3336 lines
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Entry
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- #609015 - MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY 1; MTPD1
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- OMIM
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<p>
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<span class="h4">#609015</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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<li role="presentation">
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<a href="/clinicalSynopsis/609015"><strong>Clinical Synopsis</strong></a>
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<li role="presentation">
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<a href="/phenotypicSeries/PS609015"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#clinicalManagement">Clinical Management</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<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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<div style="display: table-cell;">Clinical Resources</div>
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<div><a href="https://clinicaltrials.gov/search?cond=MITOCHONDRIAL TRIFUNCTIONAL PROTEIN 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=3294&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/NBK583531/" 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/4834" 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/mitochondrial-trifunctional-protein-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=609015[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/LCHADD-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-OH-C18-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=746" 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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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-cell;">Animal Models</div>
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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:0070619" 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/609015" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://omia.org/OMIA002480/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:0070619" 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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<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 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:609015" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<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>SNOMEDCT:</strong> 237999008<br />
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<strong>ORPHA:</strong> 746<br />
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<strong>DO:</strong> 0070619<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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609015
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</span>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY 1; MTPD1
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<div>
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<br />
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<em>Alternative titles; symbols</em>
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<div>
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<h4>
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<span class="mim-font">
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MTPD<br />
|
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TRIFUNCTIONAL PROTEIN DEFICIENCY
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</span>
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</h4>
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</div>
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</div>
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<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="includedTitles" class="mim-anchor"></a>
|
|
<div>
|
|
<p>
|
|
<span class="mim-font">
|
|
Other entities represented in this entry:
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<span class="h3 mim-font">
|
|
MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY 1 WITH MYOPATHY AND NEUROPATHY, INCLUDED
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
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|
|
</div>
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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/2/103?start=-3&limit=10&highlight=103">
|
|
2p23.3
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Mitochondrial trifunctional protein deficiency 1
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609015"> 609015 </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">
|
|
HADHA
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600890"> 600890 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/609015" 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">
|
|
|
|
<a href="/phenotypicSeries/PS609015" class="btn btn-info" role="button"> Phenotypic Series </a>
|
|
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', '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/609015" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/609015" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
|
|
|
|
|
|
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GROWTH </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Other </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Small for gestational age <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/267258002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">267258002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0235991&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0235991</a>, <a href="https://bioportal.bioontology.org/search?q=C0302511&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0302511</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001518" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001518</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001518" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001518</a>]</span><br /> -
|
|
Failure to thrive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/432788009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">432788009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/54840006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">54840006</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/783.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">783.41</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0015544&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0015544</a>, <a href="https://bioportal.bioontology.org/search?q=C2315100&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2315100</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001508</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001508</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Eyes </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Pigmentary retinopathy (rare) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/28835009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">28835009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H35.52" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H35.52</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4551715&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551715</a>, <a href="https://bioportal.bioontology.org/search?q=C0035334&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0035334</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000510</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0000580" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000580</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000580" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000580</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> CARDIOVASCULAR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Heart </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Low-output cardiomyopathy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2675274&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2675274</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 /> -
|
|
Cardiac failure <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/84114007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">84114007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/42343007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">42343007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I50" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I50</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/I50.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I50.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/428.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">428.0</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/428" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">428</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/428.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">428.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018802&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018802</a>, <a href="https://bioportal.bioontology.org/search?q=C0018801&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018801</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001635" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001635</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001635" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001635</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 failure <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>]</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> 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>]</span> <span class="mim-feature-ids hidden">[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>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
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|
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|
|
|
|
|
</div>
|
|
|
|
</div>
|
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|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> ABDOMEN </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
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|
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<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>
|
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|
|
</div>
|
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</div>
|
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MUSCLE, SOFT TISSUES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<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 /> -
|
|
Generalized weakness <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/13791008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">13791008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M62.81" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M62.81</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R53.81" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R53.81</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R53.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R53.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/799.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">799.3</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/728.87" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">728.87</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0746674&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0746674</a>, <a href="https://bioportal.bioontology.org/search?q=C3714552&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3714552</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003324" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003324</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003324" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003324</a>]</span><br /> -
|
|
Limb-girdle myopathy, slowly progressive <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4315123&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4315123</a>]</span><br /> -
|
|
Muscle pain <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/68962001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">68962001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M79.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M79.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0231528&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0231528</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003326" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003326</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003326" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003326</a>]</span><br /> -
|
|
