2529 lines
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Entry
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- #600649 - CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE
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- OMIM
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<span class="h4">#600649</span>
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<br />
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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/600649"><strong>Clinical Synopsis</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#clinicalManagement">Clinical Management</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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</h4>
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<div style="display: table-cell;">Clinical Resources</div>
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<div><a href="https://clinicaltrials.gov/search?cond=CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="#mimEuroGentestFold" id="mimEuroGentestToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A list of European laboratories that offer genetic testing."><span id="mimEuroGentestToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>EuroGentest</div>
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<div id="mimEuroGentestFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=901&Typ=Pat" title="Carnitine palmitoyltransferase II deficiency" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Carnitine palmitoyltransfe… </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=19100&Typ=Pat" title="Carnitine palmitoyl transferase II deficiency, severe infantile form" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Carnitine palmitoyl transf… </a></div>
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</div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1253/" 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/7904" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=600649[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="#mimOrphanetFold" id="mimOrphanetToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="European reference portal for information on rare diseases and orphan drugs."><span id="mimOrphanetToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Orphanet</div>
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<div id="mimOrphanetFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=157" title="Carnitine palmitoyltransferase II deficiency" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Carnitine palmitoyltransfe…</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=228305" title="Carnitine palmitoyl transferase II deficiency, severe infantile form" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Carnitine palmitoyl transf…</a></div>
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</div>
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<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/fb243690-8b51-4eef-b9f4-9a04626ed3b5/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></div>
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<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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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>ORPHA:</strong> 157, 228305<br />
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<strong>DO:</strong> 0060235<br />
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">ICD+</a>
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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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600649
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</span>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE
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</span>
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</h3>
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</div>
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<div>
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<br />
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<a id="alternativeTitles" class="mim-anchor"></a>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY WITH HYPOKETOTIC HYPOGLYCEMIA<br />
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CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, HEPATOCARDIOMUSCULAR<br />
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CPT II DEFICIENCY, HEPATIC<br />
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CPT2 DEFICIENCY, INFANTILE
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</h4>
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</div>
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</div>
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<div>
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<br />
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<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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<span class="mim-font">
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<a href="/geneMap/1/626?start=-3&limit=10&highlight=626">
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1p32.3
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</a>
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<td>
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<span class="mim-font">
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CPT II deficiency, infantile
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<td>
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<span class="mim-font">
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<a href="/entry/600649"> 600649 </a>
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</span>
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</td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
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CPT2
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<td>
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<span class="mim-font">
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<a href="/entry/600650"> 600650 </a>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/600649" 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')">
|
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<span class="caret"></span>
|
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<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
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</div>
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<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/600649" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/600649" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
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</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
|
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<p />
|
|
</div>
|
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|
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
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<div>
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<div>
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<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</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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|
|
- 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 />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> CARDIOVASCULAR </strong>
|
|
</span>
|
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</div>
