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Entry
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- #201450 - ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD
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- OMIM
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<p>
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<span class="h4">#201450</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/201450"><strong>Clinical Synopsis</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#biochemicalFeatures">Biochemical Features</a>
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<a href="#diagnosis">Diagnosis</a>
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<a href="#clinicalManagement">Clinical Management</a>
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<a href="#inheritance">Inheritance</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="#populationGenetics">Population Genetics</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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<div><a href="https://clinicaltrials.gov/search?cond=ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF" 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=3570&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/NBK1424/" 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/4547" 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/medium-chain-acyl-coa-dehydrogenase-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=201450[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/C8-C6-C10.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/C8-C6-C10-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=42" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0080153" 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/201450" 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/OMIA002585/" 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:0080153" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://catalog.coriell.org/Search?q=OmimNum:201450" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 128596003<br />
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<strong>ICD10CM:</strong> E71.311<br />
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<strong>ORPHA:</strong> 42<br />
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<strong>DO:</strong> 0080153<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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201450
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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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<span class="mim-font">
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ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD
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</span>
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</h3>
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<div>
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<br />
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</div>
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|
|
|
|
<div>
|
|
<a id="alternativeTitles" class="mim-anchor"></a>
|
|
<div>
|
|
<p>
|
|
<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
ACADM DEFICIENCY<br />
|
|
MCAD DEFICIENCY<br />
|
|
MCADH DEFICIENCY<br />
|
|
CARNITINE DEFICIENCY SECONDARY TO MEDIUM-CHAIN ACYL-CoA DEHYDROGENASE DEFICIENCY
|
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</span>
|
|
</h4>
|
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</div>
|
|
</div>
|
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<div>
|
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<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/1/727?start=-3&limit=10&highlight=727">
|
|
1p31.1
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Acyl-CoA dehydrogenase, medium chain, deficiency of
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|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/201450"> 201450 </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>
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|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
ACADM
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607008"> 607008 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
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|
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<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/201450" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/201450" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/201450" 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> ABDOMEN </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Liver </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hepatomegaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/80515008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">80515008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R16.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R16.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/789.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">789.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0019209&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0019209</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002240" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002240</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002240" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002240</a>]</span><br /> -
|
|
Fatty infiltration of liver <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/442191002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">442191002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/197321007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">197321007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2711227&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2711227</a>, <a href="https://bioportal.bioontology.org/search?q=C0015695&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0015695</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001397" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001397</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001397" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001397</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Gastrointestinal </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Vomiting <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/422400008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">422400008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/300359004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">300359004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249497008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249497008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R11.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R11.1</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R11.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R11.10</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0042963&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0042963</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002013" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002013</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002013" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002013</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> NEUROLOGIC </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Central Nervous System </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Lethargy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/214264003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">214264003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R53.83" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R53.83</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0023380&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0023380</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001254" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001254</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001254" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001254</a>]</span><br /> -
|
|
Seizures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/91175000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">91175000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0036572&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0036572</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001250</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001250</a>]</span><br /> -
|
|
Coma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/371632003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">371632003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/405809000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">405809000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R40.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R40.20</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R40.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R40.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/780.01" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">780.01</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0543874&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0543874</a>, <a href="https://bioportal.bioontology.org/search?q=C3146279&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3146279</a>, <a href="https://bioportal.bioontology.org/search?q=C0009421&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0009421</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001259" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001259</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001259" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001259</a>]</span><br /> -
|
|
Cerebral edema <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/2032001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">2032001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G93.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G93.6</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/348.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">348.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0006114&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0006114</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002181" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002181</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002181" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002181</a>]</span><br /> -
|
|
Developmental delay if undiagnosed or untreated <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1860078&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1860078</a>]</span><br /> -
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Hypotonia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398151007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398151007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398152000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398152000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026827&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026827</a>, <a href="https://bioportal.bioontology.org/search?q=C1858120&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1858120</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001290" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001290</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001252</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001252</a>]</span><br />
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<div>
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<span class="h5 mim-font">
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<strong> METABOLIC FEATURES </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Absent to trace urine and plasma ketones <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1860087&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1860087</a>]</span><br /> -
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Mild metabolic acidosis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1860088&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1860088</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/59455009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">59455009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E87.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E87.20</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001942" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001942</a>]</span><br /> -
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Hypoglycemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237630007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237630007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/271327008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">271327008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/302866003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">302866003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1179458001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1179458001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E16.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E16.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/251.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">251.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020615&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020615</a>, <a href="https://bioportal.bioontology.org/search?q=C5767385&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5767385</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001943" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001943</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001943" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001943</a>]</span><br />
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<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 style="margin-left: 2em;">
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<span class="mim-font">
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- Mildly elevated blood ammonia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1860079&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1860079</a>]</span><br /> -
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Increased liver enzymes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0235996&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0235996</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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Medium chain dicarboxylic aciduria <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1860081&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1860081</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008309" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008309</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008309" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008309</a>]</span><br /> -
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Decreased plasma carnitine <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5848230&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5848230</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003234" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003234</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003234" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003234</a>]</span><br /> -
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Acylglycinuria <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1860082&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1860082</a>]</span><br /> -
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Deficiency of medium-chain acyl-CoA dehydrogenase <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/128596003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">128596003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E71.311" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E71.311</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0220710&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0220710</a>]</span><br />
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</span>