Rhabdomyolysis, episodic <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2675271&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2675271</a>]</span> <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">[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">
|
|
|
|
- Poor spontaneous movements <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2675268&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2675268</a>]</span><br /> -
|
|
Delayed psychomotor development <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/224958001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">224958001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F88" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F88</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0557874&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0557874</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001263" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001263</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001263" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001263</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Peripheral Nervous System </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Sensorimotor axonopathy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2675269&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2675269</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> METABOLIC FEATURES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Lactic acidosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/91273001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">91273001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E87.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E87.20</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0001125&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0001125</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003128" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003128</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003128" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003128</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> ENDOCRINE FEATURES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Hypoparathyroidism (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/36976004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">36976004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E20</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/E20.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E20.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/252.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">252.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020626&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020626</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000829" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000829</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000829" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000829</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> PRENATAL MANIFESTATIONS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Hydrops fetalis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/276508000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">276508000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/P83.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">P83.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020305&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020305</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001789" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001789</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001789" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001789</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Maternal </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- HELLP syndrome (hemolysis, elevated liver enzymes, low platelets) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95605009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95605009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/O14.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">O14.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0162739&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0162739</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> LABORATORY ABNORMALITIES </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Hypoketotic hypoglycemia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856438&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856438</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001985" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001985</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001985" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001985</a>]</span><br /> -
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Decreased activity of long-chain 3-hydroxyacyl-CoA dehydrogenase, long-chain 3-oxoacyl-CoA thiolase, and long-chain 2-enoyl-CoA hydratase <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2675272&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2675272</a>]</span><br /> -
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Increased serum acylcarnitines <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2675273&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2675273</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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Myoglobinuria <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/48165008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">48165008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R82.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R82.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/791.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">791.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0027080&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0027080</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002913" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002913</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002913" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002913</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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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> MISCELLANEOUS </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Three major clinical forms are apparent<br /> -
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Rapidly progressive neonatal onset with early death<br /> -
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Infantile onset with hepatic involvement<br /> -
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Childhood or adolescent onset, protracted, with myopathy and neuropathy<br /> -
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Sudden infant death may occur <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/160957000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">160957000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/51178009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">51178009</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/798.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">798.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0038644&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0038644</a>, <a href="https://bioportal.bioontology.org/search?q=C0425045&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0425045</a>]</span><br /> -
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Symptoms may be aggravated by acute illness<br /> -
|
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Most patients die from heart failure<br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> MOLECULAR BASIS </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Caused by mutation in the alpha subunit of the hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (HADHA, <a href="/entry/600890#0003">600890.0003</a>)<br />
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</span>
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</div>
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</div>
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</div>
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<div class="text-right">
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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</div>
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</div>
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</div>
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<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
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<div class="small">
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<div class="row">
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<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
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<h5>
|
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Mitochondrial trifunctional protein deficiency
|
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- <a href="/phenotypicSeries/PS609015">PS609015</a>
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- 2 Entries
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</h5>
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</div>
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</div>
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<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
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<table class="table table-bordered table-condensed table-hover mim-table-padding">
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<thead>
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<tr>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Location</strong>
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</th>
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<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
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<strong>Phenotype</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Inheritance</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Phenotype<br />mapping key</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Phenotype<br />MIM number</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Gene/Locus</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Gene/Locus<br />MIM number</strong>
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/2/103?start=-3&limit=10&highlight=103"> 2p23.3 </a>
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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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<a href="/entry/609015"> Mitochondrial trifunctional protein deficiency 1 </a>
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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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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
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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>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/609015"> 609015 </a>
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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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<a href="/entry/600890"> HADHA </a>
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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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<a href="/entry/600890"> 600890 </a>
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/2/104?start=-3&limit=10&highlight=104"> 2p23.3 </a>
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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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<a href="/entry/620300"> Mitochondrial trifunctional protein deficiency 2 </a>
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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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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
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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>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/620300"> 620300 </a>
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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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<a href="/entry/143450"> HADHB </a>
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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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<a href="/entry/143450"> 143450 </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>
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<div class="text-right small">