|
|
<div style="margin-left: 2em;">
|
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<em> Heart </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Cardiomegaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/8186001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">8186001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I51.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I51.7</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/429.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">429.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018800&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018800</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001640" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001640</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001640" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001640</a>]</span><br /> -
|
|
Dilated cardiomyopathy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/399020009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">399020009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/195021004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">195021004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I42.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I42.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0007193&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0007193</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001644" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001644</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001644" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001644</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 arrest <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/87317003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">87317003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R09.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R09.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/799.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">799.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0162297&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0162297</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005943" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005943</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005943" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005943</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">
|
|
|
|
- Hepatomegaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/80515008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">80515008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R16.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R16.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/789.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">789.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0019209&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0019209</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002240" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002240</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002240" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002240</a>]</span><br /> -
|
|
Macrovesicular steatosis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837256&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837256</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001403" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001403</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001403" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001403</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
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|
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|
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Gastrointestinal </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Vomiting <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/422400008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">422400008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/300359004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">300359004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249497008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249497008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R11.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R11.1</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R11.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R11.10</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0042963&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0042963</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002013" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002013</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002013" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002013</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> NEUROLOGIC </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Central Nervous System </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Lethargy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/214264003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">214264003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R53.83" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R53.83</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0023380&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0023380</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001254" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001254</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001254" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001254</a>]</span><br /> -
|
|
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 />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
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|
|
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|
|
</div>
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|
|
</div>
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|
|
|
|
|
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|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> METABOLIC FEATURES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Hypoketotic hypoglycemia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856438&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856438</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001985" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001985</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001985" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001985</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> LABORATORY ABNORMALITIES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Decreased carnitine palmitoyltransferase II (CPT2) activity <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1833526&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1833526</a>]</span><br /> -
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Decreased levels of CPT2 protein <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1833527&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1833527</a>]</span><br /> -
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Decreased palmitate oxidation <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1833528&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1833528</a>]</span><br /> -
