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<title>
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Entry
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- *601609 - 3-HYDROXYACYL-CoA DEHYDROGENASE; HADH
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- OMIM
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</nav>
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<div id="mimSearch" class="hidden-print">
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<form method="get" action="/search" id="mimEntrySearchForm" name="entrySearchForm" class="form-horizontal">
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<input type="hidden" id="mimSearchIndex" name="index" value="entry" />
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<input type="hidden" id="mimSearchStart" name="start" value="1" />
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<input type="hidden" id="mimSearchLimit" name="limit" value="10" />
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<input type="hidden" id="mimSearchSort" name="sort" value="score desc, prefix_sort desc" />
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<input type="search" id="mimEntrySearch" name="search" class="form-control" value="" placeholder="Search OMIM..." maxlength="5000" autocomplete="off" autocorrect="off" autocapitalize="none" spellcheck="false" autofocus />
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Advanced Search
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/entry"> OMIM </a>
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</li>
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/clinicalSynopsis"> Clinical Synopses </a>
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/geneMap"> Gene Map </a>
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<a href="/history"> Search History </a>
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</form>
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<p />
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<div class="row">
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*601609</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<li role="presentation">
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#nomenclature">Nomenclature</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/601609">Table View</a>
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</li>
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<li role="presentation">
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<a href="#seeAlso"><strong>See Also</strong></a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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</li>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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</nav>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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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>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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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="mimGenome">
|
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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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="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000138796;t=ENST00000309522" class="mim-tip-hint" title="Genome databases for vertebrates and other eukaryotic species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/genome/gdv/browser/gene/?id=3033" class="mim-tip-hint" title="Detailed views of the complete genomes of selected organisms from vertebrates to protozoa." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Genome Viewer', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Genome Viewer</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=601609" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</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="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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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="mimDnaLinksFold" 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.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000138796;t=ENST00000309522" class="mim-tip-hint" title="Transcript-based views for coding and noncoding DNA." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl (MANE Select)</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_001184705,NM_001331027,NM_005327,XR_007096395" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_005327" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq (MANE)', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq (MANE Select)</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=601609" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
|
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</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="mimProtein">
|
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
|
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</a>
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</span>
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</span>
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</div>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=08372&isoform_id=08372_1&isoform_name=Isoform_1" class="mim-tip-hint" title="The Human Protein Reference Database; manually extracted and visually depicted information on human proteins." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HPRD', 'domain': 'hprd.org'})">HPRD</a></div>
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<div><a href="https://www.proteinatlas.org/search/HADH" class="mim-tip-hint" title="The Human Protein Atlas contains information for a large majority of all human protein-coding genes regarding the expression and localization of the corresponding proteins based on both RNA and protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HumanProteinAtlas', 'domain': 'proteinatlas.org'})">Human Protein Atlas</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/protein/1483511,2078327,2078329,2108130,4240477,12653081,63996099,119626623,119626624,119626625,189069387,193788304,311033442,332368045,1780199935,1890273916,1890333949" class="mim-tip-hint" title="NCBI protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Protein', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Protein</a></div>
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<div><a href="https://www.uniprot.org/uniprotkb/Q16836" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
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</div>
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</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="mimGeneInfo">
|
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<span class="panel-title">
|
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<span class="small">
|
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" 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="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</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="mimGeneInfoLinksFold" 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="http://biogps.org/#goto=genereport&id=3033" class="mim-tip-hint" title="The Gene Portal Hub; customizable portal of gene and protein function information." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'BioGPS', 'domain': 'biogps.org'})">BioGPS</a></div>
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<div><a href="https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000138796;t=ENST00000309522" class="mim-tip-hint" title="Orthologs, paralogs, regulatory regions, and splice variants." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.genecards.org/cgi-bin/carddisp.pl?gene=HADH" class="mim-tip-hint" title="The Human Genome Compendium; web-based cards integrating automatically mined information on human genes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneCards', 'domain': 'genecards.org'})">GeneCards</a></div>