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<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">▲ Close</a>
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</div>
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</div>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</span>
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</span>
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</h4>
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<div id="mimTextFold" class="collapse in ">
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that mitochondrial trifunctional protein deficiency-1 (MTPD1) is caused by homozygous or compound heterozygous mutation in the HADHA gene (<a href="/entry/600890">600890</a>), the alpha subunit of the mitochondrial trifunctional protein.</p><p>See also isolated LCHAD deficiency (<a href="/entry/609016">609016</a>), which is caused by mutation in the HADHA gene.</p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="description" class="mim-anchor"></a>
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<div id="mimDescriptionFold" class="collapse in ">
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<span class="mim-text-font">
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<p>The mitochondrial trifunctional protein, composed of 4 alpha and 4 beta subunits, catalyzes 3 steps in mitochondrial beta-oxidation of fatty acids: long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD), long-chain enoyl-CoA hydratase, and long-chain thiolase activities. Trifunctional protein deficiency is characterized by decreased activity of all 3 enzymes. Clinically, classic trifunctional protein deficiency can be classified into 3 main clinical phenotypes: neonatal onset of a severe, lethal condition resulting in sudden unexplained infant death (SIDS; <a href="/entry/272120">272120</a>), infantile onset of a hepatic Reye-like syndrome, and late-adolescent onset of primarily a skeletal myopathy (<a href="#14" class="mim-tip-reference" title="Spiekerkoetter, U., Sun, B., Khuchua, Z., Bennett, M. J., Strauss, A. W. <strong>Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to beta-subunit mutations.</strong> Hum. Mutat. 21: 598-607, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12754706/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12754706</a>] [<a href="https://doi.org/10.1002/humu.10211" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12754706">Spiekerkoetter et al., 2003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12754706" 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>Some patients with MTP deficiency show a protracted progressive course associated with myopathy, recurrent rhabdomyolysis, and sensorimotor axonal neuropathy. These patients tend to survive into adolescence and adulthood (<a href="#4" class="mim-tip-reference" title="den Boer, M. E. J., Dionisi-Vici, C., Chakrapani, A., van Thuijl, A. O. J., Wanders, R. J. A., Wijburg, F. A. <strong>Mitochondrial trifunctional protein deficiency: a severe fatty acid oxidation disorder with cardiac and neurologic involvement.</strong> J. Pediat. 142: 684-689, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12838198/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12838198</a>] [<a href="https://doi.org/10.1067/mpd.2003.231" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12838198">den Boer et al., 2003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12838198" 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>Genetic Heterogeneity of Mitochondrial Trifunctional Protein Deficiency</em></strong></p><p>
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See also MTPD2 (<a href="/entry/620300">620300</a>), caused by mutation in the HADHB gene, the beta subunit of the mitochondrial trifunctional protein.</p>
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<p><a href="#15" class="mim-tip-reference" title="Wanders, R. J. A., IJlst, L., Poggi, F., Bonnefont, J. P., Munnich, A., Brivet, M., Rabier, D., Saudubray, J. M. <strong>Human trifunctional protein deficiency: a new disorder of mitochondrial fatty acid beta-oxidation.</strong> Biochem. Biophys. Res. Commun. 188: 1139-1145, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1445348/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1445348</a>] [<a href="https://doi.org/10.1016/0006-291x(92)91350-y" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1445348">Wanders et al. (1992)</a> reported an infant, born of first-cousin parents, who presented with hypoglycemia and major hypotonia at 2 days of age. The infant developed respiratory failure and showed poor spontaneous motility and absence of suckling and archaic reflexes on day 8, had acute cardiac failure on day 28 related to a hypokinetic cardiomyopathy with distended wall, and died on day 30. Studies of fibroblasts from the patient demonstrated deficiency of all 3 activities of trifunctional protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1445348" 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="Jackson, S., Kler, R. S., Bartlett, K., Briggs, H., Bindoff, L. A., Pourfarzam, M., Gardner-Medwin, D., Turnbull, D. M. <strong>Combined enzyme defect of mitochondrial fatty acid oxidation.</strong> J. Clin. Invest. 90: 1219-1225, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1401059/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1401059</a>] [<a href="https://doi.org/10.1172/JCI115983" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1401059">Jackson et al. (1992)</a> reported a young girl who presented with recurrent episodes of muscle weakness culminating in a severe attack of generalized muscle weakness. Muscle mitochondria from the patient demonstrated an abnormal pattern of intermediates of beta-oxidation with an accumulation of 3-hydroxyacyl- and 2-enoyl-CoA and carnitine esters, and 3-oxoacylcarnitines. The patient was shown to have a combined defect of long-chain 3-hydroxyacyl-CoA dehydrogenase, long-chain 3-oxoacyl-CoA thiolase, and long-chain 2-enoyl-CoA hydratase. In fibroblasts from both parents, intermediate levels of enzyme activity were found. The proband died at age 4.5 years after a brief illness. An earlier-born brother had died at the age of 2.5 years, probably of the same disorder. He showed terminally low-output cardiac failure with an enlarged dilated heart and generalized weakness. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1401059" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Dionisi-Vici, C., Garavaglia, B., Burlina, A. B., Bertini, E., Saponara, I., Sabetta, G., Taroni, F. <strong>Hypoparathyroidism in mitochondrial trifunctional protein deficiency.</strong> J. Pediat. 129: 159-162, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8757579/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8757579</a>] [<a href="https://doi.org/10.1016/s0022-3476(96)70206-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8757579">Dionisi-Vici et al. (1996)</a> described the clinical course of a girl diagnosed at the age of 15 months with a history of recurrent vomiting at birth. The patient presented with severe hypotonia, respiratory failure requiring assisted ventilation, and severe dilated cardiomyopathy. Urine organic acids were strongly suggestive of a fatty acid oxidation defect by characteristic excretion of 3-hydroxydicarboxylic acid; additional laboratory findings were consistent with hypoparathyroidism. Fibroblast analysis showed that all 3 MTP enzyme activities were affected, albeit to different degrees. In follow-up, additional episodes of metabolic decompensation were induced by intercurrent febrile illnesses. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8757579" 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="den Boer, M. E. J., Dionisi-Vici, C., Chakrapani, A., van Thuijl, A. O. J., Wanders, R. J. A., Wijburg, F. A. <strong>Mitochondrial trifunctional protein deficiency: a severe fatty acid oxidation disorder with cardiac and neurologic involvement.</strong> J. Pediat. 142: 684-689, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12838198/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12838198</a>] [<a href="https://doi.org/10.1067/mpd.2003.231" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12838198">Den Boer et al. (2003)</a> found that 9 (42%) of 21 patients with MTP deficiency presented with rapidly progressive clinical deterioration. Eight of these patients died of cardiac complications within 8 weeks; the ninth patient died of liver failure within 4 weeks. Six of the 9 had hypoketotic hypoglycemia. Other clinical features of the rapidly progressive group included hypotonia, lethargy, liver disease, and peripheral neuropathy. One of 7 tested had pigmentary retinopathy. Two patients who were diagnosed prenatally died despite treatment; 1 of these patients had hydrops fetalis. Two (11%) of 19 pregnancies on which information was available were complicated by HELLP syndrome (hemolysis, elevated liver enzymes, and low platelets). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12838198" 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="Dagher, R., Massie, R., Gentil, B. J. <strong>MTP deficiency caused by HADHB mutations: pathophysiology and clinical manifestations.</strong> Molec. Genet. Metab. 133: 1-7, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33744096/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33744096</a>] [<a href="https://doi.org/10.1016/j.ymgme.2021.03.010" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33744096">Dagher et al. (2021)</a> reviewed the clinical features of MTP deficiency and described 3 phenotypic groups: an early-onset cardiomyopathy associated with early death, an intermediate form with recurrent hypoketotic hypoglycemia, and a sensorimotor neuropathy with episodic rhabdomyolysis and hypoparathyroidism. The severity of disease presentation was found to be correlated with the degree of MTP enzyme deficiency. Dilated cardiomyopathy, which had the potential to develop across the life span, was the most common cardiomyopathy observed. However, the most severe form of cardiomyopathy was a rapidly progressing neonatal cardiomyopathy presenting around 3 months of age. Rhabdomyolysis in MTP deficiency was typically caused by prolonged activity, cold exposure, or infection. Peripheral neuropathy resembled axonal Charcot Marie Tooth disease (CMT2; see <a href="/entry/118210">118210</a>) and could present without any other MTP deficiency symptoms. Early-onset liver disease was also reported in severe MTP enzyme deficiency, and was often diagnosed after patients presented with hypoketotic hypoglycemia. <a href="#3" class="mim-tip-reference" title="Dagher, R., Massie, R., Gentil, B. J. <strong>MTP deficiency caused by HADHB mutations: pathophysiology and clinical manifestations.</strong> Molec. Genet. Metab. 133: 1-7, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33744096/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33744096</a>] [<a href="https://doi.org/10.1016/j.ymgme.2021.03.010" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33744096">Dagher et al. (2021)</a> noted that the hypoketotic hypoglycemia resulted from the inability to maintain substrates for ketogenesis via fatty acid oxidation and a lack of available ATP for gluconeogenesis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33744096" 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>MTP Deficiency 1 with Myopathy and Neuropathy</em></strong></p><p>