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Increased liver function tests <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/863927004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">863927004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0877359&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0877359</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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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 long-chain acylcarnitine <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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- Onset in infancy (3 months on) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1848924&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1848924</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003593" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003593</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003593" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003593</a>]</span><br /> -
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Precipitated by febrile illness and fasting<br /> -
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See also lethal neonatal (<a href="/entry/608836">608836</a>) and adult forms (<a href="/entry/255110">255110</a>)<br />
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- Caused by mutations in the carnitine palmitoyltransferase II gene (CPT2, <a href="/entry/600650#0001">600650.0001</a>)<br />
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<p>A number sign (#) is used with this entry because the infantile form of carnitine palmitoyltransferase II deficiency is caused by homozygous or compound heterozygous mutation in the CPT2 gene (<a href="/entry/600650">600650</a>) on chromosome 1p32.</p>
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<p>Carnitine palmitoyltransferase II deficiency is an inherited disorder of mitochondrial long-chain fatty acid oxidation. The infantile form usually presents between 6 and 24 months of age with recurrent attacks of hypoketotic hypoglycemia causing loss of consciousness and seizures, liver failure, and transient hepatomegaly. Some children also have heart involvement with cardiomyopathy and arrhythmia. Episodes are triggered by infections, fever, or fasting. Laboratory studies usually indicate hyperammonemia, metabolic acidosis, and hypoketotic hypoglycemia with elevated levels of creatine kinase (summary by <a href="#6" class="mim-tip-reference" title="Longo, N., Amat di San Filippo, C., Pasquali, M. <strong>Disorders of carnitine transport and the carnitine cycle.</strong> Am. J. Med. Genet. 142C: 77-85, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16602102/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16602102</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16602102[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/ajmg.c.30087" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16602102">Longo et al., 2006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16602102" 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>See also the lethal neonatal (<a href="/entry/608836">608836</a>) and adult-onset (<a href="/entry/255110">255110</a>) forms of the disorder, which are also caused by mutation in the CPT2 gene.</p>
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<p><a href="#2" class="mim-tip-reference" title="Demaugre, F., Bonnefont, J.-P., Colonna, M., Cepanec, C., Leroux, J.-P., Saudubray, J.-M. <strong>Infantile form of carnitine palmitoyltransferase II deficiency with hepatomuscular symptoms and sudden death: physiopathological approach to carnitine palmitoyltransferase II deficiencies.</strong> J. Clin. Invest. 87: 859-864, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1999498/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1999498</a>] [<a href="https://doi.org/10.1172/JCI115090" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1999498">Demaugre et al. (1991)</a> reported a male infant, born of first-cousin parents, who presented at 3 months of age with lethargy, respiratory arrest, and seizures following a febrile illness. He had mild hepatomegaly and cardiomegaly, as well as multiple cardiac arrhythmias. Laboratory analysis showed hypoketotic hypoglycemia, elevated liver enzymes, increased plasma creatine kinase, and low plasma carnitine. The patient's plasma ketones rose after medium-chain triglyceride loading, but did not increase after long-chain triglyceride loading, indicating impaired oxidation of long-chain fatty acids in the liver. CPT II activity was 10% of normal in the patient's fibroblasts, and approximately 50% of normal in lymphocytes of the parents and 1 unaffected sib. Protein analysis showed decreased levels of a normal-sized CPT II protein in the patient's fibroblasts. The child died suddenly after an overnight fast at the age of 17 months. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1999498" 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="Taroni, F., Verderio, E., Fiorucci, S., Cavadini, P., Finocchiaro, G., Uziel, G., Lamantea, E., Gellera, C., DiDonato, S. <strong>Molecular characterization of inherited carnitine palmitoyltransferase II deficiency.</strong> Proc. Nat. Acad. Sci. 89: 8429-8433, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1528846/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1528846</a>] [<a href="https://doi.org/10.1073/pnas.89.18.8429" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1528846">Taroni et al. (1992)</a> reported a 5-year-old boy, born of first cousin parents, who had recurrent episodes of vomiting, sweating, and lethargy from infancy. At age 23 months, he had an acute episode of seizures, coma, and respiratory distress, which ultimately led to severe brain damage. Physical examination showed hepatomegaly and mild dilated cardiomyopathy. After fasting, he developed hypoketotic hypoglycemia. Laboratory analysis showed that CPT II activity was reduced to 16.4%, 8.8%, and 6.6% of normal controls in the patient's fibroblasts, lymphoblasts, and skeletal muscle, respectively. Fibroblast CPT II activity was reduced by 40% and 35% in the father and mother, respectively. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1528846" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Yamamoto, S., Abe, H., Kohgo, T., Ogawa, A., Ohtake, A., Hayashibe, H., Sakuraba, H., Suzuki, Y., Aramaki, S., Takayanagi, M., Hasegawa, S., Niimi, H. <strong>Two novel gene mutations (glu174-to-lys, phe383-to-tyr) causing the 'hepatic' form of carnitine palmitoyltransferase II deficiency.</strong> Hum. Genet. 98: 116-118, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8682496/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8682496</a>] [<a href="https://doi.org/10.1007/s004390050170" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8682496">Yamamoto et al. (1996)</a> reported a previously healthy Japanese infant who became lethargic at the age of 9 months after a 2-day febrile illness. She had hypoketotic hypoglycemia, metabolic acidosis, hyperammonemia, elevated liver enzymes, and hepatomegaly with macrovesicular steatosis. Palmitate oxidation and CPT II activity in lymphoblasts were 46% and 3% of normal control rates, respectively. Her younger brother had a similar illness and laboratory results. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8682496" 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="Isackson, P. J., Bennett, M. J., Lichter-Konecki, U., Willis, M., Nyhan, W. L., Sutton, V. R., Tein, I., Vladutiu, G. D. <strong>CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency.</strong> Molec. Genet. Metab. 94: 422-427, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18550408/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18550408</a>] [<a href="https://doi.org/10.1016/j.ymgme.2008.05.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18550408">Isackson et al. (2008)</a> reported a patient with infantile CPT II deficiency who presented at age 15 months following a febrile episode with hypoglycemic encephalopathy and hepatomegaly. He had elevated liver function tests and fatty infiltration of the liver. Echocardiogram showed ventricular hypertrophy with normal function. He had complete neurologic recovery and did well with proper treatment, although he had a few episodes of myolysis when stressed. CPT2 activity was 2.5% of control values. Genetic analysis revealed a homozygous mutation in the CPT2 gene (Y120C; <a href="/entry/600650#0017">600650.0017</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18550408" 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>Clinical Variability</em></strong></p><p>