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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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- Most common disorder of fatty acid oxidation (1/13,000 births)<br /> -
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Clinical presentation varies from asymptomatic to fulminant course<br /> -
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Onset precipitated by fasting or illness<br />
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</span>
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</div>
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</div>
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<div>
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<div>
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<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 medium-chain acyl-CoA dehydrogenase (MCAD) gene (ACADM, <a href="/entry/607008#0001">607008.0001</a>)<br />
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</span>
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<div class="text-right">
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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<div>
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<br />
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</h4>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because medium-chain acyl-CoA dehydrogenase deficiency (ACADMD) is caused by homozygous or compound heterozygous mutation in the medium-chain acyl-CoA dehydrogenase gene (ACADM; <a href="/entry/607008">607008</a>) on chromosome 1p31.</p>
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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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<p>Inherited deficiency of medium-chain acyl-CoA dehydrogenase (ACADMD) is characterized by intolerance to prolonged fasting, recurrent episodes of hypoglycemic coma with medium-chain dicarboxylic aciduria, impaired ketogenesis, and low plasma and tissue carnitine levels. The disorder may be severe, and even fatal, in young patients (<a href="#16" class="mim-tip-reference" title="Matsubara, Y., Kraus, J. P., Yang-Feng, T. L., Francke, U., Rosenberg, L. E., Tanaka, K. <strong>Molecular cloning of cDNAs encoding rat and human medium-chain acyl-CoA dehydrogenase and assignment of the gene to human chromosome 1.</strong> Proc. Nat. Acad. Sci. 83: 6543-6547, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3462713/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3462713</a>] [<a href="https://doi.org/10.1073/pnas.83.17.6543" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3462713">Matsubara et al., 1986</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3462713" 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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<br />
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<a id="clinicalFeatures" class="mim-anchor"></a>
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<span id="mimClinicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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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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<p><a href="#12" class="mim-tip-reference" title="Gregersen, N., Lauritzen, R., Rasmussen, K. <strong>Suberylglycine excretion in urine from a patient with dicarboxylic aciduria.</strong> Clin. Chim. Acta 70: 417-425, 1976.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/947635/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">947635</a>] [<a href="https://doi.org/10.1016/0009-8981(76)90355-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="947635">Gregersen et al. (1976)</a> first described MCADH deficiency in a patient who presented with unexplained episodes of lethargy and unconsciousness and C6-C10 dicarboxylic aciduria. <a href="#18" class="mim-tip-reference" title="Naylor, E. W., Mosovich, L. L., Guthrie, R., Evans, J. E., Tieckelmann, H. <strong>Intermittent dicarboxylic aciduria and hypoglycemia in two siblings: an apparent defect in beta-oxidation of fatty acids. (Abstract)</strong> Am. J. Hum. Genet. 30: 35A only, 1978."None>Naylor et al. (1978)</a> studied 2 early-adolescent sisters who suffered from intermittent hypoglycemia, lethargy, and coma associated with peripheral lobular fatty changes in the liver. During hypoglycemia, massive C6-C14 dicarboxylic aciduria was demonstrated by gas chromatography. Adipic and monounsaturated sebacic, seburic, ozeleic acids were among those elevated in urine and serum. The workers suggested that because of a defect in beta-oxidation of fatty acids of medium chain length, omega oxidation to dicarboxylic acids had occurred through an alternative pathway. Probably identical cases have been reported, although not in full detail. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=947635" 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="Colle, E., Mamer, O. A., Montgomery, J. A., Miller, J. D. <strong>Episodic hypoglycemia with psi-hydroxy fatty acid excretion.</strong> Pediat. Res. 17: 171-176, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6402754/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6402754</a>] [<a href="https://doi.org/10.1203/00006450-198302000-00018" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6402754">Colle et al. (1983)</a> reported 2 children with reversible episodes of hypoglycemia and 'Reye syndrome' who during the acute phases showed urinary excretion of dicarboxylic acids and psi-hydroxy fatty acids. <a href="#22" class="mim-tip-reference" title="Rhead, W. J., Amendt, B. A., Fritchman, K. S., Felts, S. J. <strong>Dicarboxylic aciduria: deficient 1-(14)C-octanoate oxidation and medium-chain acyl-CoA dehydrogenase in fibroblasts.</strong> Science 221: 73-75, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6857268/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6857268</a>] [<a href="https://doi.org/10.1126/science.6857268" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6857268">Rhead et al. (1983)</a> measured defective medium-chain acyl-CoA dehydrogenase in one of the patients of <a href="#8" class="mim-tip-reference" title="Colle, E., Mamer, O. A., Montgomery, J. A., Miller, J. D. <strong>Episodic hypoglycemia with psi-hydroxy fatty acid excretion.</strong> Pediat. Res. 17: 171-176, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6402754/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6402754</a>] [<a href="https://doi.org/10.1203/00006450-198302000-00018" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6402754">Colle et al. (1983)</a>, thus supporting the findings of <a href="#14" class="mim-tip-reference" title="Kolvraa, S., Gregersen, N., Christensen, E., Hobolth, N. <strong>In vitro fibroblast studies in a patient with C6-C10-dicarboxylic aciduria: evidence for a defect in general acyl-CoA dehydrogenase.</strong> Clin. Chim. Acta 126: 53-67, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7172449/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7172449</a>] [<a href="https://doi.org/10.1016/0009-8981(82)90361-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7172449">Kolvraa et al. (1982)</a> and <a href="#9" class="mim-tip-reference" title="Divry, P., David, M., Gregersen, N., Kolvraa, S., Christensen, E., Collet, J. P., Dellamonica, C., Cotte, J. <strong>Dicarboxylic aciduria due to medium chain acyl CoA dehydrogenase defect: a cause of hypoglycemia in childhood.</strong> Acta Paediat. Scand. 72: 943-949, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6673498/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6673498</a>] [<a href="https://doi.org/10.1111/j.1651-2227.1983.tb09849.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6673498">Divry et al. (1983)</a> that acyl-CoA dehydrogenase deficiency can be responsible for dicarboxylic aciduria. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6857268+7172449+6673498+6402754" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a Finnish family, <a href="#21" class="mim-tip-reference" title="Rasanen, O., Korhonen, M., Simila, S., Autere, T., Hakosalo, J. <strong>Fatal familial steatosis of the liver and kidney in two siblings.</strong> Z. Kinderheilk. 110: 267-275, 1971.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5567005/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5567005</a>] [<a href="https://doi.org/10.1007/BF00440186" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5567005">Rasanen et al. (1971)</a> reported 2 sibs with hepatic steatosis (<a href="/entry/228100">228100</a>). Studies of a subsequently born affected sib showed changes consistent with nonketotic C6-C10-dicarboxylic aciduria (<a href="#26" class="mim-tip-reference" title="Simila, S., von Wendt, L., Ruostesuo, J., Gregersen, N. <strong>Nonketotic C6-C10-dicarboxylic aciduria presenting as familial hepatic steatosis. (Letter)</strong> Am. J. Med. Genet. 18: 543-545, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6476011/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6476011</a>] [<a href="https://doi.org/10.1002/ajmg.1320180323" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6476011">Simila et al., 1984</a>). <a href="#27" class="mim-tip-reference" title="Stanley, C. A., Hale, D. E., Coates, P. M., Hall, C. L., Corkey, B. E., Yang, W., Kelley, R. I., Gonzales, E. L., Williamson, J. R., Baker, L. <strong>Medium-chain acyl-CoA dehydrogenase deficiency in children with non-ketotic hypoglycemia and low carnitine levels.</strong> Pediat. Res. 17: 877-884, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6646897/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6646897</a>] [<a href="https://doi.org/10.1203/00006450-198311000-00008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6646897">Stanley et al. (1983)</a> reported 3 children in 2 families who presented in early childhood with episodes of illness associated with fasting and resembling Reye syndrome: coma, hypoglycemia, hyperammonemia, and fatty liver. Deficiency of medium-chain acyl-CoA dehydrogenase was demonstrated. The authors concluded that the carnitine deficiency was a secondary phenomenon and suggested that other patients with 'systemic carnitine deficiency' (see <a href="/entry/212140">212140</a>) who fail to respond to carnitine therapy may have defects in fatty acid oxidation of this type. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5567005+6646897+6476011" 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="#24" class="mim-tip-reference" title="Roe, C. R., Millington, D. S., Maltby, D. A., Kinnebrew, P. <strong>Recognition of medium-chain acyl-CoA-dehydrogenase deficiency in asymptomatic siblings of children dying of sudden infant death or Reye-like syndromes.</strong> J. Pediat. 108: 13-18, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3944676/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3944676</a>] [<a href="https://doi.org/10.1016/s0022-3476(86)80762-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3944676">Roe et al. (1986)</a> identified this defect in mitochondrial beta-oxidation in 2 asymptomatic sibs in a family in which 2 previous infant deaths had occurred: one attributed to sudden infant death syndrome and one to Reye syndrome. Recognition of MCAD deficiency in one of these infants and in a surviving sib was accomplished by detection of octanoylcarnitine. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3944676" 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="Matsubara, Y., Kraus, J. P., Yang-Feng, T. L., Francke, U., Rosenberg, L. E., Tanaka, K. <strong>Molecular cloning of cDNAs encoding rat and human medium-chain acyl-CoA dehydrogenase and assignment of the gene to human chromosome 1.</strong> Proc. Nat. Acad. Sci. 83: 6543-6547, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3462713/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3462713</a>] [<a href="https://doi.org/10.1073/pnas.83.17.6543" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3462713">Matsubara et al. (1986)</a> stated that at least 24 cases of MCADH deficiency had been reported. <a href="#29" class="mim-tip-reference" title="Taubman, B., Hale, D. E., Kelley, R. I. <strong>Familial Reye-like syndrome: a presentation of medium-chain acyl-coenzyme A dehydrogenase deficiency.</strong> Pediatrics 79: 382-385, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3822638/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3822638</a>]" pmid="3822638">Taubman et al. (1987)</a> diagnosed MCADH deficiency in a 20-month-old girl with a history of 2 sibs who died of an encephalopathy diagnosed as Reye syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3822638+3462713" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#1" class="mim-tip-reference" title="Amendt, B. A., Rhead, W. J. <strong>Catalytic defect of medium-chain acyl-coenzyme A dehydrogenase deficiency: lack of both cofactor responsiveness and biochemical heterogeneity in eight patients.</strong> J. Clin. Invest. 76: 963-969, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3840178/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3840178</a>] [<a href="https://doi.org/10.1172/JCI112096" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3840178">Amendt and Rhead (1985)</a> studied the original patient described by <a href="#12" class="mim-tip-reference" title="Gregersen, N., Lauritzen, R., Rasmussen, K. <strong>Suberylglycine excretion in urine from a patient with dicarboxylic aciduria.</strong> Clin. Chim. Acta 70: 417-425, 1976.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/947635/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">947635</a>] [<a href="https://doi.org/10.1016/0009-8981(76)90355-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="947635">Gregersen et al. (1976)</a> and 7 others and found no biochemical heterogeneity. The patients showed elevated urinary excretion of straight-chain C6-C10-omega-dicarboxylic acids. These are formed by omega-oxidation of accumulated C10-C12-monocarboxylic acids, which are then shortened by beta-oxidation to medium-chain length. The isolated excretion of straight-chain C6-C10-dicarboxylic acids without associated ketosis is consistent with the defective mitochondrial beta-oxidation produced by MCADH deficiency. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=947635+3840178" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#19" class="mim-tip-reference" title="Onkenhout, W., Venizelos, V., Scholte, H. R., De Klerk, J. B. C., Poorthuis, B. J. H. M. <strong>Intermediates of unsaturated fatty acid oxidation are incorporated in triglycerides but not in phospholipids in tissues from patients with mitochondrial beta-oxidation defects.</strong> J. Inherit. Metab. Dis. 24: 337-344, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11486898/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11486898</a>] [<a href="https://doi.org/10.1023/a:1010592232317" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11486898">Onkenhout et al. (2001)</a> determined the fatty acid composition of liver, skeletal muscle, and heart obtained postmortem from patients with deficiency of 1 of 3 types of acyl-CoA dehydrogenase: medium-chain, multiple (MADD; <a href="/entry/231680">231680</a>), and very long-chain (VLCADD; <a href="/entry/201475">201475</a>). Increased amounts of multiple unsaturated fatty acids were found exclusively in the triglyceride fraction. They could not be detected in the free fatty acid or phospholipid fractions. <a href="#19" class="mim-tip-reference" title="Onkenhout, W., Venizelos, V., Scholte, H. R., De Klerk, J. B. C., Poorthuis, B. J. H. M. <strong>Intermediates of unsaturated fatty acid oxidation are incorporated in triglycerides but not in phospholipids in tissues from patients with mitochondrial beta-oxidation defects.</strong> J. Inherit. Metab. Dis. 24: 337-344, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11486898/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11486898</a>] [<a href="https://doi.org/10.1023/a:1010592232317" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11486898">Onkenhout et al. (2001)</a> concluded that intermediates of unsaturated fatty acid oxidation that accumulate as a consequence of MCAD, MADD, and VLCADD are transported to the endoplasmic reticulum for esterification into neutral glycerolipids. The pattern of accumulation is characteristic for each disease, which makes fatty acid analysis of total lipid of postmortem tissues a useful tool in the detection of mitochondrial fatty acid oxidation defects in patients who have died unexpectedly. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11486898" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#23" class="mim-tip-reference" title="Rinaldo, P., O'Shea, J. J., Coates, P. M., Hale, D. E., Stanley, C. A., Tanaka, K. <strong>Medium-chain acyl-CoA dehydrogenase deficiency: diagnosis by stable-isotope dilution measurement of urinary n-hexanoylglycine and 3-phenylpropionylglycine.</strong> New Eng. J. Med. 319: 1308-1313, 1988. Note: Erratum: New Eng. J. Med. 320: 1227 only, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3054550/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3054550</a>] [<a href="https://doi.org/10.1056/NEJM198811173192003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3054550">Rinaldo et al. (1988)</a> found that measurement of urinary hexanoylglycine and phenylpropionylglycine by a method of stable-isotope dilution is a fast and reliable method for diagnosis of MCAD deficiency. It can be applied to random urine specimens without pretreatment such as fasting. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3054550" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Bennett, M. J., Coates, P. M., Hale, D. E., Millington, D. S., Pollitt, R. J., Rinaldo, P., Roe, C. R., Tanaka, K. <strong>Analysis of abnormal urinary metabolites in the newborn period in medium-chain acyl-CoA dehydrogenase deficiency.</strong> J. Inherit. Metab. Dis. 13: 707-715, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2246856/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2246856</a>] [<a href="https://doi.org/10.1007/BF01799572" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2246856">Bennett et al. (1990)</a> identified urinary metabolites useful in detecting MCAD deficiency in the newborn period. They suggested that this would be useful in the screening of later-born sibs of cases of the following: proven MCAD deficiency, Reye syndrome (deceased and not tested for MCAD deficiency), sudden infant death syndrome under 1 year of age, sudden unexpected death between ages 1 and 4, and hypoglycemia of unknown origin. Two of the 5 patients studied by <a href="#32" class="mim-tip-reference" title="von Dobeln, U., Venizelos, N., Hagenfeldt, L. <strong>Retrospective diagnosis of 3-hydroxydicarboxylic aciduria by analysis of filter paper blood samples.</strong> J. Inherit. Metab. Dis. 13: 165-168, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2143242/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2143242</a>] [<a href="https://doi.org/10.1007/BF01799680" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2143242">von Dobeln et al. (1990)</a> had elder sibs who had died unexpectedly in early infancy. In 3 of the 5 patients and in both deceased sibs, stored filter paper blood samples obtained from the patients and their deceased sibs for purposes of neonatal screening showed elevated levels of 3-hydroxy fatty acids. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2246856+2143242" 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="#25" class="mim-tip-reference" title="Santer, R., Schmidt-Sommerfeld, E., Leung, Y. K., Fischer, J. E., Lebenthal, E. <strong>Medium-chain acyl CoA dehydrogenase deficiency: electron microscopic differentiation from Reye syndrome.</strong> Europ. J. Pediat. 150: 111-114, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2279505/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2279505</a>] [<a href="https://doi.org/10.1007/BF02072051" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2279505">Santer et al. (1990)</a> suggested that there are distinctive mitochondrial abnormalities on electron microscopy that rule out Reye syndrome and are suggestive of a disorder of mitochondrial fatty acid oxidation: in addition to large-droplet steatosis, there are an electron-dense mitochondrial matrix and a widened space of inner mitochondrial membranes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2279505" 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="#31" class="mim-tip-reference" title="Van Hove, J. L. K., Zhang, W., Kahler, S. G., Roe, C. R., Chen, Y.-T., Terada, N., Chace, D. H., Iafolla, A. K., Ding, J.-H., Millington, D. S. <strong>Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: diagnosis by acylcarnitine analysis in blood.</strong> Am. J. Hum. Genet. 52: 958-966, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8488845/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8488845</a>]" pmid="8488845">Van Hove et al. (1993)</a> demonstrated that the diagnosis of MCAD deficiency, including presymptomatic neonatal recognition, can be made reliably through the analysis of acylcarnitines in blood. Tandem mass spectrometry is a convenient method for fast and accurate determination. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8488845" 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="Iafolla, A. K., Thompson, R. J., Jr., Roe, C. R. <strong>Medium-chain acyl-coenzyme A dehydrogenase deficiency: clinical course in 120 affected children.</strong> J. Pediat. 124: 409-415, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8120710/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8120710</a>] [<a href="https://doi.org/10.1016/s0022-3476(94)70363-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8120710">Iafolla et al. (1994)</a> suggested that MCAD deficiency satisfies the criteria for newborn population screening. The authors collated medical data on 120 patients with MCAD deficiency referred to Duke University Medical Center for biochemical testing. They found that 88% were initially referred because of clinical illness or sudden death. Viral infections precipitated the illness in 85% of cases. Only 12% were initially suspected of having MCAD deficiency. Other initial diagnoses included Reye syndrome, SIDS, idiopathic hypoglycemia, and carnitine deficiency. There were 55 male and 65 female patients ranging from birth to 19 years of age; 118 were white. Twenty-three children died before the diagnosis was made, indicating that unidentified patients with this disorder have a risk of sudden death in early childhood. Furthermore, they found that survivors have a risk of developmental disability, chronic muscle weakness, failure to thrive, and 'cerebral palsy.' Among the sibs of the patients, 23 living sibs were found to be affected on screening and 14 had died. Five carrier parents had been symptomatic in childhood. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8120710" 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="#34" class="mim-tip-reference" title="Ziadeh, R., Hoffman, E. P., Finegold, D. N., Hoop, R. C., Brackett, J. C., Strauss, A. W., Naylor, E. W. <strong>Medium chain acyl-CoA dehydrogenase deficiency in Pennsylvania: neonatal screening shows high incidence and unexpected mutation frequencies.</strong> Pediat. Res. 37: 675-678, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7603790/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7603790</a>] [<a href="https://doi.org/10.1203/00006450-199505000-00021" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7603790">Ziadeh et al. (1995)</a> reported the findings in a prospective neonatal screening program in Pennsylvania using tandem mass spectrometry. From the first 80,371 newborns screened, they found 9 babies with MCAD (1/8930), plus 2 additional newborns, screened because of a previously known family history. Molecular analysis showed that 56% of the patients were compound heterozygotes for the 985A-G mutation (K304E; <a href="/entry/607008#0001">607008.0001</a>), commonly referred to as G985, and a second mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7603790" 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="Clayton, P. T., Doig, M., Ghafari, S., Meaney, C., Taylor, C., Leonard, J. V., Morris, M., Johnson, A. W. <strong>Screening for medium chain acyl-CoA dehydrogenase deficiency using electrospray ionisation tandem mass spectrometry.</strong> Arch. Dis. Child. 79: 109-115, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9797589/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9797589</a>] [<a href="https://doi.org/10.1136/adc.79.2.109" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9797589">Clayton et al. (1998)</a> reported their experience in diagnosing MCAD deficiency using the technique of electrospray ionization tandem mass spectrometry (ESI-MS/MS) analysis of butylated carnitine species from dried blood spots. The authors concluded that if neonatal screening was undertaken at 7 to 10 days of age, this technique was both sensitive and specific and would therefore be suitable for a national neonatal screening program. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9797589" 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>Prenatal Diagnosis</em></strong></p><p>
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<a href="#4" class="mim-tip-reference" title="Bennett, M. J., Allison, F., Lowther, G. W., Gray, R. G. F., Johnston, D. I., Fitzsimmons, J. S., Manning, N. J., Pollitt, R. J. <strong>Prenatal diagnosis of medium-chain acyl-coenzyme A dehydrogenase deficiency.</strong> Prenatal Diag. 7: 135-141, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3575262/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3575262</a>] [<a href="https://doi.org/10.1002/pd.1970070210" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3575262">Bennett et al. (1987)</a> succeeded in prenatal diagnosis by demonstration of marked reduction in octanoate oxidation in cultured amniotic cells. The diagnosis was confirmed by enzyme assay of skin fibroblasts from the aborted fetus. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3575262" 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 the family reported by <a href="#24" class="mim-tip-reference" title="Roe, C. R., Millington, D. S., Maltby, D. A., Kinnebrew, P. <strong>Recognition of medium-chain acyl-CoA-dehydrogenase deficiency in asymptomatic siblings of children dying of sudden infant death or Reye-like syndromes.</strong> J. Pediat. 108: 13-18, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3944676/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3944676</a>] [<a href="https://doi.org/10.1016/s0022-3476(86)80762-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3944676">Roe et al. (1986)</a>, early treatment with L-carnitine was important to the survivors. Breast feeding may be protective in MCAD deficiency. <a href="#30" class="mim-tip-reference" title="Treem, W. R., Stanley, C. A., Goodman, S. I. <strong>Medium-chain acyl-CoA dehydrogenase deficiency: metabolic effects and therapeutic efficacy of long-term L-carnitine supplementation.</strong> J. Inherit. Metab. Dis. 12: 112-119, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2502671/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2502671</a>] [<a href="https://doi.org/10.1007/BF01800712" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2502671">Treem et al. (1989)</a> found that supplementation with carnitine was ineffective. They stressed that avoidance of fasting and prompt institution of glucose supplementation in situations when oral intake is interrupted remain the mainstays of therapy. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3944676+2502671" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The transmission pattern of MCAD deficiency in the families reported by <a href="#17" class="mim-tip-reference" title="Matsubara, Y., Narisawa, K., Miyabayashi, S., Tada, K., Coates, P. M., Bachmann, C., Elsas, L. J., II, Pollitt, R. J., Rhead, W. J., Roe, C. R. <strong>Identification of a common mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency.</strong> Biochem. Biophys. Res. Commun. 171: 498-505, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2393404/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2393404</a>] [<a href="https://doi.org/10.1016/0006-291x(90)91421-n" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2393404">Matsubara et al. (1990)</a> was consistent with autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2393404" 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 9 patients with MCAD deficiency, <a href="#17" class="mim-tip-reference" title="Matsubara, Y., Narisawa, K., Miyabayashi, S., Tada, K., Coates, P. M., Bachmann, C., Elsas, L. J., II, Pollitt, R. J., Rhead, W. J., Roe, C. R. <strong>Identification of a common mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency.</strong> Biochem. Biophys. Res. Commun. 171: 498-505, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2393404/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2393404</a>] [<a href="https://doi.org/10.1016/0006-291x(90)91421-n" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2393404">Matsubara et al. (1990)</a> identified a homozygous 985A-G transition which resulted in a lys304-to-glu substitution (K304E; <a href="/entry/607008#0001">607008.0001</a>) in the mature protein. These patients were unrelated, suggesting a high incidence of this abnormality among Caucasian patients. The change was not found in 20 healthy Caucasian and 6 healthy Japanese subjects. <a href="#17" class="mim-tip-reference" title="Matsubara, Y., Narisawa, K., Miyabayashi, S., Tada, K., Coates, P. M., Bachmann, C., Elsas, L. J., II, Pollitt, R. J., Rhead, W. J., Roe, C. R. <strong>Identification of a common mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency.</strong> Biochem. Biophys. Res. Commun. 171: 498-505, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2393404/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2393404</a>] [<a href="https://doi.org/10.1016/0006-291x(90)91421-n" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2393404">Matsubara et al. (1990)</a> found this point mutation in 31 of 34 (91%) mutant MCAD alleles. <a href="#33" class="mim-tip-reference" title="Yokota, I., Saijo, T., Vockley, J., Tanaka, K. <strong>Impaired tetramer assembly of variant medium-chain acyl-coenzyme A dehydrogenase with a glutamate or aspartate substitution for lysine 304 causing instability of the protein.</strong> J. Biol. Chem. 267: 26004-26010, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1361190/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1361190</a>]" pmid="1361190">Yokota et al. (1992)</a> estimated that 90% of MCAD cases involve the same mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2393404+1361190" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Andresen, B. S., Bross, P., Udvari, S., Kirk, J., Gray, G., Kmoch, S., Chamoles, N., Knudsen, I., Winter, V., Wilcken, B., Yokota, I., Hart, K., Packman, S., Harpey, J. P., Saudubray, J. M., Hale, D. E., Bolund, L., Kolvraa, S., Gregersen, N. <strong>The molecular basis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in compound heterozygous patients: is there correlation between genotype and phenotype?</strong> Hum. Molec. Genet. 6: 695-707, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9158144/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9158144</a>] [<a href="https://doi.org/10.1093/hmg/6.5.695" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9158144">Andresen et al. (1997)</a> determined the frequency of 14 known and 7 previously unknown non-G985 mutations in 52 families with MCAD deficiency not caused by homozygosity for the prevalent G985 mutation. They showed that none of the non-G985 mutations is prevalent. In 14 families in which they identified both disease-causing mutations, they correlated the mutations with clinical/biochemical data and found that a genotype/phenotype correlation in MCAD deficiency is not straightforward. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9158144" 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="#35" class="mim-tip-reference" title="Zschocke, J., Schulze, A., Lindner, M., Fiesel, S., Olgemoller, K., Hoffmann, G. F., Penzien, J., Ruiter, J. P. N., Wanders, R. J. A., Mayatepek, E. <strong>Molecular and functional characterization of mild MCAD deficiency.</strong> Hum. Genet. 