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<a href="#5" class="mim-tip-reference" title="Dionisi Vici, C., Burlina, A. B., Bertini, E., Bachmann, C., Mazziotta, M. R. M., Zacchello, F., Sabetta, G., Hale, D. E. <strong>Progressive neuropathy and recurrent myoglobinuria in a child with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency.</strong> J. Pediat. 118: 744-746, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2019931/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2019931</a>] [<a href="https://doi.org/10.1016/s0022-3476(05)80039-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2019931">Dionisi Vici et al. (1991)</a> described slowly progressive neuropathy and recurrent myoglobinuria in a boy whose sister had died at the age of 3 years, presumably of the same disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2019931" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#13" class="mim-tip-reference" title="Schaefer, J., Jackson, S., Dick, D. J., Turnbull, D. M. <strong>Trifunctional enzyme deficiency: adult presentation of a usually fatal beta-oxidation defect.</strong> Ann. Neurol. 40: 597-602, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8871579/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8871579</a>] [<a href="https://doi.org/10.1002/ana.410400409" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8871579">Schaefer et al. (1996)</a> reported 3 adults from a family with symptoms of recurrent exercise-induced rhabdomyolysis associated with peripheral neuropathy. Investigation of fatty acid oxidation in the patients revealed a deficiency of the mitochondrial trifunctional enzyme of beta-oxidation. The patients appeared to represent a novel phenotype of MTP deficiency characterized by recurrent rhabdomyolysis and peripheral neuropathy, but without involvement of other organs. This phenotype was associated with prolonged survival beyond the fourth decade. A low-fat/high-carbohydrate diet proved beneficial in one of the patients, drastically reducing the frequency of rhabdomyolytic episodes. <a href="#13" class="mim-tip-reference" title="Schaefer, J., Jackson, S., Dick, D. J., Turnbull, D. M. <strong>Trifunctional enzyme deficiency: adult presentation of a usually fatal beta-oxidation defect.</strong> Ann. Neurol. 40: 597-602, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8871579/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8871579</a>] [<a href="https://doi.org/10.1002/ana.410400409" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8871579">Schaefer et al. (1996)</a> noted that MTP deficiency should be considered in patients with recurrent episodes of myoglobinuria and peripheral neuropathy presenting in later life. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8871579" 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="den Boer, M. E. J., Dionisi-Vici, C., Chakrapani, A., van Thuijl, A. O. J., Wanders, R. J. A., Wijburg, F. A. <strong>Mitochondrial trifunctional protein deficiency: a severe fatty acid oxidation disorder with cardiac and neurologic involvement.</strong> J. Pediat. 142: 684-689, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12838198/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12838198</a>] [<a href="https://doi.org/10.1067/mpd.2003.231" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12838198">Den Boer et al. (2003)</a> found that 12 (57%) of 21 patients with MTP deficiency presented with a slow, insidious disease characterized by hypotonia, muscle cramps, decreased tendon reflexes, and peripheral neuropathy. Other features included cardiomyopathy, liver disease, and feeding difficulties with failure to thrive. Seven of these patients died: 5 from progressive cardiomyopathy, 1 from severe infection and metabolic derangement, and 1 suddenly almost 14 years after onset. The 5 surviving patients were in relatively good clinical condition without cardiomyopathy. Three had developmental delay. Some had episodic rhabdomyolysis and/or myoglobinuria. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12838198" 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="Liewluck, T., Mundi, M. S., Mauermann, M. L. <strong>Mitochondrial trifunctional protein deficiency: a rare cause of adult-onset rhabdomyolysis.</strong> Muscle Nerve 48: 989-991, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23868323/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23868323</a>] [<a href="https://doi.org/10.1002/mus.23959" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23868323">Liewluck et al. (2013)</a> reported a man who presented in his late forties with exercise-induced rhabdomyolysis and was found to have features of a mild sensorimotor axonal peripheral neuropathy affecting the lower limbs. Laboratory studies showed an abnormal acylcarnitine profile, suggesting a defect in HADHA activity, although patient cells were not available for study. Genetic analysis revealed compound heterozygous mutations in the HADHA gene (<a href="/entry/600890#0001">600890.0001</a> and <a href="/entry/600890#0004">600890.0004</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23868323" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#16" class="mim-tip-reference" title="Yang, J., Yuan, D., Tan, X., Zeng, Y., Tang, N., Chen, D., Tan, J., Cai, R., Huang, J., Yan, T. <strong>Analysis of a family with mitochondrial trifunctional protein deficiency caused by HADHA gene mutations.</strong> Molec. Med. Rep. 25: 47, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/34878152/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">34878152</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=34878152[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/10.3892/mmr.2021.12563" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="34878152">Yang et al. (2022)</a> reported 2 Chinese sibs with MTPD who died at 3 years of age and 7 months of age in the setting of illness with fever and diarrhea. The younger sib had an autopsy which showed diffuse hepatocyte steatosis and cardiomyocyte steatosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=34878152" 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>Although the mortality rate among children with deficiency of LCHAD or complete deficiency of the trifunctional protein had been reported to be 75 to 90%, <a href="#8" class="mim-tip-reference" title="Ibdah, J. A., Bennett, M. J., Rinaldo, P., Zhao, Y., Gibson, B., Sims, H. F., Strauss, A. W. <strong>A fetal fatty-acid oxidation disorder as a cause of liver disease in pregnant women.</strong> New Eng. J. Med. 340: 1723-1731, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10352164/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10352164</a>] [<a href="https://doi.org/10.1056/NEJM199906033402204" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10352164">Ibdah et al. (1999)</a> found that 67% of the affected children in their study were alive and receiving dietary treatment at the most recent follow-up, and most were able to attend school. Dietary treatment of children with fatty acid oxidation disorders dramatically reduced morbidity and mortality. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10352164" 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="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. 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 MTP deficiency, <a href="#1" class="mim-tip-reference" title="Brackett, J. C., Sims, H. F., Rinaldo, P., Shapiro, S., Powell, C. K., Bennett, M. J., Strauss, A. W. <strong>Two alpha subunit donor splice site mutations cause human trifunctional protein deficiency.</strong> J. Clin. Invest. 95: 2076-2082, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7738175/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7738175</a>] [<a href="https://doi.org/10.1172/JCI117894" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7738175">Brackett et al. (1995)</a> identified compound heterozygosity for 2 mutations in the HADHA gene (<a href="/entry/600890#0003">600890.0003</a> and <a href="/entry/600890#0004">600890.0004</a>). The patient presented in the neonatal period with hypoglycemia and cardiomyopathy and later died unexpectedly at the age of 18 months. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7738175" 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 Chinese sibs with MTPD, <a href="#16" class="mim-tip-reference" title="Yang, J., Yuan, D., Tan, X., Zeng, Y., Tang, N., Chen, D., Tan, J., Cai, R., Huang, J., Yan, T. <strong>Analysis of a family with mitochondrial trifunctional protein deficiency caused by HADHA gene mutations.</strong> Molec. Med. Rep. 25: 47, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/34878152/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">34878152</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=34878152[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/10.3892/mmr.2021.12563" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="34878152">Yang et al. (2022)</a> identified compound heterozygous mutations in the HADHA gene (R235W, <a href="/entry/600890#0011">600890.0011</a>; G703R, <a href="/entry/600890#0012">600890.0012</a>). The mutations, which were identified by whole-exome sequencing and confirmed by Sanger sequencing, segregated with disease in the family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=34878152" 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 2 unrelated patients with slowly progressive neuropathy and recurrent myoglobinuria, <a href="#9" class="mim-tip-reference" title="Ibdah, J. A., Tein, I., Dionisi-Vici, C., Bennett, M. J., IJlst, L., Gibson, B., Wanders, R. J. A., Strauss, A. W. <strong>Mild trifunctional protein deficiency is associated with progressive neuropathy and myopathy and suggests a novel genotype-phenotype correlation.</strong> J. Clin. Invest. 102: 1193-1199, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9739053/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9739053</a>] [<a href="https://doi.org/10.1172/JCI2091" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9739053">Ibdah et al. (1998)</a> confirmed MTP deficiency and identified biallelic mutations in exon 9 of the HADHA gene (<a href="/entry/600890#0008">600890.0008</a>-<a href="/entry/600890#0010">600890.0010</a>). One of the patients had been reported by <a href="#5" class="mim-tip-reference" title="Dionisi Vici, C., Burlina, A. B., Bertini, E., Bachmann, C., Mazziotta, M. R. M., Zacchello, F., Sabetta, G., Hale, D. E. <strong>Progressive neuropathy and recurrent myoglobinuria in a child with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency.</strong> J. Pediat. 118: 744-746, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2019931/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2019931</a>] [<a href="https://doi.org/10.1016/s0022-3476(05)80039-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2019931">Dionisi Vici et al. (1991)</a>; both patients survived into their early teens. <a href="#9" class="mim-tip-reference" title="Ibdah, J. A., Tein, I., Dionisi-Vici, C., Bennett, M. J., IJlst, L., Gibson, B., Wanders, R. J. A., Strauss, A. W. <strong>Mild trifunctional protein deficiency is associated with progressive neuropathy and myopathy and suggests a novel genotype-phenotype correlation.</strong> J. Clin. Invest. 102: 1193-1199, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9739053/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9739053</a>] [<a href="https://doi.org/10.1172/JCI2091" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9739053">Ibdah et al. (1998)</a> suggested that the relatively milder phenotype in these patients may be correlated with mutations in exon 9 of the HADHA gene, which encodes a linker domain between 2 regions of enzyme activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2019931+9739053" 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="Ibdah, J. A., Bennett, M. J., Rinaldo, P., Zhao, Y., Gibson, B., Sims, H. F., Strauss, A. W. <strong>A fetal fatty-acid oxidation disorder as a cause of liver disease in pregnant women.</strong> New Eng. J. Med. 340: 1723-1731, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10352164/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10352164</a>] [<a href="https://doi.org/10.1056/NEJM199906033402204" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10352164">Ibdah et al. (1999)</a> reported 5 children with complete MTP deficiency who presented with neonatal dilated cardiomyopathy or progressive neuromyopathy. None had the common HADHA mutation (E474Q; <a href="/entry/600890#0001">600890.0001</a>) often seen in isolated LCHAD deficiency, and none of their mothers had liver disease during pregnancy. Similarly, <a href="#2" class="mim-tip-reference" title="Chakrapani, A., Olpin, S., Cleary, M., Walter, J. H., Wraith, J. E., Besley, G. T. N. <strong>Trifunctional protein deficiency: three families with significant maternal hepatic dysfunction in pregnancy not associated with E474Q mutation.</strong> J. Inherit. Metab. Dis. 23: 826-834, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11196108/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11196108</a>] [<a href="https://doi.org/10.1023/a:1026712719416" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11196108">Chakrapani et al. (2000)</a> reported 5 families with trifunctional protein deficiency in which 3 mothers experienced significant hepatic disease while carrying an affected fetus. Diagnoses were based on increased levels of long-chain hydroxyacylcarnitines and deficiencies of 3-hydroxyacyl-CoA dehydrogenase and 3-ketoacyl-CoA thiolase activity in fibroblasts. None of these affected infants had the E474Q mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11196108+10352164" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#Miyajima1997" class="mim-tip-reference" title="Miyajima, H., Orii, K. E., Shindo, Y., Hashimoto, T., Shinka, T., Kuhara, T., Matsumoto, I., Shimizu, H., Kaneko, E. <strong>Mitochondrial trifunctional protein deficiency associated with recurrent myoglobinuria in adolescence.</strong> Neurology 49: 833-837, 1997.">Miyajima et al. (1997)</a>
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Brackett, J. C., Sims, H. F., Rinaldo, P., Shapiro, S., Powell, C. K., Bennett, M. J., Strauss, A. W.