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<a href="#4" class="mim-tip-reference" title="Illsinger, S., Lucke, T., Peter, M., Ruiter, J. P. N., Wanders, R. J. A., Deschauer, M., Handig, I., Wuyts, W., Das, A. M. <strong>Carnitine-palmitoyltransferase 2 deficiency: novel mutations and relevance of newborn screening.</strong> Am. J. Med. Genet. 146A: 2925-2928, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18925671/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18925671</a>] [<a href="https://doi.org/10.1002/ajmg.a.32545" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18925671">Illsinger et al. (2008)</a> reported an infant with CPT2 deficiency identified by newborn screening of a dried blood spot; acylcarnitines were increased. However, acylcarnitine profile in blood taken on day 9 was normal with breast milk feeding, and there was no dicarboxylic aciduria. CPT2 activity was decreased to 25% in fibroblasts, and overall oxidation of the long-chain fatty acids was reduced to 10% of control values. The patient was found to be compound heterozygous for 2 mutations in the CPT2 gene. At age 2.5 years, he had no clinical symptoms associated with the marked impairment of long-chain fatty acid oxidation. <a href="#4" class="mim-tip-reference" title="Illsinger, S., Lucke, T., Peter, M., Ruiter, J. P. N., Wanders, R. J. A., Deschauer, M., Handig, I., Wuyts, W., Das, A. M. <strong>Carnitine-palmitoyltransferase 2 deficiency: novel mutations and relevance of newborn screening.</strong> Am. J. Med. Genet. 146A: 2925-2928, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18925671/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18925671</a>] [<a href="https://doi.org/10.1002/ajmg.a.32545" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18925671">Illsinger et al. (2008)</a> noted that the phenotype of CPT2 deficiency can range from normal to early death in infancy, but concluded that all patients with abnormal neonatal screening should be followed for possible decompensation under certain circumstances. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18925671" 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="#3" 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 (<a href="/entry/212138">212138</a>), 3 with CPT II deficiency, 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. <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>In a patient with infantile CPT II deficiency, <a href="#7" class="mim-tip-reference" title="Taroni, F., Verderio, E., Fiorucci, S., Cavadini, P., Finocchiaro, G., Uziel, G., Lamantea, E., Gellera, C., DiDonato, S. <strong>Molecular characterization of inherited carnitine palmitoyltransferase II deficiency.</strong> Proc. Nat. Acad. Sci. 89: 8429-8433, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1528846/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1528846</a>] [<a href="https://doi.org/10.1073/pnas.89.18.8429" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1528846">Taroni et al. (1992)</a> identified a homozygous mutation in the CPT2 gene (<a href="/entry/600650#0001">600650.0001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1528846" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In the patient with infantile CPT II deficiency reported by <a href="#2" class="mim-tip-reference" title="Demaugre, F., Bonnefont, J.-P., Colonna, M., Cepanec, C., Leroux, J.-P., Saudubray, J.-M. <strong>Infantile form of carnitine palmitoyltransferase II deficiency with hepatomuscular symptoms and sudden death: physiopathological approach to carnitine palmitoyltransferase II deficiencies.</strong> J. Clin. Invest. 87: 859-864, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1999498/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1999498</a>] [<a href="https://doi.org/10.1172/JCI115090" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1999498">Demaugre et al. (1991)</a>, <a href="#1" class="mim-tip-reference" title="Bonnefont, J.-P., Taroni, F., Cavadini, P., Cepanec, C., Brivet, M., Saudubray, J.-M., Leroux, J.-P., Demaugre, F. <strong>Molecular analysis of carnitine palmitoyltransferase II deficiency with hepatocardiomuscular expression.</strong> Am. J. Hum. Genet. 58: 971-978, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8651281/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8651281</a>]" pmid="8651281">Bonnefont et al. (1996)</a> identified a homozygous mutation in the CPT2 gene (<a href="/entry/600650#0005">600650.0005</a>). In 2 Japanese sibs with infantile CPT II deficiency, <a href="#9" class="mim-tip-reference" title="Yamamoto, S., Abe, H., Kohgo, T., Ogawa, A., Ohtake, A., Hayashibe, H., Sakuraba, H., Suzuki, Y., Aramaki, S., Takayanagi, M., Hasegawa, S., Niimi, H. <strong>Two novel gene mutations (glu174-to-lys, phe383-to-tyr) causing the 'hepatic' form of carnitine palmitoyltransferase II deficiency.</strong> Hum. Genet. 98: 116-118, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8682496/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8682496</a>] [<a href="https://doi.org/10.1007/s004390050170" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8682496">Yamamoto et al. (1996)</a> identified compound heterozygosity for 2 mutations in the CPT2 gene (<a href="/entry/600650#0006">600650.0006</a>; <a href="/entry/600650#0007">600650.0007</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1999498+8651281+8682496" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="Vladutiu, G. D., Quackenbush, E. J., Hainline, B. E., Albers, S., Smail, D. S., Bennett, M. J. <strong>Lethal neonatal and severe late infantile forms of carnitine palmitoyltransferase II deficiency associated with compound heterozygosity for different protein truncation mutations.</strong> J. Pediat. 141: 734-736, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12410208/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12410208</a>] [<a href="https://doi.org/10.1067/mpd.2002.128545" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12410208">Vladutiu et al. (2002)</a> reported an 11-month-old male infant of mixed heritage presenting with episodic hypoglycemia who was compound heterozygous for 2 mutations in the CPT2 gene (<a href="/entry/600650#0003">600650.0003</a>; <a href="/entry/600650#0009">600650.0009</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12410208" 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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Bonnefont, J.-P., Taroni, F., Cavadini, P., Cepanec, C., Brivet, M., Saudubray, J.-M., Leroux, J.-P., Demaugre, F.