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<div><a href="http://amigo.geneontology.org/amigo/search/annotation?q=HADH" class="mim-tip-hint" title="Terms, defined using controlled vocabulary, representing gene product properties (biologic process, cellular component, molecular function) across species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneOntology', 'domain': 'amigo.geneontology.org'})">Gene Ontology</a></div>
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<div><a href="https://www.genome.jp/dbget-bin/www_bget?hsa+3033" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<dd><a href="http://v1.marrvel.org/search/gene/HADH" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></dd>
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<dd><a href="https://monarchinitiative.org/NCBIGene:3033" class="mim-tip-hint" title="Monarch Initiative." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Monarch', 'domain': 'monarchinitiative.org'})">Monarch</a></dd>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/3033" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr4&hgg_gene=ENST00000309522.8&hgg_start=107989889&hgg_end=108035171&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</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="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" 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="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:4799" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/hadh" 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=601609[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>
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</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="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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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="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=601609[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000138796" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.ebi.ac.uk/gwas/search?query=HADH" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></div>
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<div><a href="https://www.gwascentral.org/search?q=HADH" class="mim-tip-hint" title="GWAS Central; summary level genotype-to-phenotype information from genetic association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Central', 'domain': 'gwascentral.org'})">GWAS Central </a></div>
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<div><a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=HADH" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=HADH&upstreamSize=0&downstreamSize=0&x=0&y=0" class="mim-tip-hint" title="National Heart, Lung, and Blood Institute Exome Variant Server." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NHLBI EVS', 'domain': 'evs.gs.washington.edu'})">NHLBI EVS</a></div>
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<div><a href="https://www.pharmgkb.org/gene/PA29173" class="mim-tip-hint" title="Pharmacogenomics Knowledge Base; curated and annotated information regarding the effects of human genetic variations on drug response." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PharmGKB', 'domain': 'pharmgkb.org'})">PharmGKB</a></div>
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</div>
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</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/gene/HGNC:4799" 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="https://www.mousephenotype.org/data/genes/MGI:96009" class="mim-tip-hint" title="International Mouse Phenotyping Consortium." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'IMPC', 'domain': 'knockoutmouse.org'})">IMPC</a></div>
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<div><a href="http://v1.marrvel.org/search/gene/HADH#HomologGenesPanel" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></div>
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<div><a href="http://www.informatics.jax.org/marker/MGI:96009" class="mim-tip-hint" title="Mouse Genome Informatics; international database resource for the laboratory mouse, including integrated genetic, genomic, and biological data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Gene', 'domain': 'informatics.jax.org'})">MGI Mouse Gene</a></div>
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<div><a href="https://www.mmrrc.org/catalog/StrainCatalogSearchForm.php?search_query=" class="mim-tip-hint" title="Mutant Mouse Resource & Research Centers." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MMRRC', 'domain': 'mmrrc.org'})">MMRRC</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/3033/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=3033" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="mim#WormbaseGeneFold" id="mimWormbaseGeneToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes."><span id="mimWormbaseGeneToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Wormbase Gene</div>
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<div id="mimWormbaseGeneFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00007129;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00007129 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00010035;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00010035 </a></div>
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</div>
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<div><a href="https://zfin.org/ZDB-GENE-040801-261" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</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="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" 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="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</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="mimCellularPathwaysLinksFold" 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.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:3033" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<div><a href="https://reactome.org/content/query?q=HADH&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</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> 124122005<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="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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601609
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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3-HYDROXYACYL-CoA DEHYDROGENASE; HADH
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</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">
|
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HAD<br />
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HADSC, FORMERLY<br />
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HADHSC, FORMERLY<br />
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SCHAD, FORMERLY
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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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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
|
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<span class="mim-text-font">
|
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=HADH" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">HADH</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
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<strong>
|
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<em>
|
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Cytogenetic location: <a href="/geneMap/4/472?start=-3&limit=10&highlight=472">4q25</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr4:107989889-108035171&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">4:107,989,889-108,035,171</a> </span>
|
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</em>
|
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</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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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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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
|
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</span>
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3-hydroxyacyl-CoA dehydrogenase deficiency