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<strong>Two alpha subunit donor splice site mutations cause human trifunctional protein deficiency.</strong>
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J. Clin. Invest. 95: 2076-2082, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7738175/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7738175</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7738175" 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/JCI117894" target="_blank">Full Text</a>]
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Chakrapani, A., Olpin, S., Cleary, M., Walter, J. H., Wraith, J. E., Besley, G. T. N.
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<strong>Trifunctional protein deficiency: three families with significant maternal hepatic dysfunction in pregnancy not associated with E474Q mutation.</strong>
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J. Inherit. Metab. Dis. 23: 826-834, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11196108/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11196108</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11196108" 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:1026712719416" target="_blank">Full Text</a>]
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Dagher, R., Massie, R., Gentil, B. J.
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<strong>MTP deficiency caused by HADHB mutations: pathophysiology and clinical manifestations.</strong>
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Molec. Genet. Metab. 133: 1-7, 2021.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33744096/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33744096</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33744096" 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.2021.03.010" target="_blank">Full Text</a>]
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den Boer, M. E. J., Dionisi-Vici, C., Chakrapani, A., van Thuijl, A. O. J., Wanders, R. J. A., Wijburg, F. A.
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<strong>Mitochondrial trifunctional protein deficiency: a severe fatty acid oxidation disorder with cardiac and neurologic involvement.</strong>
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J. Pediat. 142: 684-689, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12838198/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12838198</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12838198" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1067/mpd.2003.231" target="_blank">Full Text</a>]
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Dionisi Vici, C., Burlina, A. B., Bertini, E., Bachmann, C., Mazziotta, M. R. M., Zacchello, F., Sabetta, G., Hale, D. E.
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<strong>Progressive neuropathy and recurrent myoglobinuria in a child with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency.</strong>
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J. Pediat. 118: 744-746, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2019931/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2019931</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2019931" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0022-3476(05)80039-3" target="_blank">Full Text</a>]
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Dionisi-Vici, C., Garavaglia, B., Burlina, A. B., Bertini, E., Saponara, I., Sabetta, G., Taroni, F.
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<strong>Hypoparathyroidism in mitochondrial trifunctional protein deficiency.</strong>
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J. Pediat. 129: 159-162, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8757579/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8757579</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8757579" 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(96)70206-8" 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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Ibdah, J. A., Bennett, M. J., Rinaldo, P., Zhao, Y., Gibson, B., Sims, H. F., Strauss, A. W.
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<strong>A fetal fatty-acid oxidation disorder as a cause of liver disease in pregnant women.</strong>
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New Eng. J. Med. 340: 1723-1731, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10352164/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10352164</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10352164" 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/NEJM199906033402204" target="_blank">Full Text</a>]
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Ibdah, J. A., Tein, I., Dionisi-Vici, C., Bennett, M. J., IJlst, L., Gibson, B., Wanders, R. J. A., Strauss, A. W.
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<strong>Mild trifunctional protein deficiency is associated with progressive neuropathy and myopathy and suggests a novel genotype-phenotype correlation.</strong>
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J. Clin. Invest. 102: 1193-1199, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9739053/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9739053</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9739053" 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/JCI2091" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="10" class="mim-anchor"></a>
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<a id="Jackson1992" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Jackson, S., Kler, R. S., Bartlett, K., Briggs, H., Bindoff, L. A., Pourfarzam, M., Gardner-Medwin, D., Turnbull, D. M.
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<strong>Combined enzyme defect of mitochondrial fatty acid oxidation.</strong>
|
|
J. Clin. Invest. 90: 1219-1225, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1401059/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1401059</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1401059" 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/JCI115983" target="_blank">Full Text</a>]
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<a id="11" class="mim-anchor"></a>
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<a id="Liewluck2013" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Liewluck, T., Mundi, M. S., Mauermann, M. L.
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<strong>Mitochondrial trifunctional protein deficiency: a rare cause of adult-onset rhabdomyolysis.</strong>
|
|
Muscle Nerve 48: 989-991, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23868323/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23868323</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23868323" 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/mus.23959" target="_blank">Full Text</a>]
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<a id="12" class="mim-anchor"></a>
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<a id="Miyajima1997" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Miyajima, H., Orii, K. E., Shindo, Y., Hashimoto, T., Shinka, T., Kuhara, T., Matsumoto, I., Shimizu, H., Kaneko, E.
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|
<strong>Mitochondrial trifunctional protein deficiency associated with recurrent myoglobinuria in adolescence.</strong>
|
|
Neurology 49: 833-837, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9305349/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9305349</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9305349" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1212/wnl.49.3.833" 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="Schaefer1996" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Schaefer, J., Jackson, S., Dick, D. J., Turnbull, D. M.
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<strong>Trifunctional enzyme deficiency: adult presentation of a usually fatal beta-oxidation defect.</strong>
|
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Ann. Neurol. 40: 597-602, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8871579/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8871579</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8871579" 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/ana.410400409" target="_blank">Full Text</a>]
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<li>
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<a id="14" class="mim-anchor"></a>
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<a id="Spiekerkoetter2003" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Spiekerkoetter, U., Sun, B., Khuchua, Z., Bennett, M. J., Strauss, A. W.
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<strong>Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to beta-subunit mutations.</strong>
|
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Hum. Mutat. 21: 598-607, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12754706/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12754706</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12754706" 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.10211" target="_blank">Full Text</a>]
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<a id="15" class="mim-anchor"></a>
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<a id="Wanders1992" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wanders, R. J. A., IJlst, L., Poggi, F., Bonnefont, J. P., Munnich, A., Brivet, M., Rabier, D., Saudubray, J. M.
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<strong>Human trifunctional protein deficiency: a new disorder of mitochondrial fatty acid beta-oxidation.</strong>
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Biochem. Biophys. Res. Commun. 188: 1139-1145, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1445348/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1445348</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1445348" 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/10.1016/0006-291x(92)91350-y" target="_blank">Full Text</a>]
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<a id="16" class="mim-anchor"></a>
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<a id="Yang2022" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Yang, J., Yuan, D., Tan, X., Zeng, Y., Tang, N., Chen, D., Tan, J., Cai, R., Huang, J., Yan, T.