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<strong>Molecular analysis of carnitine palmitoyltransferase II deficiency with hepatocardiomuscular expression.</strong>
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Am. J. Hum. Genet. 58: 971-978, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8651281/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8651281</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8651281" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Demaugre, F., Bonnefont, J.-P., Colonna, M., Cepanec, C., Leroux, J.-P., Saudubray, J.-M.
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<strong>Infantile form of carnitine palmitoyltransferase II deficiency with hepatomuscular symptoms and sudden death: physiopathological approach to carnitine palmitoyltransferase II deficiencies.</strong>
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J. Clin. Invest. 87: 859-864, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1999498/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1999498</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1999498" 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/JCI115090" 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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Illsinger, S., Lucke, T., Peter, M., Ruiter, J. P. N., Wanders, R. J. A., Deschauer, M., Handig, I., Wuyts, W., Das, A. M.
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<strong>Carnitine-palmitoyltransferase 2 deficiency: novel mutations and relevance of newborn screening.</strong>
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Am. J. Med. Genet. 146A: 2925-2928, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18925671/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18925671</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18925671" 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.32545" target="_blank">Full Text</a>]
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Isackson, P. J., Bennett, M. J., Lichter-Konecki, U., Willis, M., Nyhan, W. L., Sutton, V. R., Tein, I., Vladutiu, G. D.
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<strong>CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency.</strong>
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Molec. Genet. Metab. 94: 422-427, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18550408/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18550408</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18550408" 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.2008.05.002" target="_blank">Full Text</a>]
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Longo, N., Amat di San Filippo, C., Pasquali, M.
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<strong>Disorders of carnitine transport and the carnitine cycle.</strong>
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Am. J. Med. Genet. 142C: 77-85, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16602102/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16602102</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16602102[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16602102" 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.c.30087" target="_blank">Full Text</a>]
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Taroni, F., Verderio, E., Fiorucci, S., Cavadini, P., Finocchiaro, G., Uziel, G., Lamantea, E., Gellera, C., DiDonato, S.
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<strong>Molecular characterization of inherited carnitine palmitoyltransferase II deficiency.</strong>
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Proc. Nat. Acad. Sci. 89: 8429-8433, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1528846/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1528846</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1528846" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Vladutiu, G. D., Quackenbush, E. J., Hainline, B. E., Albers, S., Smail, D. S., Bennett, M. J.
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<strong>Lethal neonatal and severe late infantile forms of carnitine palmitoyltransferase II deficiency associated with compound heterozygosity for different protein truncation mutations.</strong>
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J. Pediat. 141: 734-736, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12410208/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12410208</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12410208" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Yamamoto, S., Abe, H., Kohgo, T., Ogawa, A., Ohtake, A., Hayashibe, H., Sakuraba, H., Suzuki, Y., Aramaki, S., Takayanagi, M., Hasegawa, S., Niimi, H.