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Hyperinsulinemic hypoglycemia, familial, 4
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<li><a href="/graph/radial/601609" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<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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<p>3-Hydroxyacyl-CoA dehydrogenase (HADH; <a href="https://enzyme.expasy.org/EC/1.1.1.35" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EC\', \'domain\': \'expasy.org\'})">EC 1.1.1.35</a>) catalyzes the reversible dehydrogenation of 3-hydroxyacyl-CoAs to their corresponding 3-ketoacyl-CoAs with concomitant reduction of NAD to NADH and exerts it highest activity toward 3-hydroxydecanoyl-CoA (<a href="#7" class="mim-tip-reference" title="He, X.-Y., Yang, S. Y., Schulz, H. <strong>Assay of L-3-hydroxyacyl-CoA dehydrogenase with substrates of different chain lengths.</strong> Anal. Biochem. 180: 105-109, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2817332/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2817332</a>] [<a href="https://doi.org/10.1016/0003-2697(89)90095-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2817332">He et al., 1989</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2817332" 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>L-3-hydroxyacyl-CoA dehydrogenase was first purified from pig heart by Noyes and Bradshaw (<a href="#11" class="mim-tip-reference" title="Noyes, B. E., Bradshaw, R. A. <strong>L-3-hydroxyacyl coenzyme A dehydrogenase from pig heart muscle. II. Subunit structure.</strong> J. Biol. Chem. 248: 3060-3066, 1973."None>1973</a>, <a href="#10" class="mim-tip-reference" title="Noyes, B. E., Bradshaw, R. A. <strong>L-3-hydroxyacyl coenzyme A dehydrogenase from pig heart muscle. I. Purification and properties.</strong> J. Biol. Chem. 248: 3052-3059, 1973.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4700451/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4700451</a>]" pmid="4700451">1973</a>). The mature subunit of HADH from pig heart is 302 amino acids long, corresponding to a molecular weight of 33 kD. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4700451" 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="Vredendaal, P. J. C. M., van den Berg, I. E. T., Malingre, H. E. M., Stroobants, A. K., Olde Weghuis, D. E. M., Berger, R. <strong>Human short-chain L-3-hydroxyacyl-CoA dehydrogenase: cloning and characterization of the coding sequence.</strong> Biochem. Biophys. Res. Commun. 223: 718-723, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8687463/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8687463</a>] [<a href="https://doi.org/10.1006/bbrc.1996.0961" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8687463">Vredendaal et al. (1996)</a> screened a human liver cDNA library with a PCR product obtained by degenerate PCR using primers based on the pig heart HADH amino acid sequence reported by <a href="#2" class="mim-tip-reference" title="Bitar, K. G., Perez-Aranda, A., Bradshaw, R. A. <strong>Amino acid sequence of L-3-hydroxyacyl CoA dehydrogenase from pig heart muscle.</strong> FEBS Lett. 116: 196-198, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7409145/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7409145</a>] [<a href="https://doi.org/10.1016/0014-5793(80)80642-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7409145">Bitar et al. (1980)</a>. Human HADH encodes a deduced 314-amino acid protein composed of a 12-residue mitochondrial import signal peptide and a 302-residue mature HADH protein with a calculated molecular mass of 34.3 kD. The sequence of the mature protein shows 94% identity with HADH from pig heart. Northern blot analysis revealed expression of HADH in liver, kidney, pancreas, heart, and skeletal muscle. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8687463+7409145" 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="#17" class="mim-tip-reference" title="Vredendaal, P. J. C. M., van den Berg, I. E. T., Stroobants, A. K., van der A, D. L., Malingre, H. E. M., Berger, R. <strong>Structural organization of the human short-chain L-3-hydroxyacyl-CoA dehydrogenase gene.</strong> Mammalian Genome 9: 763-768, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9716664/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9716664</a>] [<a href="https://doi.org/10.1007/s003359900860" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9716664">Vredendaal et al. (1998)</a> determined that the human HADH gene contains 8 exons and spans approximately 49 kb. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9716664" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By fluorescence in situ hybridization, <a href="#16" class="mim-tip-reference" title="Vredendaal, P. J. C. M., van den Berg, I. E. T., Malingre, H. E. M., Stroobants, A. K., Olde Weghuis, D. E. M., Berger, R. <strong>Human short-chain L-3-hydroxyacyl-CoA dehydrogenase: cloning and characterization of the coding sequence.</strong> Biochem. Biophys. Res. Commun. 223: 718-723, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8687463/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8687463</a>] [<a href="https://doi.org/10.1006/bbrc.1996.0961" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8687463">Vredendaal et al. (1996)</a> mapped the human HADH gene to chromosome 4q22-q26. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8687463" 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>Pseudogene</em></strong></p><p>
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<a href="#17" class="mim-tip-reference" title="Vredendaal, P. J. C. M., van den Berg, I. E. T., Stroobants, A. K., van der A, D. L., Malingre, H. E. M., Berger, R. <strong>Structural organization of the human short-chain L-3-hydroxyacyl-CoA dehydrogenase gene.</strong> Mammalian Genome 9: 763-768, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9716664/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9716664</a>] [<a href="https://doi.org/10.1007/s003359900860" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9716664">Vredendaal et al. (1998)</a> identified a putative HADH pseudogene on chromosome 15q17-q21. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9716664" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a patient with HADH deficiency (<a href="/entry/231530">231530</a>) presenting as fulminant hepatic failure, <a href="#12" class="mim-tip-reference" title="O'Brien, L. K., Rinaldo, P., Sims, H. F., Alonso, E. M., Charrow, J., Jones, P. M., Bennett, M. J., Barycki, J. J., Banaszak, L. J., Strauss, A. W. <strong>Fulminant hepatic failure associated with mutations in the medium and short chain L-3-hydroxyacyl-CoA dehydrogenase gene. (Abstract)</strong> J. Inherit. Metab. Dis. 23 (suppl. 1): 127 only, 2000."None>O'Brien et al. (2000)</a> identified compound heterozygosity for 2 mutations in the HADH gene (<a href="#0001">601609.0001</a>; <a href="#0002">601609.0002</a>).</p><p>In patients with hyperinsulinemic hypoglycemia (HHF4; <a href="/entry/609975">609975</a>), <a href="#3" class="mim-tip-reference" title="Clayton, P. T., Eaton, S., Aynsley-Green, A., Edginton, M., Hussain, K., Krywawych, S., Datta, V., Malingre, H. E. M., Berger, R., van den Berg, I. E. T. <strong>Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of beta-oxidation in insulin secretion.</strong> J. Clin. Invest. 108: 457-465, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11489939/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11489939</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11489939[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/10.1172/JCI11294" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11489939">Clayton et al. (2001)</a> and <a href="#9" class="mim-tip-reference" title="Molven, A., Matre, G. E., Duran, M., Wanders, R. J., Rishaug, U., Njolstad, P. R., Jellum, E., Sovik, O. <strong>Familial hyperinsulinemic hypoglycemia caused by a defect in the SCHAD enzyme of mitochondrial fatty acid oxidation.