108: 404-408, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11409868/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11409868</a>] [<a href="https://doi.org/10.1007/s004390100501" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11409868">Zschocke et al. (2001)</a> characterized the molecular defect in 4 patients with mild MCAD deficiency. In routine neonatal screening on the fifth day of life, they had been found to have abnormal acylcarnitine profiles indicative of MCAD deficiency. Two were of German origin and the other 2 were born to different consanguineous Turkish parents. In all 4, the clinical course and routine laboratory investigations up to the age of 6 months were unremarkable. Enzyme studies showed residual MCAD activities between those with classic MCAD deficiency and heterozygotes. In 2 cases, ACADM gene analysis revealed compound heterozygosity for the common K304E mutation (<a href="/entry/607008#0001">607008.0001</a>) and the 199T-C mutation (Y42H; <a href="/entry/607008#0011">607008.0011</a>), which they designated Y67H. In the 2 children of consanguineous parents, homozygosity was found for the gly267-to-arg mutation (G267R; <a href="/entry/607008#0003">607008.0003</a>) and the S220L mutation (<a href="/entry/607008#0012">607008.0012</a>), respectively. As in other metabolic disorders, the distinction between 'normal' and 'disease' in MCAD deficiency is blurred into a spectrum of enzyme deficiency states caused by different mutations in the ACADM gene potentially influenced by factors affecting intracellular protein processing. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11409868" 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="#28" class="mim-tip-reference" title="Tajima, G., Hara, K., Tsumura, M., Kagawa, R., Okada, S., Sakura, N., Hata, I., Shigematsu, Y., Kobayashi, M. <strong>Screening of MCAD deficiency in Japan: 16 years' experience of enzymatic and genetic evaluation.</strong> Molec. Genet. Metab. 119: 322-328, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27856190/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27856190</a>] [<a href="https://doi.org/10.1016/j.ymgme.2016.10.007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27856190">Tajima et al. (2016)</a> sequenced the ACADM gene in a cohort of 31 Japanese patients with MCAD deficiency and 7 Japanese carriers of MCAD deficiency. The most prevalent mutation was a 4-bp deletion (c.449_452delCTGA; <a href="/entry/607008#0016">607008.0016</a>) identified in 25 ACADM alleles of 22 subjects from 19 families. Other prevalent mutations in this cohort included R17H, G362E, R53C, and R281S. These 5 mutations accounted for 60% of the mutations identified in this patient cohort. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27856190" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#11" class="mim-tip-reference" title="Gregersen, N., Andresen, B. S., Corydon, M. J., Corydon, T. J., Olsen, R. K. J., Bolund, L., Bross, P. <strong>Mutation analysis in mitochondrial fatty acid oxidation defects: exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship.</strong> Hum. Mutat. 18: 169-189, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11524729/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11524729</a>] [<a href="https://doi.org/10.1002/humu.1174" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11524729">Gregersen et al. (2001)</a> reviewed the understanding of genotype-phenotype relationships in VLCAD, MCAD, and SCAD. They discussed both the structural implications of mutation type and the modulating effect of the mitochondrial protein quality control systems, composed of molecular chaperones and intracellular proteases. The realization that the effect of the monogene, such as disease-causing mutations in these 3 genes, may be modified by variations in other genes presages the need for profile analyses of additional genetic variations. They stated that the rapid development of mutation detection systems, such as chip technologies, made such profile analyses feasible. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11524729" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#20" class="mim-tip-reference" title="Pollitt, R. J., Leonard, J. V. <strong>Prospective surveillance study of medium chain acyl-CoA dehydrogenase deficiency in the UK.</strong> Arch. Dis. Child. 79: 116-119, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9797590/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9797590</a>] [<a href="https://doi.org/10.1136/adc.79.2.116" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9797590">Pollitt and Leonard (1998)</a> reported the findings of a prospective clinical study of MCAD deficiency in the UK. Between 1994 and 1996 there were 62 reported cases in 54 families, giving a minimum incidence of 4.5 in 100,000. In 46 cases, diagnosis followed an acute illness: 39 after a single episode, 6 after a second, and 1 after his third episode at the age of 12 years. The authors commented that the mortality and morbidity associated with MCAD deficiency remained high. Most patients have their first acute manifestation after the age of 3 months; this, the authors argued, supported the case for the introduction of a national neonatal screening program in the UK. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9797590" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a prospective tandem mass spectrometry screening of 930,078 blood spots from neonates in the U.S. population, <a href="#3" class="mim-tip-reference" title="Andresen, B. S., Dobrowolski, S. F., O'Reilly, L., Muenzer, J., McCandless, S. E., Frazier, D. M., Udvari, S., Bross, P., Knudsen, I., Banas, R., Chace, D. H., Engel, P., Naylor, E. W., Gregersen, N. <strong>Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency.</strong> Am. J. Hum. Genet. 68: 1408-1418, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11349232/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11349232</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11349232[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/10.1086/320602" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11349232">Andresen et al. (2001)</a> determined the frequency of MCAD deficiency to be 1 in 15,001. Mutation analysis showed that the MS/MS-based method is excellent for detection of MCAD deficiency. The frequency of the 985A-G (<a href="/entry/607008#0001">607008.0001</a>) mutant allele in newborns with a positive acylcarnitine profile is much lower than that observed in clinically affected patients. They identified a new mutation, 199T-C (<a href="/entry/607008#0011">607008.0011</a>), which had never been observed in patients with clinically manifest disease but was present in a large proportion of the acylcarnitine-positive samples. Overexpression experiments showed that 199T-C is a mild folding mutation that exhibits decreased levels of enzyme activity only under stringent conditions. A carrier frequency of 1 in 500 in the general population made the 199T-C mutation 1 of the 3 most prevalent mutations in the enzymes of fatty acid oxidation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11349232" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a meta-regression analysis of 43 studies reporting the frequency of the c.985A-G mutation in over 10 million individuals, <a href="#15" class="mim-tip-reference" title="Leal, J., Ades, A. E., Wordsworth, S., Dezateux, C. <strong>Regional differences in the frequency of the c.985A-G ACADM mutation: findings from a meta-regression of genotyping and screening studies.</strong> Clin. Genet. 85: 253-259, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23574375/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23574375</a>] [<a href="https://doi.org/10.1111/cge.12157" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23574375">Leal et al. (2014)</a> found significant variation in the frequency of the mutation across regions. The proportion of individuals homozygous for the mutation was highest in western Europe (4.1 per 100,000), followed by the New World, including the United States, Canada, and Australia (3.2), southern Europe (1.2), and eastern Europe (0.9). No cases with the mutation were identified in Asia or the Middle East. The findings were consistent with a founder effect originating in northern Europe. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23574375" 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="#Coates1985" class="mim-tip-reference" title="Coates, P. M., Hale, D. E., Stanley, C. A., Corkey, B. E., Cortner, J. A. <strong>Genetic deficiency of medium-chain acyl coenzyme A dehydrogenase: studies in cultured skin fibroblasts and peripheral mononuclear leukocytes.</strong> Pediat. Res. 19: 671-676, 1985.">Coates et al. (1985)</a>; <a href="#Duran1986" class="mim-tip-reference" title="Duran, M., Hofkamp, M., Rhead, W. J., Saudubray, J. M., Wadman, S. K. <strong>Sudden child death and 'healthy' affected family members with medium-chain acyl-coenzyme A dehydrogenase deficiency.</strong> Pediatrics 78: 1052-1057, 1986.">Duran et al. (1986)</a>
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Amendt, B. A., Rhead, W. J.
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<strong>Catalytic defect of medium-chain acyl-coenzyme A dehydrogenase deficiency: lack of both cofactor responsiveness and biochemical heterogeneity in eight patients.</strong>
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J. Clin. Invest. 76: 963-969, 1985.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3840178/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3840178</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3840178" 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/JCI112096" target="_blank">Full Text</a>]
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Andresen, B. S., Bross, P., Udvari, S., Kirk, J., Gray, G., Kmoch, S., Chamoles, N., Knudsen, I., Winter, V., Wilcken, B., Yokota, I., Hart, K., Packman, S., Harpey, J. P., Saudubray, J. M., Hale, D. E., Bolund, L., Kolvraa, S., Gregersen, N.
|
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<strong>The molecular basis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in compound heterozygous patients: is there correlation between genotype and phenotype?</strong>
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Hum. Molec. Genet. 6: 695-707, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9158144/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9158144</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9158144" 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/10.1093/hmg/6.5.695" target="_blank">Full Text</a>]
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Andresen, B. S., Dobrowolski, S. F., O'Reilly, L., Muenzer, J., McCandless, S. E., Frazier, D. M., Udvari, S., Bross, P., Knudsen, I., Banas, R., Chace, D. H., Engel, P., Naylor, E. W., Gregersen, N.
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<strong>Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency.</strong>
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Am. J. Hum. Genet. 68: 1408-1418, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11349232/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11349232</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11349232[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=11349232" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1086/320602" target="_blank">Full Text</a>]
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Bennett, M. J., Allison, F., Lowther, G. W., Gray, R. G. F., Johnston, D. I., Fitzsimmons, J. S., Manning, N. J., Pollitt, R. J.
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<strong>Prenatal diagnosis of medium-chain acyl-coenzyme A dehydrogenase deficiency.</strong>
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Prenatal Diag. 7: 135-141, 1987.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3575262/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3575262</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3575262" 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/pd.1970070210" target="_blank">Full Text</a>]
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Bennett, M. J., Coates, P. M., Hale, D. E., Millington, D. S., Pollitt, R. J., Rinaldo, P., Roe, C. R., Tanaka, K.
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<strong>Analysis of abnormal urinary metabolites in the newborn period in medium-chain acyl-CoA dehydrogenase deficiency.</strong>
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J. Inherit. Metab. Dis. 13: 707-715, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2246856/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2246856</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2246856" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/BF01799572" target="_blank">Full Text</a>]
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Clayton, P. T., Doig, M., Ghafari, S., Meaney, C., Taylor, C., Leonard, J. V., Morris, M., Johnson, A. W.
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<strong>Screening for medium chain acyl-CoA dehydrogenase deficiency using electrospray ionisation tandem mass spectrometry.</strong>
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Arch. Dis. Child. 79: 109-115, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9797589/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9797589</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9797589" 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/10.1136/adc.79.2.109" target="_blank">Full Text</a>]
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<a id="Coates1985" class="mim-anchor"></a>
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Coates, P. M., Hale, D. E., Stanley, C. A., Corkey, B. E., Cortner, J. A.
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<strong>Genetic deficiency of medium-chain acyl coenzyme A dehydrogenase: studies in cultured skin fibroblasts and peripheral mononuclear leukocytes.</strong>
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Pediat. Res. 19: 671-676, 1985.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4022673/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4022673</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4022673" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1203/00006450-198507000-00007" target="_blank">Full Text</a>]
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Colle, E., Mamer, O. A., Montgomery, J. A., Miller, J. D.
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<strong>Episodic hypoglycemia with psi-hydroxy fatty acid excretion.</strong>
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Pediat. Res. 17: 171-176, 1983.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6402754/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6402754</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6402754" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1203/00006450-198302000-00018" target="_blank">Full Text</a>]
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Divry, P., David, M., Gregersen, N., Kolvraa, S., Christensen, E., Collet, J. P., Dellamonica, C., Cotte, J.
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<strong>Dicarboxylic aciduria due to medium chain acyl CoA dehydrogenase defect: a cause of hypoglycemia in childhood.</strong>
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Acta Paediat. Scand. 72: 943-949, 1983.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6673498/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6673498</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6673498" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1651-2227.1983.tb09849.x" target="_blank">Full Text</a>]
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Duran, M., Hofkamp, M., Rhead, W. J., Saudubray, J. M., Wadman, S. K.
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<strong>Sudden child death and 'healthy' affected family members with medium-chain acyl-coenzyme A dehydrogenase deficiency.</strong>
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Pediatrics 78: 1052-1057, 1986.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3786030/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3786030</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3786030" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Gregersen, N., Andresen, B. S., Corydon, M. J., Corydon, T. J., Olsen, R. K. J., Bolund, L., Bross, P.