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<strong>Two novel gene mutations (glu174-to-lys, phe383-to-tyr) causing the 'hepatic' form of carnitine palmitoyltransferase II deficiency.</strong>
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Hum. Genet. 98: 116-118, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8682496/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8682496</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8682496" 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/s004390050170" target="_blank">Full Text</a>]
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Hilary J. Vernon - updated : 06/14/2021
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Carol A. Bocchini - updated : 12/29/2016<br>Cassandra L. Kniffin - updated : 4/9/2009<br>Cassandra L. Kniffin - updated : 3/3/2009<br>Cassandra L. Kniffin - reorganized : 8/23/2004<br>Cassandra L. Kniffin - updated : 8/19/2004<br>Natalie E. Krasikov - updated : 8/10/2004<br>Sonja A. Rasmussen - updated : 8/24/2001<br>Orest Hurko - updated : 9/28/1995
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<span class="mim-text-font">
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Victor A. McKusick : 7/13/1995
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alopez : 06/21/2022
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carol : 06/14/2021<br>carol : 12/29/2016<br>terry : 03/22/2012<br>wwang : 4/20/2009<br>ckniffin : 4/9/2009<br>wwang : 3/10/2009<br>ckniffin : 3/3/2009<br>ckniffin : 5/9/2005<br>carol : 8/23/2004<br>ckniffin : 8/19/2004<br>terry : 8/10/2004<br>carol : 8/31/2001<br>mcapotos : 8/24/2001<br>alopez : 4/17/2001<br>joanna : 5/8/1998<br>jamie : 5/9/1997<br>mimadm : 11/3/1995<br>mark : 9/28/1995<br>mark : 7/13/1995
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<strong>#</strong> 600649
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CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE
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CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY WITH HYPOKETOTIC HYPOGLYCEMIA<br />
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CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, HEPATOCARDIOMUSCULAR<br />
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CPT II DEFICIENCY, HEPATIC<br />
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CPT2 DEFICIENCY, INFANTILE
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<strong>ORPHA:</strong> 157, 228305;
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<strong>DO:</strong> 0060235;
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<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<span class="mim-font">
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1p32.3
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<span class="mim-font">
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CPT II deficiency, infantile
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<span class="mim-font">
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600649
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Autosomal recessive
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<span class="mim-font">
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3
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CPT2
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<span class="mim-font">
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600650
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<strong>TEXT</strong>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because the infantile form of carnitine palmitoyltransferase II deficiency is caused by homozygous or compound heterozygous mutation in the CPT2 gene (600650) on chromosome 1p32.</p>
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<strong>Description</strong>
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<p>Carnitine palmitoyltransferase II deficiency is an inherited disorder of mitochondrial long-chain fatty acid oxidation. The infantile form usually presents between 6 and 24 months of age with recurrent attacks of hypoketotic hypoglycemia causing loss of consciousness and seizures, liver failure, and transient hepatomegaly. Some children also have heart involvement with cardiomyopathy and arrhythmia. Episodes are triggered by infections, fever, or fasting. Laboratory studies usually indicate hyperammonemia, metabolic acidosis, and hypoketotic hypoglycemia with elevated levels of creatine kinase (summary by Longo et al., 2006). </p><p>See also the lethal neonatal (608836) and adult-onset (255110) forms of the disorder, which are also caused by mutation in the CPT2 gene.</p>
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<strong>Clinical Features</strong>