</strong> Diabetes 53: 221-227, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14693719/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14693719</a>] [<a href="https://doi.org/10.2337/diabetes.53.1.221" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14693719">Molven et al. (2004)</a> identified mutations in the HADH gene (<a href="#0003">601609.0003</a>, <a href="#0004">601609.0004</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=14693719+11489939" 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 11 (10%) of 115 unrelated patients with diazoxide-responsive hyperinsulinemic hypoglycemia who were negative for mutation in the hyperinsulinemia-associated genes ABCC8 (<a href="/entry/600509">600509</a>), KCNJ11 (<a href="/entry/600937">600937</a>), GCK (<a href="/entry/138079">138079</a>), and HNF4A (<a href="/entry/600281">600281</a>), <a href="#5" class="mim-tip-reference" title="Flanagan, S. E., Patch, A.-M., Locke, J. M., Akcay, T., Simsek, E., Alaei, M., Yekta, Z., Desai, M., Kapoor, R. R., Hussain, K., Ellard, S. <strong>Genome-wide homozygosity analysis reveals HADH mutations as a common cause of diazoxide-responsive hyperinsulinemic-hypoglycemia in consanguineous pedigrees.</strong> J. Clin. Endocr. Metab. 96: E498-E502, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21252247/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21252247</a>] [<a href="https://doi.org/10.1210/jc.2010-1906" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21252247">Flanagan et al. (2011)</a> identified homozygous mutations in the HADH gene (see, e.g., <a href="#0005">601609.0005</a> and <a href="#0006">601609.0006</a>). When DNA was available, carrier status was confirmed in the unaffected parents; none of the probands had an affected sib. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21252247" 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 Turkish proband with diazoxide-responsive hyperinsulinemic hypoglycemia mapping to chromosome 4q25, in whom no coding mutation in the HADH gene had been found but who showed a reduction in HADH activity in cultured skin fibroblasts, <a href="#6" class="mim-tip-reference" title="Flanagan, S. E., Xie, W., Caswell, R., Damhuis, A., Vianey-Saban, C., Akcay, T., Darendeliler, F., Bas, F., Guven, A., Siklar, Z., Ocal, G., Berberoglu, M., and 9 others. <strong>Next-generation sequencing reveals deep intronic cryptic ABCC8 and HADH splicing founder mutations causing hyperinsulinism by pseudoexon activation.</strong> Am. J. Hum. Genet. 92: 131-136, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23273570/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23273570</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23273570[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/10.1016/j.ajhg.2012.11.017" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23273570">Flanagan et al. (2013)</a> performed next-generation sequencing of the entire genomic region of HADH and identified homozygosity for a deep intronic splicing variant (636+471G-T; <a href="#0007">601609.0007</a>). Screening for the variant in an additional 56 consanguineous and/or Turkish diazoxide-responsive HHF probands revealed homozygosity for 636+471G-T in 8 more Turkish probands. All 9 mutation-positive Turkish patients were also homozygous for the 636+385A-G SNP (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs732941;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs732941</a>), and 5 of the patients were known to share a 1.6-Mb haplotype at chromosome 4q25. <a href="#6" class="mim-tip-reference" title="Flanagan, S. E., Xie, W., Caswell, R., Damhuis, A., Vianey-Saban, C., Akcay, T., Darendeliler, F., Bas, F., Guven, A., Siklar, Z., Ocal, G., Berberoglu, M., and 9 others. <strong>Next-generation sequencing reveals deep intronic cryptic ABCC8 and HADH splicing founder mutations causing hyperinsulinism by pseudoexon activation.</strong> Am. J. Hum. Genet. 92: 131-136, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23273570/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23273570</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23273570[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/10.1016/j.ajhg.2012.11.017" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23273570">Flanagan et al. (2013)</a> stated that the 636+471G-T Turkish founder mutation was the most common HADH mutation in their cohort and accounted for 9 (32%) of 28 individuals with HADH mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23273570" 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="#18" class="mim-tip-reference" title="Yang, S.-Y., He, X.-Y., Schulz, H. <strong>3-Hydroxyacyl-CoA dehydrogenase and short chain 3-hydroxyacyl-CoA dehydrogenase in human health and disease.</strong> FEBS J. 272: 4874-4883, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16176262/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16176262</a>] [<a href="https://doi.org/10.1111/j.1742-4658.2005.04911.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16176262">Yang et al. (2005)</a> discussed the confusion in the literature between the nomenclature of 3-hydroxyacyl-CoA dehydrogenase (HADH) and short-chain 3-hydroxyacyl-CoA dehydrogenase (SCHAD; <a href="/entry/300256">300256</a>). Although <a href="#16" class="mim-tip-reference" title="Vredendaal, P. J. C. M., van den Berg, I. E. T., Malingre, H. E. M., Stroobants, A. K., Olde Weghuis, D. E. M., Berger, R. <strong>Human short-chain L-3-hydroxyacyl-CoA dehydrogenase: cloning and characterization of the coding sequence.</strong> Biochem. Biophys. Res. Commun. 223: 718-723, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8687463/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8687463</a>] [<a href="https://doi.org/10.1006/bbrc.1996.0961" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8687463">Vredendaal et al. (1996)</a> asserted that 3-hydroxyacyl-CoA dehydrogenase exerted high activity towards 3-hydroxybutyryl-CoA, and thus referred to the enzyme as a 'short-chain' dehydrogenase, <a href="#7" class="mim-tip-reference" title="He, X.-Y., Yang, S. Y., Schulz, H. <strong>Assay of L-3-hydroxyacyl-CoA dehydrogenase with substrates of different chain lengths.</strong> Anal. Biochem. 180: 105-109, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2817332/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2817332</a>] [<a href="https://doi.org/10.1016/0003-2697(89)90095-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2817332">He et al. (1989)</a> demonstrated that the enzyme had greater activity for 3-hydroxydecanoyl-CoA, a medium-chain substrate. <a href="#18" class="mim-tip-reference" title="Yang, S.-Y., He, X.-Y., Schulz, H. <strong>3-Hydroxyacyl-CoA dehydrogenase and short chain 3-hydroxyacyl-CoA dehydrogenase in human health and disease.</strong> FEBS J. 272: 4874-4883, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16176262/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16176262</a>] [<a href="https://doi.org/10.1111/j.1742-4658.2005.04911.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16176262">Yang et al. (2005)</a> stated that the enzyme encoded by the HADH gene should not be referred to as SCHAD. Accordingly, some cases of human metabolic disorders previously reported as 'SCHAD deficiency' (e.g., <a href="#13" class="mim-tip-reference" title="Tein, I., De Vivo, D. C., Hale, D. E., Clarke, J. T. R., Zinman, H., Laxer, R., Shore, A., DiMauro, S. <strong>Short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency in muscle: a new case for recurrent myoglobinuria and encephalopathy.</strong> Ann. Neurol. 30: 415-419, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1835339/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1835339</a>] [<a href="https://doi.org/10.1002/ana.410300315" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1835339">Tein et al., 1991</a>; <a href="#1" class="mim-tip-reference" title="Bennett, M. J., Weinberger, M. J., Kobori, J. A., Rinaldo, P., Burlina, A. B. <strong>Mitochondrial short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase deficiency: a new defect of fatty acid oxidation.</strong> Pediat. Res. 39: 185-188, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8825408/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8825408</a>] [<a href="https://doi.org/10.1203/00006450-199601000-00031" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8825408">Bennett et al., 1996</a>; <a href="#14" class="mim-tip-reference" title="Treacy, E. P., Lambert, D. M., Barnes, R., Boriack, R. L., Vockley, J., O'Brien, L. K., Jones, P. M., Bennett, M. J. <strong>Short-chain hydroxyacyl-coenzyme A dehydrogenase deficiency presenting as unexpected infant death: a family study.