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<strong>Mutation analysis in mitochondrial fatty acid oxidation defects: exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship.</strong>
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Hum. Mutat. 18: 169-189, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11524729/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11524729</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11524729" 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.1174" target="_blank">Full Text</a>]
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<p class="mim-text-font">
|
|
Gregersen, N., Lauritzen, R., Rasmussen, K.
|
|
<strong>Suberylglycine excretion in urine from a patient with dicarboxylic aciduria.</strong>
|
|
Clin. Chim. Acta 70: 417-425, 1976.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/947635/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">947635</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=947635" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0009-8981(76)90355-7" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="13" class="mim-anchor"></a>
|
|
<a id="Iafolla1994" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Iafolla, A. K., Thompson, R. J., Jr., Roe, C. R.
|
|
<strong>Medium-chain acyl-coenzyme A dehydrogenase deficiency: clinical course in 120 affected children.</strong>
|
|
J. Pediat. 124: 409-415, 1994.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8120710/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8120710</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8120710" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/s0022-3476(94)70363-9" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="14" class="mim-anchor"></a>
|
|
<a id="Kolvraa1982" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kolvraa, S., Gregersen, N., Christensen, E., Hobolth, N.
|
|
<strong>In vitro fibroblast studies in a patient with C6-C10-dicarboxylic aciduria: evidence for a defect in general acyl-CoA dehydrogenase.</strong>
|
|
Clin. Chim. Acta 126: 53-67, 1982.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7172449/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7172449</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7172449" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0009-8981(82)90361-8" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="15" class="mim-anchor"></a>
|
|
<a id="Leal2014" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Leal, J., Ades, A. E., Wordsworth, S., Dezateux, C.
|
|
<strong>Regional differences in the frequency of the c.985A-G ACADM mutation: findings from a meta-regression of genotyping and screening studies.</strong>
|
|
Clin. Genet. 85: 253-259, 2014.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23574375/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23574375</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23574375" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1111/cge.12157" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="16" class="mim-anchor"></a>
|
|
<a id="Matsubara1986" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Matsubara, Y., Kraus, J. P., Yang-Feng, T. L., Francke, U., Rosenberg, L. E., Tanaka, K.
|
|
<strong>Molecular cloning of cDNAs encoding rat and human medium-chain acyl-CoA dehydrogenase and assignment of the gene to human chromosome 1.</strong>
|
|
Proc. Nat. Acad. Sci. 83: 6543-6547, 1986.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3462713/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3462713</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3462713" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1073/pnas.83.17.6543" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="17" class="mim-anchor"></a>
|
|
<a id="Matsubara1990" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Matsubara, Y., Narisawa, K., Miyabayashi, S., Tada, K., Coates, P. M., Bachmann, C., Elsas, L. J., II, Pollitt, R. J., Rhead, W. J., Roe, C. R.
|
|
<strong>Identification of a common mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency.</strong>
|
|
Biochem. Biophys. Res. Commun. 171: 498-505, 1990.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2393404/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2393404</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2393404" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0006-291x(90)91421-n" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="18" class="mim-anchor"></a>
|
|
<a id="Naylor1978" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Naylor, E. W., Mosovich, L. L., Guthrie, R., Evans, J. E., Tieckelmann, H.
|
|
<strong>Intermittent dicarboxylic aciduria and hypoglycemia in two siblings: an apparent defect in beta-oxidation of fatty acids. (Abstract)</strong>
|
|
Am. J. Hum. Genet. 30: 35A only, 1978.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="19" class="mim-anchor"></a>
|
|
<a id="Onkenhout2001" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Onkenhout, W., Venizelos, V., Scholte, H. R., De Klerk, J. B. C., Poorthuis, B. J. H. M.
|
|
<strong>Intermediates of unsaturated fatty acid oxidation are incorporated in triglycerides but not in phospholipids in tissues from patients with mitochondrial beta-oxidation defects.</strong>
|
|
J. Inherit. Metab. Dis. 24: 337-344, 2001.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11486898/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11486898</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11486898" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1023/a:1010592232317" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="20" class="mim-anchor"></a>
|
|
<a id="Pollitt1998" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Pollitt, R. J., Leonard, J. V.
|
|
<strong>Prospective surveillance study of medium chain acyl-CoA dehydrogenase deficiency in the UK.</strong>
|
|
Arch. Dis. Child. 79: 116-119, 1998.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9797590/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9797590</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9797590" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1136/adc.79.2.116" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="21" class="mim-anchor"></a>
|
|
<a id="Rasanen1971" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Rasanen, O., Korhonen, M., Simila, S., Autere, T., Hakosalo, J.
|
|
<strong>Fatal familial steatosis of the liver and kidney in two siblings.</strong>
|
|
Z. Kinderheilk. 110: 267-275, 1971.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5567005/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5567005</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5567005" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/BF00440186" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="22" class="mim-anchor"></a>
|
|
<a id="Rhead1983" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Rhead, W. J., Amendt, B. A., Fritchman, K. S., Felts, S. J.
|
|
<strong>Dicarboxylic aciduria: deficient 1-(14)C-octanoate oxidation and medium-chain acyl-CoA dehydrogenase in fibroblasts.</strong>
|
|
Science 221: 73-75, 1983.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6857268/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6857268</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6857268" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1126/science.6857268" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="23" class="mim-anchor"></a>
|
|
<a id="Rinaldo1988" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Rinaldo, P., O'Shea, J. J., Coates, P. M., Hale, D. E., Stanley, C. A., Tanaka, K.
|
|
<strong>Medium-chain acyl-CoA dehydrogenase deficiency: diagnosis by stable-isotope dilution measurement of urinary n-hexanoylglycine and 3-phenylpropionylglycine.</strong>
|
|
New Eng. J. Med. 319: 1308-1313, 1988. Note: Erratum: New Eng. J. Med. 320: 1227 only, 1989.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3054550/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3054550</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3054550" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1056/NEJM198811173192003" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="24" class="mim-anchor"></a>
|
|
<a id="Roe1986" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Roe, C. R., Millington, D. S., Maltby, D. A., Kinnebrew, P.
|
|
<strong>Recognition of medium-chain acyl-CoA-dehydrogenase deficiency in asymptomatic siblings of children dying of sudden infant death or Reye-like syndromes.</strong>
|
|
J. Pediat. 108: 13-18, 1986.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3944676/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3944676</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3944676" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/s0022-3476(86)80762-4" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="25" class="mim-anchor"></a>
|
|
<a id="Santer1990" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Santer, R., Schmidt-Sommerfeld, E., Leung, Y. K., Fischer, J. E., Lebenthal, E.
|
|
<strong>Medium-chain acyl CoA dehydrogenase deficiency: electron microscopic differentiation from Reye syndrome.</strong>
|
|
Europ. J. Pediat. 150: 111-114, 1990.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2279505/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2279505</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2279505" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/BF02072051" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="26" class="mim-anchor"></a>
|
|
<a id="Simila1984" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Simila, S., von Wendt, L., Ruostesuo, J., Gregersen, N.
|
|
<strong>Nonketotic C6-C10-dicarboxylic aciduria presenting as familial hepatic steatosis. (Letter)</strong>
|
|
Am. J. Med. Genet. 18: 543-545, 1984.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6476011/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6476011</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6476011" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/ajmg.1320180323" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="27" class="mim-anchor"></a>
|
|
<a id="Stanley1983" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Stanley, C. A., Hale, D. E., Coates, P. M., Hall, C. L., Corkey, B. E., Yang, W., Kelley, R. I., Gonzales, E. L., Williamson, J. R., Baker, L.
|
|
<strong>Medium-chain acyl-CoA dehydrogenase deficiency in children with non-ketotic hypoglycemia and low carnitine levels.</strong>
|
|
Pediat. Res. 17: 877-884, 1983.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6646897/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6646897</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6646897" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1203/00006450-198311000-00008" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="28" class="mim-anchor"></a>
|
|
<a id="Tajima2016" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Tajima, G., Hara, K., Tsumura, M., Kagawa, R., Okada, S., Sakura, N., Hata, I., Shigematsu, Y., Kobayashi, M.
|
|
<strong>Screening of MCAD deficiency in Japan: 16 years' experience of enzymatic and genetic evaluation.</strong>
|
|
Molec. Genet. Metab. 119: 322-328, 2016.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27856190/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27856190</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27856190" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/j.ymgme.2016.10.007" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="29" class="mim-anchor"></a>
|
|
<a id="Taubman1987" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Taubman, B., Hale, D. E., Kelley, R. I.
|
|
<strong>Familial Reye-like syndrome: a presentation of medium-chain acyl-coenzyme A dehydrogenase deficiency.</strong>
|
|
Pediatrics 79: 382-385, 1987.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3822638/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3822638</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3822638" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="30" class="mim-anchor"></a>
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<a id="Treem1989" class="mim-anchor"></a>
|
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<div class="">
|
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<p class="mim-text-font">
|
|
Treem, W. R., Stanley, C. A., Goodman, S. I.
|
|
<strong>Medium-chain acyl-CoA dehydrogenase deficiency: metabolic effects and therapeutic efficacy of long-term L-carnitine supplementation.</strong>
|
|
J. Inherit. Metab. Dis. 12: 112-119, 1989.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2502671/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2502671</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2502671" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/BF01800712" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="31" class="mim-anchor"></a>
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<a id="Van Hove1993" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Van Hove, J. L. K., Zhang, W., Kahler, S. G., Roe, C. R., Chen, Y.-T., Terada, N., Chace, D. H., Iafolla, A. K., Ding, J.-H., Millington, D. S.
|
|
<strong>Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: diagnosis by acylcarnitine analysis in blood.</strong>
|
|
Am. J. Hum. Genet. 52: 958-966, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8488845/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8488845</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8488845" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="32" class="mim-anchor"></a>
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<a id="von Dobeln1990" class="mim-anchor"></a>
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<div class="">
|
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<p class="mim-text-font">
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von Dobeln, U., Venizelos, N., Hagenfeldt, L.
|
|
<strong>Retrospective diagnosis of 3-hydroxydicarboxylic aciduria by analysis of filter paper blood samples.</strong>
|
|
J. Inherit. Metab. Dis. 13: 165-168, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2143242/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2143242</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2143242" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/BF01799680" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="33" class="mim-anchor"></a>
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<a id="Yokota1992" class="mim-anchor"></a>
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<div class="">
|
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<p class="mim-text-font">
|
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Yokota, I., Saijo, T., Vockley, J., Tanaka, K.
|
|
<strong>Impaired tetramer assembly of variant medium-chain acyl-coenzyme A dehydrogenase with a glutamate or aspartate substitution for lysine 304 causing instability of the protein.</strong>
|
|
J. Biol. Chem. 267: 26004-26010, 1992.
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|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1361190/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1361190</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1361190" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="34" class="mim-anchor"></a>
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<a id="Ziadeh1995" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Ziadeh, R., Hoffman, E. P., Finegold, D. N., Hoop, R. C., Brackett, J. C., Strauss, A. W., Naylor, E. W.
|
|
<strong>Medium chain acyl-CoA dehydrogenase deficiency in Pennsylvania: neonatal screening shows high incidence and unexpected mutation frequencies.</strong>
|
|
Pediat. Res. 37: 675-678, 1995.