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<strong>Analysis of a family with mitochondrial trifunctional protein deficiency caused by HADHA gene mutations.</strong>
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Molec. Med. Rep. 25: 47, 2022.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/34878152/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">34878152</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=34878152[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=34878152" 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/10.3892/mmr.2021.12563" target="_blank">Full Text</a>]
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<a id="contributors" class="mim-anchor"></a>
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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 : 03/14/2023
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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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Hilary J. Vernon - updated : 06/14/2021<br>Hilary J. Vernon - updated : 05/13/2021<br>Cassandra L. Kniffin - updated : 08/15/2016<br>Cassandra L. Kniffin - updated : 5/13/2015<br>Cassandra L. Kniffin - updated : 7/20/2010<br>Cassandra L. Kniffin - updated : 12/13/2007<br>Cassandra L. Kniffin - updated : 12/12/2007<br>Carol A. Bocchini - updated : 11/12/2004
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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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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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Ada Hamosh : 11/8/2004
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </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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carol : 04/10/2023
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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 : 04/03/2023<br>carol : 03/27/2023<br>carol : 03/14/2023<br>carol : 09/06/2022<br>carol : 03/11/2022<br>carol : 06/14/2021<br>carol : 05/17/2021<br>carol : 05/14/2021<br>carol : 05/13/2021<br>carol : 08/16/2016<br>ckniffin : 08/15/2016<br>alopez : 05/18/2015<br>mcolton : 5/13/2015<br>ckniffin : 5/13/2015<br>wwang : 7/27/2010<br>ckniffin : 7/20/2010<br>ckniffin : 7/20/2010<br>carol : 12/14/2007<br>ckniffin : 12/13/2007<br>ckniffin : 12/12/2007<br>carol : 7/14/2005<br>carol : 11/12/2004<br>carol : 11/10/2004<br>carol : 11/10/2004
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</span>
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<h3>
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<span class="mim-font">
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<strong>#</strong> 609015
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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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MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY 1; MTPD1
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</h3>
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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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<h4>
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<span class="mim-font">
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MTPD<br />
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TRIFUNCTIONAL PROTEIN DEFICIENCY
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<span class="mim-font">
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Other entities represented in this entry:
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</span>
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</p>
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<div>
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<span class="h3 mim-font">
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MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY 1 WITH MYOPATHY AND NEUROPATHY, INCLUDED
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</span>
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</div>
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<div>
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<br />
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 237999008;
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<strong>ORPHA:</strong> 746;
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<strong>DO:</strong> 0070619;
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</span>
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</p>
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<div>
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<br />
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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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</th>
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</tr>
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</thead>
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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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2p23.3
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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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Mitochondrial trifunctional protein deficiency 1
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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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609015
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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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HADHA
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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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600890
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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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<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>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 of evidence that mitochondrial trifunctional protein deficiency-1 (MTPD1) is caused by homozygous or compound heterozygous mutation in the HADHA gene (600890), the alpha subunit of the mitochondrial trifunctional protein.</p><p>See also isolated LCHAD deficiency (609016), which is caused by mutation in the HADHA gene.</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>The mitochondrial trifunctional protein, composed of 4 alpha and 4 beta subunits, catalyzes 3 steps in mitochondrial beta-oxidation of fatty acids: long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD), long-chain enoyl-CoA hydratase, and long-chain thiolase activities. Trifunctional protein deficiency is characterized by decreased activity of all 3 enzymes. Clinically, classic trifunctional protein deficiency can be classified into 3 main clinical phenotypes: neonatal onset of a severe, lethal condition resulting in sudden unexplained infant death (SIDS; 272120), infantile onset of a hepatic Reye-like syndrome, and late-adolescent onset of primarily a skeletal myopathy (Spiekerkoetter et al., 2003). </p><p>Some patients with MTP deficiency show a protracted progressive course associated with myopathy, recurrent rhabdomyolysis, and sensorimotor axonal neuropathy. These patients tend to survive into adolescence and adulthood (den Boer et al., 2003). </p><p><strong><em>Genetic Heterogeneity of Mitochondrial Trifunctional Protein Deficiency</em></strong></p><p>
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See also MTPD2 (620300), caused by mutation in the HADHB gene, the beta subunit of the mitochondrial trifunctional protein.</p>
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<h4>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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</h4>
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<span class="mim-text-font">
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<p>Wanders et al. (1992) reported an infant, born of first-cousin parents, who presented with hypoglycemia and major hypotonia at 2 days of age. The infant developed respiratory failure and showed poor spontaneous motility and absence of suckling and archaic reflexes on day 8, had acute cardiac failure on day 28 related to a hypokinetic cardiomyopathy with distended wall, and died on day 30. Studies of fibroblasts from the patient demonstrated deficiency of all 3 activities of trifunctional protein. </p><p>Jackson et al. (1992) reported a young girl who presented with recurrent episodes of muscle weakness culminating in a severe attack of generalized muscle weakness. Muscle mitochondria from the patient demonstrated an abnormal pattern of intermediates of beta-oxidation with an accumulation of 3-hydroxyacyl- and 2-enoyl-CoA and carnitine esters, and 3-oxoacylcarnitines. The patient was shown to have a combined defect of long-chain 3-hydroxyacyl-CoA dehydrogenase, long-chain 3-oxoacyl-CoA thiolase, and long-chain 2-enoyl-CoA hydratase. In fibroblasts from both parents, intermediate levels of enzyme activity were found. The proband died at age 4.5 years after a brief illness. An earlier-born brother had died at the age of 2.5 years, probably of the same disorder. He showed terminally low-output cardiac failure with an enlarged dilated heart and generalized weakness. </p><p>Dionisi-Vici et al. (1996) described the clinical course of a girl diagnosed at the age of 15 months with a history of recurrent vomiting at birth. The patient presented with severe hypotonia, respiratory failure requiring assisted ventilation, and severe dilated cardiomyopathy. Urine organic acids were strongly suggestive of a fatty acid