</strong> J. Pediat. 137: 257-259, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10931422/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10931422</a>] [<a href="https://doi.org/10.1067/mpd.2000.107467" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10931422">Treacy et al., 2000</a>; <a href="#3" class="mim-tip-reference" title="Clayton, P. T., Eaton, S., Aynsley-Green, A., Edginton, M., Hussain, K., Krywawych, S., Datta, V., Malingre, H. E. M., Berger, R., van den Berg, I. E. T. <strong>Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of beta-oxidation in insulin secretion.</strong> J. Clin. Invest. 108: 457-465, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11489939/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11489939</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11489939[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/10.1172/JCI11294" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11489939">Clayton et al., 2001</a>) are in fact cases of 'HADH deficiency' (<a href="/entry/231530">231530</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8687463+2817332+16176262+10931422+1835339+11489939+8825408" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0001 3-@HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY</strong>
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<p>In a patient with HADH deficiency (<a href="/entry/231530">231530</a>), <a href="#12" class="mim-tip-reference" title="O'Brien, L. K., Rinaldo, P., Sims, H. F., Alonso, E. M., Charrow, J., Jones, P. M., Bennett, M. J., Barycki, J. J., Banaszak, L. J., Strauss, A. W. <strong>Fulminant hepatic failure associated with mutations in the medium and short chain L-3-hydroxyacyl-CoA dehydrogenase gene. (Abstract)</strong> J. Inherit. Metab. Dis. 23 (suppl. 1): 127 only, 2000."None>O'Brien et al. (2000)</a> identified compound heterozygosity for 2 mutations in the HADH gene: a 118G-A transition in exon 1, resulting in an ala28-to-thr (A28T) substitution, and a 171C-A transversion in exon 2, resulting in an asp45-to-glu (D45E; <a href="#0002">601609.0002</a>) substitution.</p>
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<p>For discussion of the asp45-to-glu (D45E) mutation in the HADH gene that was found in compound heterozygous state in a patient with HADH deficiency (<a href="/entry/231530">231530</a>) by <a href="#12" class="mim-tip-reference" title="O'Brien, L. K., Rinaldo, P., Sims, H. F., Alonso, E. M., Charrow, J., Jones, P. M., Bennett, M. J., Barycki, J. J., Banaszak, L. J., Strauss, A. W. <strong>Fulminant hepatic failure associated with mutations in the medium and short chain L-3-hydroxyacyl-CoA dehydrogenase gene. (Abstract)</strong> J. Inherit. Metab. Dis. 23 (suppl. 1): 127 only, 2000."None>O'Brien et al. (2000)</a>, see <a href="#0001">601609.0001</a>.</p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs137853103 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137853103;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs137853103" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs137853103" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In an Indian child with severe hyperinsulinemic hypoglycemia (<a href="/entry/609975">609975</a>), <a href="#3" class="mim-tip-reference" title="Clayton, P. T., Eaton, S., Aynsley-Green, A., Edginton, M., Hussain, K., Krywawych, S., Datta, V., Malingre, H. E. M., Berger, R., van den Berg, I. E. T. <strong>Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of beta-oxidation in insulin secretion.</strong> J. Clin. Invest. 108: 457-465, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11489939/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11489939</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11489939[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/10.1172/JCI11294" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11489939">Clayton et al. (2001)</a> identified a homozygous 773C-T transition in exon 7 of the HADH gene, resulting in a pro258-to-leu (P258L) substitution in 1 of the alpha-helices of the C-terminal domain. The mutation was predicted to prevent normal protein folding. In vitro functional expression studies showed that the mutant enzyme had no catalytic activity. The parents were heterozygous for the mutation. <a href="#3" class="mim-tip-reference" title="Clayton, P. T., Eaton, S., Aynsley-Green, A., Edginton, M., Hussain, K., Krywawych, S., Datta, V., Malingre, H. E. M., Berger, R., van den Berg, I. E. T. <strong>Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of beta-oxidation in insulin secretion.</strong> J. Clin. Invest. 108: 457-465, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11489939/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11489939</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11489939[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/10.1172/JCI11294" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11489939">Clayton et al. (2001)</a> postulated that the increased insulin secretion in this patient was related to impaired fatty acid oxidation and suggested that a lipid signaling pathway may be involved in the control of insulin secretion by pancreatic beta-cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11489939" 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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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs2126234459 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2126234459;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs2126234459" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs2126234459" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In an inbred Pakistani family previously reported by <a href="#15" class="mim-tip-reference" title="Vidnes, J., Oyasaeter, S. <strong>Glucagon deficiency causing severe neonatal hypoglycemia in a patient with normal insulin secretion.</strong> Pediat. Res. 11: 943-949, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/904979/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">904979</a>] [<a href="https://doi.org/10.1203/00006450-197709000-00001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="904979">Vidnes and Oyasaeter (1977)</a> in which 4 sibs, 2 males and 2 females, had hyperinsulinemic hypoglycemia (<a href="/entry/609975">609975</a>), <a href="#9" class="mim-tip-reference" title="Molven, A., Matre, G. E., Duran, M., Wanders, R. J., Rishaug, U., Njolstad, P. R., Jellum, E., Sovik, O. <strong>Familial hyperinsulinemic hypoglycemia caused by a defect in the SCHAD enzyme of mitochondrial fatty acid oxidation.</strong> Diabetes 53: 221-227, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14693719/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14693719</a>] [<a href="https://doi.org/10.2337/diabetes.53.1.221" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14693719">Molven et al. (2004)</a> demonstrated a 6-bp deletion that removed the acceptor splice site adjacent to exon 5 of the HADH gene. They demonstrated that exon 5 is skipped during the mRNA splicing process, so that exon 4 is coupled directly onto exon 6. This led to an in-frame deletion of 90 nucleotides in the mature mRNA, resulting in a protein product predicted to lack 30 amino acids. Both parents were heterozygous. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=14693719+904979" 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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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs375717077 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs375717077;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs375717077?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs375717077" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs375717077" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000032678 OR RCV001781331 OR RCV003460539" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000032678, RCV001781331, RCV003460539" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000032678...</a>