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|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7603790/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7603790</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7603790" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1203/00006450-199505000-00021" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="35" class="mim-anchor"></a>
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<a id="Zschocke2001" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Zschocke, J., Schulze, A., Lindner, M., Fiesel, S., Olgemoller, K., Hoffmann, G. F., Penzien, J., Ruiter, J. P. N., Wanders, R. J. A., Mayatepek, E.
|
|
<strong>Molecular and functional characterization of mild MCAD deficiency.</strong>
|
|
Hum. Genet. 108: 404-408, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11409868/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11409868</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11409868" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s004390100501" target="_blank">Full Text</a>]
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</p>
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</ol>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</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 : 08/12/2021
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 10/23/2014<br>Cassandra L. Kniffin - reorganized : 6/13/2002<br>Victor A. McKusick - updated : 10/4/2001<br>Ada Hamosh - updated : 8/29/2001<br>Victor A. McKusick - updated : 6/20/2001<br>Victor A. McKusick - updated : 5/31/2001<br>Paul Brennan - updated : 4/12/2000<br>Victor A. McKusick - updated : 2/16/2000<br>Victor A. McKusick - updated : 4/12/1999<br>Victor A. McKusick - updated : 2/19/1998<br>Victor A. McKusick - updated : 6/23/1997
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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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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</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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Victor A. McKusick : 6/2/1986
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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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<a id="editHistory" class="mim-anchor"></a>
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 04/04/2024
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</span>
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</div>
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</div>
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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 : 08/12/2021<br>carol : 10/24/2014<br>mcolton : 10/24/2014<br>ckniffin : 10/23/2014<br>carol : 4/22/2013<br>carol : 3/23/2012<br>carol : 4/22/2011<br>terry : 9/9/2010<br>ckniffin : 8/25/2006<br>terry : 4/18/2005<br>carol : 6/13/2002<br>ckniffin : 6/13/2002<br>ckniffin : 6/13/2002<br>ckniffin : 6/13/2002<br>carol : 4/30/2002<br>carol : 10/4/2001<br>cwells : 9/14/2001<br>cwells : 9/14/2001<br>cwells : 9/6/2001<br>cwells : 9/4/2001<br>terry : 8/29/2001<br>carol : 7/5/2001<br>carol : 7/5/2001<br>cwells : 7/3/2001<br>terry : 6/20/2001<br>cwells : 6/15/2001<br>cwells : 6/7/2001<br>cwells : 6/1/2001<br>terry : 5/31/2001<br>alopez : 4/12/2000<br>mgross : 3/10/2000<br>terry : 2/16/2000<br>carol : 4/12/1999<br>carol : 6/26/1998<br>mark : 2/20/1998<br>mark : 2/19/1998<br>terry : 2/12/1998<br>terry : 6/23/1997<br>terry : 6/23/1997<br>terry : 6/18/1997<br>alopez : 6/10/1997<br>carol : 8/23/1996<br>marlene : 8/2/1996<br>terry : 7/26/1996<br>carol : 7/13/1996<br>mark : 6/17/1996<br>terry : 6/11/1996<br>mark : 4/19/1996<br>terry : 4/15/1996<br>mimadm : 11/12/1995<br>mark : 9/13/1995<br>carol : 11/2/1994<br>terry : 10/11/1994<br>jason : 6/27/1994<br>davew : 6/1/1994
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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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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>#</strong> 201450
|
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</span>
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</h3>
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</div>
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<div>
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<h3>
|
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<span class="mim-font">
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|
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ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div >
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
|
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<h4>
|
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<span class="mim-font">
|
|
ACADM DEFICIENCY<br />
|
|
MCAD DEFICIENCY<br />
|
|
MCADH DEFICIENCY<br />
|
|
CARNITINE DEFICIENCY SECONDARY TO MEDIUM-CHAIN ACYL-CoA DEHYDROGENASE 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>
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<br />
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</div>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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|
<strong>SNOMEDCT:</strong> 128596003;
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<strong>ICD10CM:</strong> E71.311;
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<strong>ORPHA:</strong> 42;
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<strong>DO:</strong> 0080153;
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</span>
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</p>
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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">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
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</span>
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</h4>
|
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<div>
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
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<thead>
|
|
<tr class="active">
|
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<th>
|
|
Location
|
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</th>
|
|
<th>
|
|
Phenotype
|
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</th>
|
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<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
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</tr>
|
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</thead>
|
|
<tbody>
|
|
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<tr>
|
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<td>
|
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<span class="mim-font">
|
|
1p31.1
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
Acyl-CoA dehydrogenase, medium chain, deficiency of
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
201450
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
ACADM
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
607008
|
|
</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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<div>
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<br />
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</div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
|
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</h4>
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<span class="mim-text-font">
|
|
<p>A number sign (#) is used with this entry because medium-chain acyl-CoA dehydrogenase deficiency (ACADMD) is caused by homozygous or compound heterozygous mutation in the medium-chain acyl-CoA dehydrogenase gene (ACADM; 607008) on chromosome 1p31.</p>
|
|
</span>
|
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<div>
|
|
<br />
|
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</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</span>
|
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</h4>
|
|
</div>
|
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<span class="mim-text-font">
|
|
<p>Inherited deficiency of medium-chain acyl-CoA dehydrogenase (ACADMD) is characterized by intolerance to prolonged fasting, recurrent episodes of hypoglycemic coma with medium-chain dicarboxylic aciduria, impaired ketogenesis, and low plasma and tissue carnitine levels. The disorder may be severe, and even fatal, in young patients (Matsubara et al., 1986). </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Clinical Features</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<span class="mim-text-font">
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<p>Gregersen et al. (1976) first described MCADH deficiency in a patient who presented with unexplained episodes of lethargy and unconsciousness and C6-C10 dicarboxylic aciduria. Naylor et al. (1978) studied 2 early-adolescent sisters who suffered from intermittent hypoglycemia, lethargy, and coma associated with peripheral lobular fatty changes in the liver. During hypoglycemia, massive C6-C14 dicarboxylic aciduria was demonstrated by gas chromatography. Adipic and monounsaturated sebacic, seburic, ozeleic acids were among those elevated in urine and serum. The workers suggested that because of a defect in beta-oxidation of fatty acids of medium chain length, omega oxidation to dicarboxylic acids had occurred through an alternative pathway. Probably identical cases have been reported, although not in full detail. </p><p>Colle et al. (1983) reported 2 children with reversible episodes of hypoglycemia and 'Reye syndrome' who during the acute phases showed urinary excretion of dicarboxylic acids and psi-hydroxy fatty acids. Rhead et al. (1983) measured defective medium-chain acyl-CoA dehydrogenase in one of the patients of Colle et al. (1983), thus supporting the findings of Kolvraa et al. (1982) and Divry et al. (1983) that acyl-CoA dehydrogenase deficiency can be responsible for dicarboxylic aciduria. </p><p>In a Finnish family, Rasanen et al. (1971) reported 2 sibs with hepatic steatosis (228100). Studies of a subsequently born affected sib showed changes consistent with nonketotic C6-C10-dicarboxylic aciduria (Simila et al., 1984). Stanley et al. (1983) reported 3 children in 2 families who presented in early childhood with episodes of illness associated with fasting and resembling Reye syndrome: coma, hypoglycemia, hyperammonemia, and fatty liver. Deficiency of medium-chain acyl-CoA dehydrogenase was demonstrated. The authors concluded that the carnitine deficiency was a secondary phenomenon and suggested that other patients with 'systemic carnitine deficiency' (see 212140) who fail to respond to carnitine therapy may have defects in fatty acid oxidation of this type. </p><p>Roe et al. (1986) identified this defect in mitochondrial beta-oxidation in 2 asymptomatic sibs in a family in which 2 previous infant deaths had occurred: one attributed to sudden infant death syndrome and one to Reye syndrome. Recognition of MCAD deficiency in one of these infants and in a surviving sib was accomplished by detection of octanoylcarnitine. </p><p>Matsubara et al. (1986) stated that at least 24 cases of MCADH deficiency had been reported. Taubman et al. (1987) diagnosed MCADH deficiency in a 20-month-old girl with a history of 2 sibs who died of an encephalopathy diagnosed as Reye syndrome. </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Biochemical Features</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Amendt and Rhead (1985) studied the original patient described by Gregersen et al. (1976) and 7 others and found no biochemical heterogeneity. The patients showed elevated urinary excretion of straight-chain C6-C10-omega-dicarboxylic acids. These are formed by omega-oxidation of accumulated C10-C12-monocarboxylic acids, which are then shortened by beta-oxidation to medium-chain length. The isolated excretion of straight-chain C6-C10-dicarboxylic acids without associated ketosis is consistent with the defective mitochondrial beta-oxidation produced by MCADH deficiency. </p><p>Onkenhout et al. (2001) determined the fatty acid composition of liver, skeletal muscle, and heart obtained postmortem from patients with deficiency of 1 of 3 types of acyl-CoA dehydrogenase: medium-chain, multiple (MADD; 231680), and very long-chain (VLCADD; 201475). Increased amounts of multiple unsaturated fatty acids were found exclusively in the triglyceride fraction. They could not be detected in the free fatty acid or phospholipid fractions. Onkenhout et al. (2001) concluded that intermediates of unsaturated fatty acid oxidation that accumulate as a consequence of MCAD, MADD, and VLCADD are transported to the endoplasmic reticulum for esterification into neutral glycerolipids. The pattern of accumulation is characteristic for each disease, which makes fatty acid analysis of total lipid of postmortem tissues a useful tool in the detection of mitochondrial fatty acid oxidation defects in patients who have died unexpectedly. </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>Diagnosis</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Rinaldo et al. (1988) found that measurement of urinary hexanoylglycine and phenylpropionylglycine by a method of stable-isotope dilution is a fast and reliable method for diagnosis of MCAD deficiency. It can be applied to random urine specimens without pretreatment such as fasting. </p><p>Bennett et al. (1990) identified urinary metabolites useful in detecting MCAD deficiency in the newborn period. They suggested that this would be useful in the screening of later-born sibs of cases of the following: proven MCAD deficiency, Reye syndrome (deceased and not tested for MCAD deficiency), sudden infant death syndrome under 1 year of age, sudden unexpected death between ages 1 and 4, and hypoglycemia of unknown origin. Two of the 5 patients studied by von Dobeln et al. (1990) had elder sibs who had died unexpectedly in early infancy. In 3 of the 5 patients and in both deceased sibs, stored filter paper blood samples obtained from the patients and their deceased sibs for purposes of neonatal screening showed elevated levels of 3-hydroxy fatty acids. </p><p>Santer et al. (1990) suggested that there are distinctive mitochondrial abnormalities on electron microscopy that rule out Reye syndrome and are suggestive of a disorder of mitochondrial fatty acid oxidation: in addition to large-droplet steatosis, there are an electron-dense mitochondrial matrix and a widened space of inner mitochondrial membranes. </p><p>Van Hove et al. (1993) demonstrated that the diagnosis of MCAD deficiency, including presymptomatic neonatal recognition, can be made reliably through the analysis of acylcarnitines in blood. Tandem mass spectrometry is a convenient method for fast and accurate determination. </p><p>Iafolla et al. (1994) suggested that MCAD deficiency satisfies the criteria for newborn population screening. The authors collated medical data on 120 patients with MCAD deficiency referred to Duke University Medical Center for biochemical testing. They found that 88% were initially referred because of clinical illness or sudden death. Viral infections precipitated the illness in 85% of cases. Only 12% were initially suspected of having MCAD deficiency. Other initial diagnoses included Reye syndrome, SIDS, idiopathic hypoglycemia, and carnitine deficiency. There were 55 male and 65 female patients ranging from birth to 19 years of age; 118 were white. Twenty-three children died before the diagnosis was made, indicating that unidentified patients with this disorder have a risk of sudden death in early childhood. Furthermore, they found that survivors have a risk of developmental disability, chronic muscle weakness, failure to thrive, and 'cerebral palsy.' Among the sibs of the patients, 23 living sibs were found to be affected on screening and 14 had died. Five carrier parents had been symptomatic in childhood. </p><p>Ziadeh et al. (1995) reported the findings in a prospective neonatal screening program in Pennsylvania using tandem mass spectrometry. From the first 80,371 newborns screened, they found 9 babies with MCAD (1/8930), plus 2 additional newborns, screened because of a previously known family history. Molecular analysis showed that 56% of the patients were compound heterozygotes for the 985A-G mutation (K304E; 607008.0001), commonly referred to as G985, and a second mutation. </p><p>Clayton et al. (1998) reported their experience in diagnosing MCAD deficiency using the technique of electrospray ionization tandem mass spectrometry (ESI-MS/MS) analysis of butylated carnitine species from dried blood spots. The authors concluded that if neonatal screening was undertaken at 7 to 10 days of age, this technique was both sensitive and specific and would therefore be suitable for a national neonatal screening program. </p><p><strong><em>Prenatal Diagnosis</em></strong></p><p>