oxidation defect by characteristic excretion of 3-hydroxydicarboxylic acid; additional laboratory findings were consistent with hypoparathyroidism. Fibroblast analysis showed that all 3 MTP enzyme activities were affected, albeit to different degrees. In follow-up, additional episodes of metabolic decompensation were induced by intercurrent febrile illnesses. </p><p>Den Boer et al. (2003) found that 9 (42%) of 21 patients with MTP deficiency presented with rapidly progressive clinical deterioration. Eight of these patients died of cardiac complications within 8 weeks; the ninth patient died of liver failure within 4 weeks. Six of the 9 had hypoketotic hypoglycemia. Other clinical features of the rapidly progressive group included hypotonia, lethargy, liver disease, and peripheral neuropathy. One of 7 tested had pigmentary retinopathy. Two patients who were diagnosed prenatally died despite treatment; 1 of these patients had hydrops fetalis. Two (11%) of 19 pregnancies on which information was available were complicated by HELLP syndrome (hemolysis, elevated liver enzymes, and low platelets). </p><p>Dagher et al. (2021) reviewed the clinical features of MTP deficiency and described 3 phenotypic groups: an early-onset cardiomyopathy associated with early death, an intermediate form with recurrent hypoketotic hypoglycemia, and a sensorimotor neuropathy with episodic rhabdomyolysis and hypoparathyroidism. The severity of disease presentation was found to be correlated with the degree of MTP enzyme deficiency. Dilated cardiomyopathy, which had the potential to develop across the life span, was the most common cardiomyopathy observed. However, the most severe form of cardiomyopathy was a rapidly progressing neonatal cardiomyopathy presenting around 3 months of age. Rhabdomyolysis in MTP deficiency was typically caused by prolonged activity, cold exposure, or infection. Peripheral neuropathy resembled axonal Charcot Marie Tooth disease (CMT2; see 118210) and could present without any other MTP deficiency symptoms. Early-onset liver disease was also reported in severe MTP enzyme deficiency, and was often diagnosed after patients presented with hypoketotic hypoglycemia. Dagher et al. (2021) noted that the hypoketotic hypoglycemia resulted from the inability to maintain substrates for ketogenesis via fatty acid oxidation and a lack of available ATP for gluconeogenesis. </p><p><strong><em>MTP Deficiency 1 with Myopathy and Neuropathy</em></strong></p><p>
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Dionisi Vici et al. (1991) described slowly progressive neuropathy and recurrent myoglobinuria in a boy whose sister had died at the age of 3 years, presumably of the same disorder. </p><p>Schaefer et al. (1996) reported 3 adults from a family with symptoms of recurrent exercise-induced rhabdomyolysis associated with peripheral neuropathy. Investigation of fatty acid oxidation in the patients revealed a deficiency of the mitochondrial trifunctional enzyme of beta-oxidation. The patients appeared to represent a novel phenotype of MTP deficiency characterized by recurrent rhabdomyolysis and peripheral neuropathy, but without involvement of other organs. This phenotype was associated with prolonged survival beyond the fourth decade. A low-fat/high-carbohydrate diet proved beneficial in one of the patients, drastically reducing the frequency of rhabdomyolytic episodes. Schaefer et al. (1996) noted that MTP deficiency should be considered in patients with recurrent episodes of myoglobinuria and peripheral neuropathy presenting in later life. </p><p>Den Boer et al. (2003) found that 12 (57%) of 21 patients with MTP deficiency presented with a slow, insidious disease characterized by hypotonia, muscle cramps, decreased tendon reflexes, and peripheral neuropathy. Other features included cardiomyopathy, liver disease, and feeding difficulties with failure to thrive. Seven of these patients died: 5 from progressive cardiomyopathy, 1 from severe infection and metabolic derangement, and 1 suddenly almost 14 years after onset. The 5 surviving patients were in relatively good clinical condition without cardiomyopathy. Three had developmental delay. Some had episodic rhabdomyolysis and/or myoglobinuria. </p><p>Liewluck et al. (2013) reported a man who presented in his late forties with exercise-induced rhabdomyolysis and was found to have features of a mild sensorimotor axonal peripheral neuropathy affecting the lower limbs. Laboratory studies showed an abnormal acylcarnitine profile, suggesting a defect in HADHA activity, although patient cells were not available for study. Genetic analysis revealed compound heterozygous mutations in the HADHA gene (600890.0001 and 600890.0004). </p><p>Yang et al. (2022) reported 2 Chinese sibs with MTPD who died at 3 years of age and 7 months of age in the setting of illness with fever and diarrhea. The younger sib had an autopsy which showed diffuse hepatocyte steatosis and cardiomyocyte steatosis. </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Clinical Management</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Although the mortality rate among children with deficiency of LCHAD or complete deficiency of the trifunctional protein had been reported to be 75 to 90%, Ibdah et al. (1999) found that 67% of the affected children in their study were alive and receiving dietary treatment at the most recent follow-up, and most were able to attend school. Dietary treatment of children with fatty acid oxidation disorders dramatically reduced morbidity and mortality. </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. 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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</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>In a patient with MTP deficiency, Brackett et al. (1995) identified compound heterozygosity for 2 mutations in the HADHA gene (600890.0003 and 600890.0004). The patient presented in the neonatal period with hypoglycemia and cardiomyopathy and later died unexpectedly at the age of 18 months. </p><p>In 2 Chinese sibs with MTPD, Yang et al. (2022) identified compound heterozygous mutations in the HADHA gene (R235W, 600890.0011; G703R, 600890.0012). The mutations, which were identified by whole-exome sequencing and confirmed by Sanger sequencing, segregated with disease in the family. </p>
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<h4>
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<span class="mim-font">
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<strong>Genotype/Phenotype Correlations</strong>
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</span>
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<span class="mim-text-font">
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<p>In 2 unrelated patients with slowly progressive neuropathy and recurrent myoglobinuria, Ibdah et al. (1998) confirmed MTP deficiency and identified biallelic mutations in exon 9 of the HADHA gene (600890.0008-600890.0010). One of the patients had been reported by Dionisi Vici et al. (1991); both patients survived into their early teens. Ibdah et al. (1998) suggested that the relatively milder phenotype in these patients may be correlated with mutations in exon 9 of the HADHA gene, which encodes a linker domain between 2 regions of enzyme activity. </p><p>Ibdah et al. (1999) reported 5 children with complete MTP deficiency who presented with neonatal dilated cardiomyopathy or progressive neuromyopathy. None had the common HADHA mutation (E474Q; 600890.0001) often seen in isolated LCHAD deficiency, and none of their mothers had liver disease during pregnancy. Similarly, Chakrapani et al. (2000) reported 5 families with trifunctional protein deficiency in which 3 mothers experienced significant hepatic disease while carrying an affected fetus. Diagnoses were based on increased levels of long-chain hydroxyacylcarnitines and deficiencies of 3-hydroxyacyl-CoA dehydrogenase and 3-ketoacyl-CoA thiolase activity in fibroblasts. None of these affected infants had the E474Q mutation. </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>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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Miyajima et al. (1997)
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</span>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<p class="mim-text-font">
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Brackett, J. C., Sims, H. F., Rinaldo, P., Shapiro, S., Powell, C. K., Bennett, M. J., Strauss, A. W.
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<strong>Two alpha subunit donor splice site mutations cause human trifunctional protein deficiency.</strong>
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J. Clin. Invest. 95: 2076-2082, 1995.
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[PubMed: 7738175]
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[Full Text: https://doi.org/10.1172/JCI117894]
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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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Chakrapani, A., Olpin, S., Cleary, M., Walter, J. H., Wraith, J. E., Besley, G. T. N.
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<strong>Trifunctional protein deficiency: three families with significant maternal hepatic dysfunction in pregnancy not associated with E474Q mutation.</strong>
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J. Inherit. Metab. Dis. 23: 826-834, 2000.
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<li>
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<p class="mim-text-font">
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Dagher, R., Massie, R., Gentil, B. J.