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<p>In 6 unrelated children with hyperinsulinemic hypoglycemia (HHF4; <a href="/entry/609975">609975</a>), 3 from Turkey, 2 from Iran, and 1 from Pakistan, <a href="#5" class="mim-tip-reference" title="Flanagan, S. E., Patch, A.-M., Locke, J. M., Akcay, T., Simsek, E., Alaei, M., Yekta, Z., Desai, M., Kapoor, R. R., Hussain, K., Ellard, S. <strong>Genome-wide homozygosity analysis reveals HADH mutations as a common cause of diazoxide-responsive hyperinsulinemic-hypoglycemia in consanguineous pedigrees.</strong> J. Clin. Endocr. Metab. 96: E498-E502, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21252247/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21252247</a>] [<a href="https://doi.org/10.1210/jc.2010-1906" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21252247">Flanagan et al. (2011)</a> identified homozygosity for a 706C-T transition in exon 6 of the HADH gene, resulting in an arg236-to-ter (R236X) substitution. When DNA was available, carrier status was confirmed in the unaffected parents; none of the probands had an affected sib. <a href="#5" class="mim-tip-reference" title="Flanagan, S. E., Patch, A.-M., Locke, J. M., Akcay, T., Simsek, E., Alaei, M., Yekta, Z., Desai, M., Kapoor, R. R., Hussain, K., Ellard, S. <strong>Genome-wide homozygosity analysis reveals HADH mutations as a common cause of diazoxide-responsive hyperinsulinemic-hypoglycemia in consanguineous pedigrees.</strong> J. Clin. Endocr. Metab. 96: E498-E502, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21252247/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21252247</a>] [<a href="https://doi.org/10.1210/jc.2010-1906" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21252247">Flanagan et al. (2011)</a> noted that the R236X mutation had previously been reported in a patient with hyperinsulinemic hypoglycemia (<a href="#4" class="mim-tip-reference" title="Di Candia, S., Gessi, A., Pepe, G., Sogno Valin, P., Mangano, E., Chiumello, G., Gianolli, L., Proverbio, M. C., Mora, S. <strong>Identification of a diffuse form of hyperinsulinemic hypoglycemia by 18-fluor-L-3,4 dihydroxyphenylalanine positron emission tomography/CT in a patient carrying a novel mutation of the HADH gene.</strong> Europ. J. Endocr. 160: 1019-1023, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19318379/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19318379</a>] [<a href="https://doi.org/10.1530/EJE-08-0945" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19318379">Di Candia et al., 2009</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=19318379+21252247" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In 2 unrelated boys from India with hyperinsulinemic hypoglycemia (HHF4; <a href="/entry/609975">609975</a>), <a href="#5" class="mim-tip-reference" title="Flanagan, S. E., Patch, A.-M., Locke, J. M., Akcay, T., Simsek, E., Alaei, M., Yekta, Z., Desai, M., Kapoor, R. R., Hussain, K., Ellard, S. <strong>Genome-wide homozygosity analysis reveals HADH mutations as a common cause of diazoxide-responsive hyperinsulinemic-hypoglycemia in consanguineous pedigrees.</strong> J. Clin. Endocr. Metab. 96: E498-E502, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21252247/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21252247</a>] [<a href="https://doi.org/10.1210/jc.2010-1906" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21252247">Flanagan et al. (2011)</a> identified homozygosity for deletion of the minimal promoter and exon 1 (1-3440_132 + 1943del) in the HADH gene. When DNA was available, carrier status was confirmed in the unaffected parents; neither of the probands had an affected sib. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21252247" 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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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs786200932 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs786200932;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs786200932" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs786200932" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 9 Turkish probands with diazoxide-responsive hyperinsulinemic hypoglycemia (HHF4; <a href="/entry/609975">609975</a>), 3 of whom were previously studied by <a href="#5" class="mim-tip-reference" title="Flanagan, S. E., Patch, A.-M., Locke, J. M., Akcay, T., Simsek, E., Alaei, M., Yekta, Z., Desai, M., Kapoor, R. R., Hussain, K., Ellard, S. <strong>Genome-wide homozygosity analysis reveals HADH mutations as a common cause of diazoxide-responsive hyperinsulinemic-hypoglycemia in consanguineous pedigrees.</strong> J. Clin. Endocr. Metab. 96: E498-E502, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21252247/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21252247</a>] [<a href="https://doi.org/10.1210/jc.2010-1906" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21252247">Flanagan et al. (2011)</a>, <a href="#6" class="mim-tip-reference" title="Flanagan, S. E., Xie, W., Caswell, R., Damhuis, A., Vianey-Saban, C., Akcay, T., Darendeliler, F., Bas, F., Guven, A., Siklar, Z., Ocal, G., Berberoglu, M., and 9 others. <strong>Next-generation sequencing reveals deep intronic cryptic ABCC8 and HADH splicing founder mutations causing hyperinsulinism by pseudoexon activation.</strong> Am. J. Hum. Genet. 92: 131-136, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23273570/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23273570</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23273570[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/10.1016/j.ajhg.2012.11.017" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23273570">Flanagan et al. (2013)</a> identified homozygosity for a 636+471G-T transversion deep within intron 5 of the HADH gene, creating a cryptic splice donor site that results in the inclusion of an out-of-frame 141-bp pseudoexon and premature termination. The mutation was present in heterozygosity in tested parents. All 9 mutation-positive Turkish patients were also homozygous for an HADH SNP, 636+385A-G (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs732941;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs732941</a>), and 5 of the patients were known to share a 1.6-Mb haplotype at chromosome 4q25 (chr4:108,874,712-108,968,640; GRCh37). <a href="#6" class="mim-tip-reference" title="Flanagan, S. E., Xie, W., Caswell, R., Damhuis, A., Vianey-Saban, C., Akcay, T., Darendeliler, F., Bas, F., Guven, A., Siklar, Z., Ocal, G., Berberoglu, M., and 9 others. <strong>Next-generation sequencing reveals deep intronic cryptic ABCC8 and HADH splicing founder mutations causing hyperinsulinism by pseudoexon activation.</strong> Am. J. Hum. Genet. 92: 131-136, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23273570/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23273570</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23273570[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/10.1016/j.ajhg.2012.11.017" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23273570">Flanagan et al. (2013)</a> stated that the 636+471G-T Turkish founder mutation was the most common HADH mutation in their cohort and accounted for 9 (32%) of 28 individuals with HADH mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=23273570+21252247" 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="https://doi.org/10.1016/0014-5793(80)80642-9" target="_blank">Full Text</a>]
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Clayton, P. T., Eaton, S., Aynsley-Green, A., Edginton, M., Hussain, K., Krywawych, S., Datta, V., Malingre, H. E. M., Berger, R., van den Berg, I. E. T.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11489939/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11489939</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11489939[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=11489939" 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/JCI11294" target="_blank">Full Text</a>]
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Di Candia, S., Gessi, A., Pepe, G., Sogno Valin, P., Mangano, E., Chiumello, G., Gianolli, L., Proverbio, M. C., Mora, S.