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Bennett et al. (1987) succeeded in prenatal diagnosis by demonstration of marked reduction in octanoate oxidation in cultured amniotic cells. The diagnosis was confirmed by enzyme assay of skin fibroblasts from the aborted fetus. </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Clinical Management</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In the family reported by Roe et al. (1986), early treatment with L-carnitine was important to the survivors. Breast feeding may be protective in MCAD deficiency. Treem et al. (1989) found that supplementation with carnitine was ineffective. They stressed that avoidance of fasting and prompt institution of glucose supplementation in situations when oral intake is interrupted remain the mainstays of therapy. </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Inheritance</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The transmission pattern of MCAD deficiency in the families reported by Matsubara et al. (1990) was consistent with autosomal recessive inheritance. </p>
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</span>
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<div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>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 9 patients with MCAD deficiency, Matsubara et al. (1990) identified a homozygous 985A-G transition which resulted in a lys304-to-glu substitution (K304E; 607008.0001) in the mature protein. These patients were unrelated, suggesting a high incidence of this abnormality among Caucasian patients. The change was not found in 20 healthy Caucasian and 6 healthy Japanese subjects. Matsubara et al. (1990) found this point mutation in 31 of 34 (91%) mutant MCAD alleles. Yokota et al. (1992) estimated that 90% of MCAD cases involve the same mutation. </p><p>Andresen et al. (1997) determined the frequency of 14 known and 7 previously unknown non-G985 mutations in 52 families with MCAD deficiency not caused by homozygosity for the prevalent G985 mutation. They showed that none of the non-G985 mutations is prevalent. In 14 families in which they identified both disease-causing mutations, they correlated the mutations with clinical/biochemical data and found that a genotype/phenotype correlation in MCAD deficiency is not straightforward. </p><p>Zschocke et al. (2001) characterized the molecular defect in 4 patients with mild MCAD deficiency. In routine neonatal screening on the fifth day of life, they had been found to have abnormal acylcarnitine profiles indicative of MCAD deficiency. Two were of German origin and the other 2 were born to different consanguineous Turkish parents. In all 4, the clinical course and routine laboratory investigations up to the age of 6 months were unremarkable. Enzyme studies showed residual MCAD activities between those with classic MCAD deficiency and heterozygotes. In 2 cases, ACADM gene analysis revealed compound heterozygosity for the common K304E mutation (607008.0001) and the 199T-C mutation (Y42H; 607008.0011), which they designated Y67H. In the 2 children of consanguineous parents, homozygosity was found for the gly267-to-arg mutation (G267R; 607008.0003) and the S220L mutation (607008.0012), respectively. As in other metabolic disorders, the distinction between 'normal' and 'disease' in MCAD deficiency is blurred into a spectrum of enzyme deficiency states caused by different mutations in the ACADM gene potentially influenced by factors affecting intracellular protein processing. </p><p>Tajima et al. (2016) sequenced the ACADM gene in a cohort of 31 Japanese patients with MCAD deficiency and 7 Japanese carriers of MCAD deficiency. The most prevalent mutation was a 4-bp deletion (c.449_452delCTGA; 607008.0016) identified in 25 ACADM alleles of 22 subjects from 19 families. Other prevalent mutations in this cohort included R17H, G362E, R53C, and R281S. These 5 mutations accounted for 60% of the mutations identified in this patient cohort. </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>Genotype/Phenotype Correlations</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>Gregersen et al. (2001) reviewed the understanding of genotype-phenotype relationships in VLCAD, MCAD, and SCAD. They discussed both the structural implications of mutation type and the modulating effect of the mitochondrial protein quality control systems, composed of molecular chaperones and intracellular proteases. The realization that the effect of the monogene, such as disease-causing mutations in these 3 genes, may be modified by variations in other genes presages the need for profile analyses of additional genetic variations. They stated that the rapid development of mutation detection systems, such as chip technologies, made such profile analyses feasible. </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>Population Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Pollitt and Leonard (1998) reported the findings of a prospective clinical study of MCAD deficiency in the UK. Between 1994 and 1996 there were 62 reported cases in 54 families, giving a minimum incidence of 4.5 in 100,000. In 46 cases, diagnosis followed an acute illness: 39 after a single episode, 6 after a second, and 1 after his third episode at the age of 12 years. The authors commented that the mortality and morbidity associated with MCAD deficiency remained high. Most patients have their first acute manifestation after the age of 3 months; this, the authors argued, supported the case for the introduction of a national neonatal screening program in the UK. </p><p>In a prospective tandem mass spectrometry screening of 930,078 blood spots from neonates in the U.S. population, Andresen et al. (2001) determined the frequency of MCAD deficiency to be 1 in 15,001. Mutation analysis showed that the MS/MS-based method is excellent for detection of MCAD deficiency. The frequency of the 985A-G (607008.0001) mutant allele in newborns with a positive acylcarnitine profile is much lower than that observed in clinically affected patients. They identified a new mutation, 199T-C (607008.0011), which had never been observed in patients with clinically manifest disease but was present in a large proportion of the acylcarnitine-positive samples. Overexpression experiments showed that 199T-C is a mild folding mutation that exhibits decreased levels of enzyme activity only under stringent conditions. A carrier frequency of 1 in 500 in the general population made the 199T-C mutation 1 of the 3 most prevalent mutations in the enzymes of fatty acid oxidation. </p><p>In a meta-regression analysis of 43 studies reporting the frequency of the c.985A-G mutation in over 10 million individuals, Leal et al. (2014) found significant variation in the frequency of the mutation across regions. The proportion of individuals homozygous for the mutation was highest in western Europe (4.1 per 100,000), followed by the New World, including the United States, Canada, and Australia (3.2), southern Europe (1.2), and eastern Europe (0.9). No cases with the mutation were identified in Asia or the Middle East. The findings were consistent with a founder effect originating in northern Europe. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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Coates et al. (1985); Duran et al. (1986)
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Amendt, B. A., Rhead, W. J.
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<strong>Catalytic defect of medium-chain acyl-coenzyme A dehydrogenase deficiency: lack of both cofactor responsiveness and biochemical heterogeneity in eight patients.</strong>
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J. Clin. Invest. 76: 963-969, 1985.
|
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[PubMed: 3840178]
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[Full Text: https://doi.org/10.1172/JCI112096]
|
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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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Andresen, B. S., Bross, P., Udvari, S., Kirk, J., Gray, G., Kmoch, S., Chamoles, N., Knudsen, I., Winter, V., Wilcken, B., Yokota, I., Hart, K., Packman, S., Harpey, J. P., Saudubray, J. M., Hale, D. E., Bolund, L., Kolvraa, S., Gregersen, N.
|
|
<strong>The molecular basis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in compound heterozygous patients: is there correlation between genotype and phenotype?</strong>
|
|
Hum. Molec. Genet. 6: 695-707, 1997.
|
|
|
|
|
|
[PubMed: 9158144]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/6.5.695]
|
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</p>
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</li>
|
|
|
|
<li>
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<p class="mim-text-font">
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Andresen, B. S., Dobrowolski, S. F., O'Reilly, L., Muenzer, J., McCandless, S. E., Frazier, D. M., Udvari, S., Bross, P., Knudsen, I., Banas, R., Chace, D. H., Engel, P., Naylor, E. W., Gregersen, N.
|
|
<strong>Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency.</strong>
|
|
Am. J. Hum. Genet. 68: 1408-1418, 2001.
|
|
|
|
|
|
[PubMed: 11349232]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1086/320602]
|
|
|
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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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Bennett, M. J., Allison, F., Lowther, G. W., Gray, R. G. F., Johnston, D. I., Fitzsimmons, J. S., Manning, N. J., Pollitt, R. J.
|
|
<strong>Prenatal diagnosis of medium-chain acyl-coenzyme A dehydrogenase deficiency.</strong>
|
|
Prenatal Diag. 7: 135-141, 1987.
|
|
|
|
|
|
[PubMed: 3575262]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/pd.1970070210]
|
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|
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</p>
|
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</li>
|
|
|
|
<li>
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<p class="mim-text-font">
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Bennett, M. J., Coates, P. M., Hale, D. E., Millington, D. S., Pollitt, R. J., Rinaldo, P., Roe, C. R., Tanaka, K.
|
|
<strong>Analysis of abnormal urinary metabolites in the newborn period in medium-chain acyl-CoA dehydrogenase deficiency.</strong>
|
|
J. Inherit. Metab. Dis. 13: 707-715, 1990.
|
|
|
|
|
|
[PubMed: 2246856]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF01799572]
|
|
|
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</p>
|
|
</li>
|
|
|
|
<li>
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<p class="mim-text-font">
|
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Clayton, P. T., Doig, M., Ghafari, S., Meaney, C., Taylor, C., Leonard, J. V., Morris, M., Johnson, A. W.
|
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<strong>Screening for medium chain acyl-CoA dehydrogenase deficiency using electrospray ionisation tandem mass spectrometry.</strong>
|
|
Arch. Dis. Child. 79: 109-115, 1998.
|
|
|
|
|
|
[PubMed: 9797589]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/adc.79.2.109]
|
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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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Coates, P. M., Hale, D. E., Stanley, C. A., Corkey, B. E., Cortner, J. A.
|
|
<strong>Genetic deficiency of medium-chain acyl coenzyme A dehydrogenase: studies in cultured skin fibroblasts and peripheral mononuclear leukocytes.</strong>
|
|
Pediat. Res. 19: 671-676, 1985.
|
|
|
|
|
|
[PubMed: 4022673]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1203/00006450-198507000-00007]
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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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Colle, E., Mamer, O. A., Montgomery, J. A., Miller, J. D.
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|
<strong>Episodic hypoglycemia with psi-hydroxy fatty acid excretion.</strong>
|
|
Pediat. Res. 17: 171-176, 1983.
|
|
|
|
|
|
[PubMed: 6402754]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1203/00006450-198302000-00018]
|
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</p>
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</li>
|
|
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<li>
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<p class="mim-text-font">
|
|
Divry, P., David, M., Gregersen, N., Kolvraa, S., Christensen, E., Collet, J. P., Dellamonica, C., Cotte, J.
|
|
<strong>Dicarboxylic aciduria due to medium chain acyl CoA dehydrogenase defect: a cause of hypoglycemia in childhood.</strong>
|
|
Acta Paediat. Scand. 72: 943-949, 1983.
|
|
|
|
|
|
[PubMed: 6673498]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1651-2227.1983.tb09849.x]
|
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
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Duran, M., Hofkamp, M., Rhead, W. J., Saudubray, J. M., Wadman, S. K.
