed cardiac symptoms and hypoglycemia. </p><p>Iacobazzi et al. (2004) found significant clinical heterogeneity among 6 CACT-deficient patients from Italy, Spain, and North America. In 5 patients, the disease manifested in the neonatal period, whereas the remaining patient, the younger sib of an infant who had died with clinical suspicion of fatty acid oxidation defect, had been treated since birth and was clinically asymptomatic at 4.5 years of age. Sequence analysis of the SLC25A20 gene identified 5 novel mutations and 3 previously reported mutations. Combined analysis of clinical, biochemical, and molecular data failed to indicate a correlation between phenotype and genotype. </p><p>In 2 unrelated Japanese infants with CACTD, Fukushima et al. (2013) identified compound heterozygous mutations in the CACT gene (613698.0006, 613698.0008-613698.0009). </p>
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</span>
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<div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>History</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Mitochondrial oxidation of fatty acids provides the chief source of energy during prolonged fasting as well as for skeletal muscle during exercise and for cardiac muscle. Ten genetic defects in this pathway, diagrammed by Stanley et al. (1992), had been recognized in infants and children, including LCAD deficiency (see VLCAD, 201475), MCAD deficiency (201450), deficiency of the plasma-membrane carnitine transporter (212140), carnitine palmitoyltransferase I (CPT I) deficiency (255120), CPT II deficiency (255110), and SCAD deficiency (201470). Patients with these defects present with coma after a period of starvation and have hypoketosis, i.e., their serum ketone concentrations are low. They may also have cardiomyopathy and muscle weakness. Kelly and Strauss (1994) discussed the cardiomyopathies due to inborn errors of fatty acid oxidation and diagrammed the beta-oxidation pathway of fatty acids and specific defects causing cardiomyopathy. </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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Al Aqeel, A. I., Rashed, M. S., Wanders, R. J. A.
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<strong>Carnitine-acylcarnitine translocase deficiency is a treatable disease.</strong>
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J. Inherit. Metab. Dis. 22: 271-275, 1999.
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[PubMed: 10384385]
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[Full Text: https://doi.org/10.1023/a:1005546408659]
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</li>
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<p class="mim-text-font">
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Brivet, M., Slama, A., Millington, D. S., Roe, C. R., Demaugre, F., LeGrand, A., Boutron, A., Poggi, F., Saudubray, J. M.
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<strong>Retrospective diagnosis of carnitine/acylcarnitine translocase deficiency by acylcarnitine analysis in the proband Guthrie card and enzymatic studies in the parents.</strong>
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J. Inherit. Metab. Dis. 19: 181-184, 1996.
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[PubMed: 8739960]
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[Full Text: https://doi.org/10.1007/BF01799424]
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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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Brivet, M., Slama, A., Ogier, H., Boutron, A., Demaugre, F., Saudubray, J., Lemonnier, A.
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<strong>Diagnosis of carnitine acylcarnitine translocase deficiency by complementation analysis.</strong>
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J. Inherit. Metab. Dis. 17: 271-274, 1994.
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[PubMed: 7807931]
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[Full Text: https://doi.org/10.1007/BF00711805]
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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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Fukushima, T., Kaneoka, H., Yasuno, T., Sasaguri, Y., Tokuyasu, T., Tokoro, K., Fukao, T., Saito, T.
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<strong>Three novel mutations in the carnitine-acylcarnitine translocase (CACT) gene in patients with CACT deficiency and in healthy individuals.</strong>
|
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J. Hum. Genet. 58: 788-793, 2013.
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[PubMed: 24088670]
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[Full Text: https://doi.org/10.1038/jhg.2013.103]
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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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Guffon, N., Mochel, F., Schiff, M., De Lonlay, P., Douillard, C., Vianey-Saban, C.
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<strong>Clinical outcomes in a series of 18 patients with long chain fatty acids oxidation disorders treated with triheptanoin for a median duration of 22 months.</strong>
|
|
Molec. Genet. Metab. 132: 227-233, 2021.
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[PubMed: 33610471]
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[Full Text: https://doi.org/10.1016/j.ymgme.2021.02.003]
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</p>
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<li>
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<p class="mim-text-font">
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Huizing, M., Iacobazzi, V., IJlst, L., Savelkoul, P., Ruitenbeek, W., van den Heuvel, L., Indiveri, C., Smeitink, J., Trijbels, F, Wanders, R., Palmieri, F.
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<strong>Cloning of the human carnitine-acylcarnitine carrier cDNA and identification of the molecular defect in a patient.</strong>
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Am. J. Hum. Genet. 61: 1239-1245, 1997.
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[PubMed: 9399886]
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[Full Text: https://doi.org/10.1086/301628]
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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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Iacobazzi, V., Invernizzi, F., Baratta, S., Pons, R., Chung, W., Garavaglia, B., Dionisi-Vici, C., Ribes, A., Parini, R., Huertas, M. D., Roldan, S., Lauria, G., Palmieri, F., Taroni, F.