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<strong>Identification of a diffuse form of hyperinsulinemic hypoglycemia by 18-fluor-L-3,4 dihydroxyphenylalanine positron emission tomography/CT in a patient carrying a novel mutation of the HADH gene.</strong>
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Europ. J. Endocr. 160: 1019-1023, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19318379/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19318379</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19318379" 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/10.1530/EJE-08-0945" target="_blank">Full Text</a>]
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Flanagan, S. E., Patch, A.-M., Locke, J. M., Akcay, T., Simsek, E., Alaei, M., Yekta, Z., Desai, M., Kapoor, R. R., Hussain, K., Ellard, S.
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<strong>Genome-wide homozygosity analysis reveals HADH mutations as a common cause of diazoxide-responsive hyperinsulinemic-hypoglycemia in consanguineous pedigrees.</strong>
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J. Clin. Endocr. Metab. 96: E498-E502, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21252247/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21252247</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21252247" 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/10.1210/jc.2010-1906" target="_blank">Full Text</a>]
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Flanagan, S. E., Xie, W., Caswell, R., Damhuis, A., Vianey-Saban, C., Akcay, T., Darendeliler, F., Bas, F., Guven, A., Siklar, Z., Ocal, G., Berberoglu, M., and 9 others.
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<strong>Next-generation sequencing reveals deep intronic cryptic ABCC8 and HADH splicing founder mutations causing hyperinsulinism by pseudoexon activation.</strong>
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Am. J. Hum. Genet. 92: 131-136, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23273570/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23273570</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23273570[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=23273570" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2012.11.017" target="_blank">Full Text</a>]
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He, X.-Y., Yang, S. Y., Schulz, H.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2817332/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2817332</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2817332" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0003-2697(89)90095-x" target="_blank">Full Text</a>]
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He, X.-Y., Zhang, G., Blecha, F., Yang, S. Y.
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<strong>Identity of heart and liver L-3-hydroxyacyl coenzyme A dehydrogenase.</strong>
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Biochim. Biophys. Acta 1437: 119-123, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10064895/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10064895</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10064895" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s1388-1981(98)00005-5" target="_blank">Full Text</a>]
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Molven, A., Matre, G. E., Duran, M., Wanders, R. J., Rishaug, U., Njolstad, P. R., Jellum, E., Sovik, O.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14693719/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14693719</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14693719" 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/10.2337/diabetes.53.1.221" target="_blank">Full Text</a>]
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<strong>L-3-hydroxyacyl coenzyme A dehydrogenase from pig heart muscle. I. Purification and properties.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4700451/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4700451</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4700451" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Noyes, B. E., Bradshaw, R. A.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1835339/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1835339</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1835339" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ana.410300315" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="14" class="mim-anchor"></a>
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<a id="Treacy2000" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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|
Treacy, E. P., Lambert, D. M., Barnes, R., Boriack, R. L., Vockley, J., O'Brien, L. K., Jones, P. M., Bennett, M. J.
|
|
<strong>Short-chain hydroxyacyl-coenzyme A dehydrogenase deficiency presenting as unexpected infant death: a family study.</strong>
|
|
J. Pediat. 137: 257-259, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10931422/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10931422</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10931422" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1067/mpd.2000.107467" 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="15" class="mim-anchor"></a>
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<a id="Vidnes1977" class="mim-anchor"></a>
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<div class="">
|
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<p class="mim-text-font">
|
|
Vidnes, J., Oyasaeter, S.
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|
<strong>Glucagon deficiency causing severe neonatal hypoglycemia in a patient with normal insulin secretion.</strong>
|
|
Pediat. Res. 11: 943-949, 1977.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/904979/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">904979</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=904979" 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/10.1203/00006450-197709000-00001" 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="16" class="mim-anchor"></a>
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<a id="Vredendaal1996" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Vredendaal, P. J. C. M., van den Berg, I. E. T., Malingre, H. E. M., Stroobants, A. K., Olde Weghuis, D. E. M., Berger, R.
|
|
<strong>Human short-chain L-3-hydroxyacyl-CoA dehydrogenase: cloning and characterization of the coding sequence.</strong>
|
|
Biochem. Biophys. Res. Commun. 223: 718-723, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8687463/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8687463</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8687463" 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/10.1006/bbrc.1996.0961" 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="17" class="mim-anchor"></a>
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<a id="Vredendaal1998" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Vredendaal, P. J. C. M., van den Berg, I. E. T., Stroobants, A. K., van der A, D. L., Malingre, H. E. M., Berger, R.
|
|
<strong>Structural organization of the human short-chain L-3-hydroxyacyl-CoA dehydrogenase gene.</strong>
|
|
Mammalian Genome 9: 763-768, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9716664/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9716664</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9716664" 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/s003359900860" 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="18" class="mim-anchor"></a>
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<a id="Yang2005" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Yang, S.-Y., He, X.-Y., Schulz, H.