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<p>Demaugre et al. (1991) reported a male infant, born of first-cousin parents, who presented at 3 months of age with lethargy, respiratory arrest, and seizures following a febrile illness. He had mild hepatomegaly and cardiomegaly, as well as multiple cardiac arrhythmias. Laboratory analysis showed hypoketotic hypoglycemia, elevated liver enzymes, increased plasma creatine kinase, and low plasma carnitine. The patient's plasma ketones rose after medium-chain triglyceride loading, but did not increase after long-chain triglyceride loading, indicating impaired oxidation of long-chain fatty acids in the liver. CPT II activity was 10% of normal in the patient's fibroblasts, and approximately 50% of normal in lymphocytes of the parents and 1 unaffected sib. Protein analysis showed decreased levels of a normal-sized CPT II protein in the patient's fibroblasts. The child died suddenly after an overnight fast at the age of 17 months. </p><p>Taroni et al. (1992) reported a 5-year-old boy, born of first cousin parents, who had recurrent episodes of vomiting, sweating, and lethargy from infancy. At age 23 months, he had an acute episode of seizures, coma, and respiratory distress, which ultimately led to severe brain damage. Physical examination showed hepatomegaly and mild dilated cardiomyopathy. After fasting, he developed hypoketotic hypoglycemia. Laboratory analysis showed that CPT II activity was reduced to 16.4%, 8.8%, and 6.6% of normal controls in the patient's fibroblasts, lymphoblasts, and skeletal muscle, respectively. Fibroblast CPT II activity was reduced by 40% and 35% in the father and mother, respectively. </p><p>Yamamoto et al. (1996) reported a previously healthy Japanese infant who became lethargic at the age of 9 months after a 2-day febrile illness. She had hypoketotic hypoglycemia, metabolic acidosis, hyperammonemia, elevated liver enzymes, and hepatomegaly with macrovesicular steatosis. Palmitate oxidation and CPT II activity in lymphoblasts were 46% and 3% of normal control rates, respectively. Her younger brother had a similar illness and laboratory results. </p><p>Isackson et al. (2008) reported a patient with infantile CPT II deficiency who presented at age 15 months following a febrile episode with hypoglycemic encephalopathy and hepatomegaly. He had elevated liver function tests and fatty infiltration of the liver. Echocardiogram showed ventricular hypertrophy with normal function. He had complete neurologic recovery and did well with proper treatment, although he had a few episodes of myolysis when stressed. CPT2 activity was 2.5% of control values. Genetic analysis revealed a homozygous mutation in the CPT2 gene (Y120C; 600650.0017). </p><p><strong><em>Clinical Variability</em></strong></p><p>
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Illsinger et al. (2008) reported an infant with CPT2 deficiency identified by newborn screening of a dried blood spot; acylcarnitines were increased. However, acylcarnitine profile in blood taken on day 9 was normal with breast milk feeding, and there was no dicarboxylic aciduria. CPT2 activity was decreased to 25% in fibroblasts, and overall oxidation of the long-chain fatty acids was reduced to 10% of control values. The patient was found to be compound heterozygous for 2 mutations in the CPT2 gene. At age 2.5 years, he had no clinical symptoms associated with the marked impairment of long-chain fatty acid oxidation. Illsinger et al. (2008) noted that the phenotype of CPT2 deficiency can range from normal to early death in infancy, but concluded that all patients with abnormal neonatal screening should be followed for possible decompensation under certain circumstances. </p>
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<h4>
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<span class="mim-font">
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<strong>Clinical Management</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>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 (212138), 3 with CPT II deficiency, 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. </p>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In a patient with infantile CPT II deficiency, Taroni et al. (1992) identified a homozygous mutation in the CPT2 gene (600650.0001). </p><p>In the patient with infantile CPT II deficiency reported by Demaugre et al. (1991), Bonnefont et al. (1996) identified a homozygous mutation in the CPT2 gene (600650.0005). In 2 Japanese sibs with infantile CPT II deficiency, Yamamoto et al. (1996) identified compound heterozygosity for 2 mutations in the CPT2 gene (600650.0006; 600650.0007). </p><p>Vladutiu et al. (2002) reported an 11-month-old male infant of mixed heritage presenting with episodic hypoglycemia who was compound heterozygous for 2 mutations in the CPT2 gene (600650.0003; 600650.0009). </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Bonnefont, J.-P., Taroni, F., Cavadini, P., Cepanec, C., Brivet, M., Saudubray, J.-M., Leroux, J.-P., Demaugre, F.
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<strong>Molecular analysis of carnitine palmitoyltransferase II deficiency with hepatocardiomuscular expression.</strong>
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Am. J. Hum. Genet. 58: 971-978, 1996.