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<strong>MTP deficiency caused by HADHB mutations: pathophysiology and clinical manifestations.</strong>
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Molec. Genet. Metab. 133: 1-7, 2021.
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[PubMed: 33744096]
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[Full Text: https://doi.org/10.1016/j.ymgme.2021.03.010]
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</p>
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</li>
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<p class="mim-text-font">
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den Boer, M. E. J., Dionisi-Vici, C., Chakrapani, A., van Thuijl, A. O. J., Wanders, R. J. A., Wijburg, F. A.
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<strong>Mitochondrial trifunctional protein deficiency: a severe fatty acid oxidation disorder with cardiac and neurologic involvement.</strong>
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J. Pediat. 142: 684-689, 2003.
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[PubMed: 12838198]
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[Full Text: https://doi.org/10.1067/mpd.2003.231]
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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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Dionisi Vici, C., Burlina, A. B., Bertini, E., Bachmann, C., Mazziotta, M. R. M., Zacchello, F., Sabetta, G., Hale, D. E.
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<strong>Progressive neuropathy and recurrent myoglobinuria in a child with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency.</strong>
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J. Pediat. 118: 744-746, 1991.
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[PubMed: 2019931]
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[Full Text: https://doi.org/10.1016/s0022-3476(05)80039-3]
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</p>
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<p class="mim-text-font">
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Dionisi-Vici, C., Garavaglia, B., Burlina, A. B., Bertini, E., Saponara, I., Sabetta, G., Taroni, F.
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<strong>Hypoparathyroidism in mitochondrial trifunctional protein deficiency.</strong>
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J. Pediat. 129: 159-162, 1996.
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[PubMed: 8757579]
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[Full Text: https://doi.org/10.1016/s0022-3476(96)70206-8]
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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 class="mim-text-font">
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Ibdah, J. A., Bennett, M. J., Rinaldo, P., Zhao, Y., Gibson, B., Sims, H. F., Strauss, A. W.
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<strong>A fetal fatty-acid oxidation disorder as a cause of liver disease in pregnant women.</strong>
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New Eng. J. Med. 340: 1723-1731, 1999.
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[PubMed: 10352164]
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[Full Text: https://doi.org/10.1056/NEJM199906033402204]
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<li>
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<p class="mim-text-font">
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Ibdah, J. A., Tein, I., Dionisi-Vici, C., Bennett, M. J., IJlst, L., Gibson, B., Wanders, R. J. A., Strauss, A. W.
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<strong>Mild trifunctional protein deficiency is associated with progressive neuropathy and myopathy and suggests a novel genotype-phenotype correlation.</strong>
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J. Clin. Invest. 102: 1193-1199, 1998.
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[PubMed: 9739053]
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[Full Text: https://doi.org/10.1172/JCI2091]
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</li>
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<li>
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<p class="mim-text-font">
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Jackson, S., Kler, R. S., Bartlett, K., Briggs, H., Bindoff, L. A., Pourfarzam, M., Gardner-Medwin, D., Turnbull, D. M.
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<strong>Combined enzyme defect of mitochondrial fatty acid oxidation.</strong>
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J. Clin. Invest. 90: 1219-1225, 1992.
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[PubMed: 1401059]
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[Full Text: https://doi.org/10.1172/JCI115983]
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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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Liewluck, T., Mundi, M. S., Mauermann, M. L.
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<strong>Mitochondrial trifunctional protein deficiency: a rare cause of adult-onset rhabdomyolysis.</strong>
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Muscle Nerve 48: 989-991, 2013.
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[PubMed: 23868323]
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[Full Text: https://doi.org/10.1002/mus.23959]
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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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Miyajima, H., Orii, K. E., Shindo, Y., Hashimoto, T., Shinka, T., Kuhara, T., Matsumoto, I., Shimizu, H., Kaneko, E.
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<strong>Mitochondrial trifunctional protein deficiency associated with recurrent myoglobinuria in adolescence.</strong>
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Neurology 49: 833-837, 1997.
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[PubMed: 9305349]
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[Full Text: https://doi.org/10.1212/wnl.49.3.833]
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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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Schaefer, J., Jackson, S., Dick, D. J., Turnbull, D. M.
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<strong>Trifunctional enzyme deficiency: adult presentation of a usually fatal beta-oxidation defect.</strong>
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Ann. Neurol. 40: 597-602, 1996.
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[PubMed: 8871579]
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[Full Text: https://doi.org/10.1002/ana.410400409]
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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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Spiekerkoetter, U., Sun, B., Khuchua, Z., Bennett, M. J., Strauss, A. W.
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<strong>Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to beta-subunit mutations.</strong>
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Hum. Mutat. 21: 598-607, 2003.
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[PubMed: 12754706]
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[Full Text: https://doi.org/10.1002/humu.10211]
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</li>
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<li>
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<p class="mim-text-font">
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Wanders, R. J. A., IJlst, L., Poggi, F., Bonnefont, J. P., Munnich, A., Brivet, M., Rabier, D., Saudubray, J. M.
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<strong>Human trifunctional protein deficiency: a new disorder of mitochondrial fatty acid beta-oxidation.</strong>
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Biochem. Biophys. Res. Commun. 188: 1139-1145, 1992.
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[PubMed: 1445348]
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[Full Text: https://doi.org/10.1016/0006-291x(92)91350-y]
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Yang, J., Yuan, D., Tan, X., Zeng, Y., Tang, N., Chen, D., Tan, J., Cai, R., Huang, J., Yan, T.
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<strong>Analysis of a family with mitochondrial trifunctional protein deficiency caused by HADHA gene mutations.</strong>
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Molec. Med. Rep. 25: 47, 2022.
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[PubMed: 34878152]
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[Full Text: https://doi.org/10.3892/mmr.2021.12563]
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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 : 03/14/2023<br>Hilary J. Vernon - updated : 06/14/2021<br>Hilary J. Vernon - updated : 05/13/2021<br>Cassandra L. Kniffin - updated : 08/15/2016<br>Cassandra L. Kniffin - updated : 5/13/2015<br>Cassandra L. Kniffin - updated : 7/20/2010<br>Cassandra L. Kniffin - updated : 12/13/2007<br>Cassandra L. Kniffin - updated : 12/12/2007<br>Carol A. Bocchini - updated : 11/12/2004
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carol : 04/10/2023<br>carol : 04/03/2023<br>carol : 03/27/2023<br>carol : 03/14/2023<br>carol : 09/06/2022<br>carol : 03/11/2022<br>carol : 06/14/2021<br>carol : 05/17/2021<br>carol : 05/14/2021<br>carol : 05/13/2021<br>carol : 08/16/2016<br>ckniffin : 08/15/2016<br>alopez : 05/18/2015<br>mcolton : 5/13/2015<br>ckniffin : 5/13/2015<br>wwang : 7/27/2010<br>ckniffin : 7/20/2010<br>ckniffin : 7/20/2010<br>carol : 12/14/2007<br>ckniffin : 12/13/2007<br>ckniffin : 12/12/2007<br>carol : 7/14/2005<br>carol : 11/12/2004<br>carol : 11/10/2004<br>carol : 11/10/2004
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