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<strong>Sudden child death and 'healthy' affected family members with medium-chain acyl-coenzyme A dehydrogenase deficiency.</strong>
|
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Pediatrics 78: 1052-1057, 1986.
|
|
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[PubMed: 3786030]
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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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Gregersen, N., Andresen, B. S., Corydon, M. J., Corydon, T. J., Olsen, R. K. J., Bolund, L., Bross, P.
|
|
<strong>Mutation analysis in mitochondrial fatty acid oxidation defects: exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship.</strong>
|
|
Hum. Mutat. 18: 169-189, 2001.
|
|
|
|
|
|
[PubMed: 11524729]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/humu.1174]
|
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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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Gregersen, N., Lauritzen, R., Rasmussen, K.
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<strong>Suberylglycine excretion in urine from a patient with dicarboxylic aciduria.</strong>
|
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Clin. Chim. Acta 70: 417-425, 1976.
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[PubMed: 947635]
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[Full Text: https://doi.org/10.1016/0009-8981(76)90355-7]
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</li>
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<p class="mim-text-font">
|
|
Iafolla, A. K., Thompson, R. J., Jr., Roe, C. R.
|
|
<strong>Medium-chain acyl-coenzyme A dehydrogenase deficiency: clinical course in 120 affected children.</strong>
|
|
J. Pediat. 124: 409-415, 1994.
|
|
|
|
|
|
[PubMed: 8120710]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0022-3476(94)70363-9]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kolvraa, S., Gregersen, N., Christensen, E., Hobolth, N.
|
|
<strong>In vitro fibroblast studies in a patient with C6-C10-dicarboxylic aciduria: evidence for a defect in general acyl-CoA dehydrogenase.</strong>
|
|
Clin. Chim. Acta 126: 53-67, 1982.
|
|
|
|
|
|
[PubMed: 7172449]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0009-8981(82)90361-8]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Leal, J., Ades, A. E., Wordsworth, S., Dezateux, C.
|
|
<strong>Regional differences in the frequency of the c.985A-G ACADM mutation: findings from a meta-regression of genotyping and screening studies.</strong>
|
|
Clin. Genet. 85: 253-259, 2014.
|
|
|
|
|
|
[PubMed: 23574375]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/cge.12157]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Matsubara, Y., Kraus, J. P., Yang-Feng, T. L., Francke, U., Rosenberg, L. E., Tanaka, K.
|
|
<strong>Molecular cloning of cDNAs encoding rat and human medium-chain acyl-CoA dehydrogenase and assignment of the gene to human chromosome 1.</strong>
|
|
Proc. Nat. Acad. Sci. 83: 6543-6547, 1986.
|
|
|
|
|
|
[PubMed: 3462713]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.83.17.6543]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Matsubara, Y., Narisawa, K., Miyabayashi, S., Tada, K., Coates, P. M., Bachmann, C., Elsas, L. J., II, Pollitt, R. J., Rhead, W. J., Roe, C. R.
|
|
<strong>Identification of a common mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency.</strong>
|
|
Biochem. Biophys. Res. Commun. 171: 498-505, 1990.
|
|
|
|
|
|
[PubMed: 2393404]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0006-291x(90)91421-n]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Naylor, E. W., Mosovich, L. L., Guthrie, R., Evans, J. E., Tieckelmann, H.
|
|
<strong>Intermittent dicarboxylic aciduria and hypoglycemia in two siblings: an apparent defect in beta-oxidation of fatty acids. (Abstract)</strong>
|
|
Am. J. Hum. Genet. 30: 35A only, 1978.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Onkenhout, W., Venizelos, V., Scholte, H. R., De Klerk, J. B. C., Poorthuis, B. J. H. M.
|
|
<strong>Intermediates of unsaturated fatty acid oxidation are incorporated in triglycerides but not in phospholipids in tissues from patients with mitochondrial beta-oxidation defects.</strong>
|
|
J. Inherit. Metab. Dis. 24: 337-344, 2001.
|
|
|
|
|
|
[PubMed: 11486898]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1023/a:1010592232317]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Pollitt, R. J., Leonard, J. V.
|
|
<strong>Prospective surveillance study of medium chain acyl-CoA dehydrogenase deficiency in the UK.</strong>
|
|
Arch. Dis. Child. 79: 116-119, 1998.
|
|
|
|
|
|
[PubMed: 9797590]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/adc.79.2.116]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Rasanen, O., Korhonen, M., Simila, S., Autere, T., Hakosalo, J.
|
|
<strong>Fatal familial steatosis of the liver and kidney in two siblings.</strong>
|
|
Z. Kinderheilk. 110: 267-275, 1971.
|
|
|
|
|
|
[PubMed: 5567005]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF00440186]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Rhead, W. J., Amendt, B. A., Fritchman, K. S., Felts, S. J.
|
|
<strong>Dicarboxylic aciduria: deficient 1-(14)C-octanoate oxidation and medium-chain acyl-CoA dehydrogenase in fibroblasts.</strong>
|
|
Science 221: 73-75, 1983.
|
|
|
|
|
|
[PubMed: 6857268]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1126/science.6857268]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Rinaldo, P., O'Shea, J. J., Coates, P. M., Hale, D. E., Stanley, C. A., Tanaka, K.
|
|
<strong>Medium-chain acyl-CoA dehydrogenase deficiency: diagnosis by stable-isotope dilution measurement of urinary n-hexanoylglycine and 3-phenylpropionylglycine.</strong>
|
|
New Eng. J. Med. 319: 1308-1313, 1988. Note: Erratum: New Eng. J. Med. 320: 1227 only, 1989.
|
|
|
|
|
|
[PubMed: 3054550]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1056/NEJM198811173192003]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Roe, C. R., Millington, D. S., Maltby, D. A., Kinnebrew, P.
|
|
<strong>Recognition of medium-chain acyl-CoA-dehydrogenase deficiency in asymptomatic siblings of children dying of sudden infant death or Reye-like syndromes.</strong>
|
|
J. Pediat. 108: 13-18, 1986.
|
|
|
|
|
|
[PubMed: 3944676]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0022-3476(86)80762-4]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Santer, R., Schmidt-Sommerfeld, E., Leung, Y. K., Fischer, J. E., Lebenthal, E.
|
|
<strong>Medium-chain acyl CoA dehydrogenase deficiency: electron microscopic differentiation from Reye syndrome.</strong>
|
|
Europ. J. Pediat. 150: 111-114, 1990.
|
|
|
|
|
|
[PubMed: 2279505]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF02072051]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Simila, S., von Wendt, L., Ruostesuo, J., Gregersen, N.
|
|
<strong>Nonketotic C6-C10-dicarboxylic aciduria presenting as familial hepatic steatosis. (Letter)</strong>
|
|
Am. J. Med. Genet. 18: 543-545, 1984.
|
|
|
|
|
|
[PubMed: 6476011]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ajmg.1320180323]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Stanley, C. A., Hale, D. E., Coates, P. M., Hall, C. L., Corkey, B. E., Yang, W., Kelley, R. I., Gonzales, E. L., Williamson, J. R., Baker, L.
|
|
<strong>Medium-chain acyl-CoA dehydrogenase deficiency in children with non-ketotic hypoglycemia and low carnitine levels.</strong>
|
|
Pediat. Res. 17: 877-884, 1983.
|
|
|
|
|
|
[PubMed: 6646897]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1203/00006450-198311000-00008]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Tajima, G., Hara, K., Tsumura, M., Kagawa, R., Okada, S., Sakura, N., Hata, I., Shigematsu, Y., Kobayashi, M.
|
|
<strong>Screening of MCAD deficiency in Japan: 16 years' experience of enzymatic and genetic evaluation.</strong>
|
|
Molec. Genet. Metab. 119: 322-328, 2016.
|
|
|
|
|
|
[PubMed: 27856190]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/j.ymgme.2016.10.007]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Taubman, B., Hale, D. E., Kelley, R. I.
|
|
<strong>Familial Reye-like syndrome: a presentation of medium-chain acyl-coenzyme A dehydrogenase deficiency.</strong>
|
|
Pediatrics 79: 382-385, 1987.
|
|
|
|
|
|
[PubMed: 3822638]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Treem, W. R., Stanley, C. A., Goodman, S. I.
|
|
<strong>Medium-chain acyl-CoA dehydrogenase deficiency: metabolic effects and therapeutic efficacy of long-term L-carnitine supplementation.</strong>
|
|
J. Inherit. Metab. Dis. 12: 112-119, 1989.
|
|
|
|
|
|
[PubMed: 2502671]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF01800712]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Van Hove, J. L. K., Zhang, W., Kahler, S. G., Roe, C. R., Chen, Y.-T., Terada, N., Chace, D. H., Iafolla, A. K., Ding, J.-H., Millington, D. S.
|
|
<strong>Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: diagnosis by acylcarnitine analysis in blood.</strong>
|
|
Am. J. Hum. Genet. 52: 958-966, 1993.
|
|
|
|
|
|
[PubMed: 8488845]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
von Dobeln, U., Venizelos, N., Hagenfeldt, L.
|
|
<strong>Retrospective diagnosis of 3-hydroxydicarboxylic aciduria by analysis of filter paper blood samples.</strong>
|
|
J. Inherit. Metab. Dis. 13: 165-168, 1990.
|
|
|
|
|
|
[PubMed: 2143242]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF01799680]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Yokota, I., Saijo, T., Vockley, J., Tanaka, K.
|
|
<strong>Impaired tetramer assembly of variant medium-chain acyl-coenzyme A dehydrogenase with a glutamate or aspartate substitution for lysine 304 causing instability of the protein.</strong>
|
|
J. Biol. Chem. 267: 26004-26010, 1992.
|
|
|
|
|
|
[PubMed: 1361190]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ziadeh, R., Hoffman, E. P., Finegold, D. N., Hoop, R. C., Brackett, J. C., Strauss, A. W., Naylor, E. W.
|
|
<strong>Medium chain acyl-CoA dehydrogenase deficiency in Pennsylvania: neonatal screening shows high incidence and unexpected mutation frequencies.</strong>
|
|
Pediat. Res. 37: 675-678, 1995.
|
|
|
|
|
|
[PubMed: 7603790]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1203/00006450-199505000-00021]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Zschocke, J., Schulze, A., Lindner, M., Fiesel, S., Olgemoller, K., Hoffmann, G. F., Penzien, J., Ruiter, J. P. N., Wanders, R. J. A., Mayatepek, E.
|
|
<strong>Molecular and functional characterization of mild MCAD deficiency.</strong>
|
|
Hum. Genet. 108: 404-408, 2001.
|
|
|
|
|
|
[PubMed: 11409868]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/s004390100501]
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OMIM Donation:
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Dear OMIM User,
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To ensure long-term funding for the OMIM project, we have diversified
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our revenue stream. We are determined to keep this website freely
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accessible. Unfortunately, it is not free to produce. Expert curators
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review the literature and organize it to facilitate your work. Over 90%
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of the OMIM's operating expenses go to salary support for MD and PhD
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science writers and biocurators. Please join your colleagues by making a
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donation now and again in the future. Donations are an important
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component of our efforts to ensure long-term funding to provide you the
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Thank you in advance for your generous support, <br />
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Ada Hamosh, MD, MPH <br />
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Scientific Director, OMIM <br />
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