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[PubMed: 8651281]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Demaugre, F., Bonnefont, J.-P., Colonna, M., Cepanec, C., Leroux, J.-P., Saudubray, J.-M.
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<strong>Infantile form of carnitine palmitoyltransferase II deficiency with hepatomuscular symptoms and sudden death: physiopathological approach to carnitine palmitoyltransferase II deficiencies.</strong>
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J. Clin. Invest. 87: 859-864, 1991.
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[PubMed: 1999498]
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[Full Text: https://doi.org/10.1172/JCI115090]
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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>
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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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<li>
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<p class="mim-text-font">
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Illsinger, S., Lucke, T., Peter, M., Ruiter, J. P. N., Wanders, R. J. A., Deschauer, M., Handig, I., Wuyts, W., Das, A. M.
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<strong>Carnitine-palmitoyltransferase 2 deficiency: novel mutations and relevance of newborn screening.</strong>
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Am. J. Med. Genet. 146A: 2925-2928, 2008.
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[PubMed: 18925671]
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[Full Text: https://doi.org/10.1002/ajmg.a.32545]
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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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Isackson, P. J., Bennett, M. J., Lichter-Konecki, U., Willis, M., Nyhan, W. L., Sutton, V. R., Tein, I., Vladutiu, G. D.
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<strong>CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency.</strong>
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Molec. Genet. Metab. 94: 422-427, 2008.
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[PubMed: 18550408]
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[Full Text: https://doi.org/10.1016/j.ymgme.2008.05.002]
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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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Longo, N., Amat di San Filippo, C., Pasquali, M.
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<strong>Disorders of carnitine transport and the carnitine cycle.</strong>
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Am. J. Med. Genet. 142C: 77-85, 2006.
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[PubMed: 16602102]
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[Full Text: https://doi.org/10.1002/ajmg.c.30087]
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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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Taroni, F., Verderio, E., Fiorucci, S., Cavadini, P., Finocchiaro, G., Uziel, G., Lamantea, E., Gellera, C., DiDonato, S.
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<strong>Molecular characterization of inherited carnitine palmitoyltransferase II deficiency.</strong>
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Proc. Nat. Acad. Sci. 89: 8429-8433, 1992.
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[PubMed: 1528846]
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[Full Text: https://doi.org/10.1073/pnas.89.18.8429]
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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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Vladutiu, G. D., Quackenbush, E. J., Hainline, B. E., Albers, S., Smail, D. S., Bennett, M. J.
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<strong>Lethal neonatal and severe late infantile forms of carnitine palmitoyltransferase II deficiency associated with compound heterozygosity for different protein truncation mutations.</strong>
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J. Pediat. 141: 734-736, 2002.
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[PubMed: 12410208]
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[Full Text: https://doi.org/10.1067/mpd.2002.128545]
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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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Yamamoto, S., Abe, H., Kohgo, T., Ogawa, A., Ohtake, A., Hayashibe, H., Sakuraba, H., Suzuki, Y., Aramaki, S., Takayanagi, M., Hasegawa, S., Niimi, H.
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<strong>Two novel gene mutations (glu174-to-lys, phe383-to-tyr) causing the 'hepatic' form of carnitine palmitoyltransferase II deficiency.</strong>
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Hum. Genet. 98: 116-118, 1996.
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[PubMed: 8682496]
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[Full Text: https://doi.org/10.1007/s004390050170]
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Hilary J. Vernon - updated : 06/14/2021<br>Carol A. Bocchini - updated : 12/29/2016<br>Cassandra L. Kniffin - updated : 4/9/2009<br>Cassandra L. Kniffin - updated : 3/3/2009<br>Cassandra L. Kniffin - reorganized : 8/23/2004<br>Cassandra L. Kniffin - updated : 8/19/2004<br>Natalie E. Krasikov - updated : 8/10/2004<br>Sonja A. Rasmussen - updated : 8/24/2001<br>Orest Hurko - updated : 9/28/1995
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Victor A. McKusick : 7/13/1995
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