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<strong>Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency.</strong>
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Hum. Mutat. 24: 312-320, 2004.
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[PubMed: 15365988]
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[Full Text: https://doi.org/10.1002/humu.20085]
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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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Iacobazzi, V., Pasquali, M., Singh, R., Matern, D., Rinaldo, P., di San Filippo, C. A., Palmieri, F., Longo, N.
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<strong>Response to therapy in carnitine/acylcarnitine translocase (CACT) deficiency due to a novel missense mutation.</strong>
|
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Am. J. Med. Genet. 126A: 150-155, 2004.
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[PubMed: 15057979]
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[Full Text: https://doi.org/10.1002/ajmg.a.20573]
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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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Kelly, D. P., Strauss, A. W.
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<strong>Mechanisms of disease.</strong>
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New Eng. J. Med. 330: 913-919, 1994.
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[PubMed: 8114864]
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[Full Text: https://doi.org/10.1056/NEJM199403313301308]
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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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Morris, A. A. M., Olpin, S. E., Brivet, M., Turnbull, D. M., Jones, R. A. K., Leonard, J. V.
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<strong>A patient with carnitine-acylcarnitine translocase deficiency with a mild phenotype.</strong>
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J. Pediat. 132: 514-516, 1998.
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[PubMed: 9544911]
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[Full Text: https://doi.org/10.1016/s0022-3476(98)70030-7]
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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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Niezen-Koning, K. E., van Spronsen, F. J., Ijlst, L., Wanders, R. J. A., Brivet, M., Duran, M., Reijngoud, D. J., Heymans, H. S. A., Smit, G. P. A.
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<strong>A patient with lethal cardiomyopathy and a carnitine-acylcarnitine translocase deficiency.</strong>
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J. Inherit. Metab. Dis. 18: 230-232, 1995.
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[PubMed: 7564255]
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[Full Text: https://doi.org/10.1007/BF00711775]
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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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Olpin, S. E., Bonham, J. R., Downing, M., Manning, N. J., Pollitt, R. J., Sharrard, M. J., Tanner, M. S.
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<strong>Carnitine-acylcarnitine translocase deficiency--a mild phenotype.</strong>
|
|
J. Inherit. Metab. Dis. 20: 714-715, 1997.
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[PubMed: 9323572]
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[Full Text: https://doi.org/10.1023/a:1005343013873]
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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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Pande, S. V., Brivet, M., Slama, A., Demaugre, F., Aufrant, C., Saudubray, J.-M.
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<strong>Carnitine-acylcarnitine translocase deficiency with severe hypoglycemia and auriculoventricular block: translocase assay in permeabilized fibroblasts.</strong>
|
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J. Clin. Invest. 91: 1247-1252, 1993.
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[PubMed: 8450053]
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[Full Text: https://doi.org/10.1172/JCI116288]
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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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Pande, S. V., Murthy, M. S. R.
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<strong>Carnitine-acylcarnitine translocase deficiency: implications in human pathology.</strong>
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Biochim. Biophys. Acta 1226: 269-276, 1994.
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[PubMed: 8054358]
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[Full Text: https://doi.org/10.1016/0925-4439(94)90037-x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Rubio-Gozalbo, M. E., Bakker, J. A., Waterham, H. R., Wanders, R. J.
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<strong>Carnitine-acylcarnitine translocase deficiency, clinical, biochemical and genetic aspects.</strong>
|
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Molec. Aspects Med. 25: 521-532, 2004.
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[PubMed: 15363639]
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[Full Text: https://doi.org/10.1016/j.mam.2004.06.007]
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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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Stanley, C. A., Hale, D. E., Berry, G. T., Deleeuw, S., Boxer, J., Bonnefont, J.-P.
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<strong>A deficiency of carnitine-acylcarnitine translocase in the inner mitochondrial membrane.</strong>
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New Eng. J. Med. 327: 19-23, 1992.
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[PubMed: 1598097]
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[Full Text: https://doi.org/10.1056/NEJM199207023270104]
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</p>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<div class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Contributors:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Hilary J. Vernon - updated : 06/14/2021<br>Cassandra L. Kniffin - updated : 3/4/2014<br>Carol A. Bocchini - updated : 1/19/2011<br>Victor A. McKusick - updated : 1/21/2005<br>Victor A. McKusick - updated : 12/9/2004<br>Victor A. McKusick - updated : 5/11/2004<br>Victor A. McKusick - updated : 8/20/2003<br>Victor A. McKusick - updated : 1/13/2000<br>Wilson H. Y. Lo - updated : 8/10/1999<br>Victor A. McKusick - updated : 7/16/1999<br>Victor A. McKusick - updated : 9/8/1998<br>Ada Hamosh - updated : 6/15/1998<br>Victor A. McKusick - updated : 4/24/1998<br>Victor A. McKusick - updated : 2/26/1998<br>Victor A. McKusick - updated : 2/16/1998<br>Jon B. Obray - updated : 7/10/1996
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Victor A. McKusick : 7/17/1992
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