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<strong>3-Hydroxyacyl-CoA dehydrogenase and short chain 3-hydroxyacyl-CoA dehydrogenase in human health and disease.</strong>
|
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FEBS J. 272: 4874-4883, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16176262/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16176262</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16176262" 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.1742-4658.2005.04911.x" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<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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Marla J. F. O'Neill - updated : 2/4/2013
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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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Marla J. F. O'Neill - updated : 3/16/2006<br>Victor A. McKusick - updated : 3/8/2006<br>Victor A. McKusick - updated : 7/11/2005<br>Natalie E. Krasikov - updated : 2/20/2004
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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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Alan F. Scott : 1/6/1997
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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="editHistory" 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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<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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mcolton : 08/18/2015
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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 : 3/27/2015<br>alopez : 2/10/2015<br>carol : 10/3/2013<br>carol : 2/4/2013<br>carol : 7/18/2006<br>carol : 3/17/2006<br>carol : 3/16/2006<br>terry : 3/8/2006<br>joanna : 3/1/2006<br>carol : 2/21/2006<br>terry : 12/20/2005<br>carol : 10/7/2005<br>ckniffin : 9/27/2005<br>carol : 9/23/2005<br>terry : 7/11/2005<br>carol : 3/17/2004<br>carol : 2/20/2004<br>carol : 8/18/1998<br>mark : 5/1/1997<br>mark : 4/14/1997<br>jamie : 1/17/1997<br>mark : 1/6/1997
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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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</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> 601609
|
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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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|
|
3-HYDROXYACYL-CoA DEHYDROGENASE; HADH
|
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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">
|
|
HAD<br />
|
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HADSC, FORMERLY<br />
|
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HADHSC, FORMERLY<br />
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|
SCHAD, FORMERLY
|
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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><em>HGNC Approved Gene Symbol: HADH</em></strong>
|
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</span>
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</p>
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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> 124122005;
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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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<p>
|
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<span class="mim-text-font">
|
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<strong>
|
|
<em>
|
|
Cytogenetic location: 4q25
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : 4:107,989,889-108,035,171 </span>
|
|
</em>
|
|
</strong>
|
|
<span class="small">(from NCBI)</span>
|
|
</span>
|
|
</p>
|
|
</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>Gene-Phenotype Relationships</strong>
|
|
</span>
|
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</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed 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>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="2">
|
|
<span class="mim-font">
|
|
4q25
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
3-hydroxyacyl-CoA dehydrogenase deficiency
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
231530
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
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</td>
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</tr>
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<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Hyperinsulinemic hypoglycemia, familial, 4
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
609975
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
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|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
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|
<div>
|
|
<br />
|
|
</div>
|
|
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<div>
|
|
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</h4>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>3-Hydroxyacyl-CoA dehydrogenase (HADH; EC 1.1.1.35) catalyzes the reversible dehydrogenation of 3-hydroxyacyl-CoAs to their corresponding 3-ketoacyl-CoAs with concomitant reduction of NAD to NADH and exerts it highest activity toward 3-hydroxydecanoyl-CoA (He et al., 1989). </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Cloning and Expression</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>L-3-hydroxyacyl-CoA dehydrogenase was first purified from pig heart by Noyes and Bradshaw (1973, 1973). The mature subunit of HADH from pig heart is 302 amino acids long, corresponding to a molecular weight of 33 kD. </p><p>Vredendaal et al. (1996) screened a human liver cDNA library with a PCR product obtained by degenerate PCR using primers based on the pig heart HADH amino acid sequence reported by Bitar et al. (1980). Human HADH encodes a deduced 314-amino acid protein composed of a 12-residue mitochondrial import signal peptide and a 302-residue mature HADH protein with a calculated molecular mass of 34.3 kD. The sequence of the mature protein shows 94% identity with HADH from pig heart. Northern blot analysis revealed expression of HADH in liver, kidney, pancreas, heart, and skeletal muscle. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Structure</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Vredendaal et al. (1998) determined that the human HADH gene contains 8 exons and spans approximately 49 kb. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>By fluorescence in situ hybridization, Vredendaal et al. (1996) mapped the human HADH gene to chromosome 4q22-q26. </p><p><strong><em>Pseudogene</em></strong></p><p>
|
|
Vredendaal et al. (1998) identified a putative HADH pseudogene on chromosome 15q17-q21. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
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<span class="mim-text-font">
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<p>In a patient with HADH deficiency (231530) presenting as fulminant hepatic failure, O'Brien et al. (2000) identified compound heterozygosity for 2 mutations in the HADH gene (601609.0001; 601609.0002).</p><p>In patients with hyperinsulinemic hypoglycemia (HHF4; 609975), Clayton et al. (2001) and Molven et al. (2004) identified mutations in the HADH gene (601609.0003, 601609.0004). </p><p>In 11 (10%) of 115 unrelated patients with diazoxide-responsive hyperinsulinemic hypoglycemia who were negative for mutation in the hyperinsulinemia-associated genes ABCC8 (600509), KCNJ11 (600937), GCK (138079), and HNF4A (600281), Flanagan et al. (2011) identified homozygous mutations in the HADH gene (see, e.g., 601609.0005 and 601609.0006). When DNA was available, carrier status was confirmed in the unaffected parents; none of the probands had an affected sib. </p><p>In a Turkish proband with diazoxide-responsive hyperinsulinemic hypoglycemia mapping to chromosome 4q25, in whom no coding mutation in the HADH gene had been found but who showed a reduction in HADH activity in cultured skin fibroblasts, Flanagan et al. (2013) performed next-generation sequencing of the entire genomic region of HADH and identified homozygosity for a deep intronic splicing variant (636+471G-T; 601609.0007). Screening for the variant in an additional 56 consanguineous and/or Turkish diazoxide-responsive HHF probands revealed homozygosity for 636+471G-T in 8 more Turkish probands. All 9 mutation-positive Turkish patients were also homozygous for the 636+385A-G SNP (rs732941), and 5 of the patients were known to share a 1.6-Mb haplotype at chromosome 4q25. Flanagan et al. (2013) stated that the 636+471G-T Turkish founder mutation was the most common HADH mutation in their cohort and accounted for 9 (32%) of 28 individuals with HADH mutations. </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>Nomenclature</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>Yang et al. (2005) discussed the confusion in the literature between the nomenclature of 3-hydroxyacyl-CoA dehydrogenase (HADH) and short-chain 3-hydroxyacyl-CoA dehydrogenase (SCHAD; 300256). Although Vredendaal et al. (1996) asserted that 3-hydroxyacyl-CoA dehydrogenase exerted high activity towards 3-hydroxybutyryl-CoA, and thus referred to the enzyme as a 'short-chain' dehydrogenase, He et al. (1989) demonstrated that the enzyme had greater activity for 3-hydroxydecanoyl-CoA, a medium-chain substrate. Yang et al. (2005) stated that the enzyme encoded by the HADH gene should not be referred to as SCHAD. Accordingly, some cases of human metabolic disorders previously reported as 'SCHAD deficiency' (e.g., Tein et al., 1991; Bennett et al., 1996; Treacy et al., 2000; Clayton et al., 2001) are in fact cases of 'HADH deficiency' (231530). </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>ALLELIC VARIANTS</strong>
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</span>
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<strong>7 Selected Examples):</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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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 3-@HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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HADH, ALA28THR
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<br />
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SNP: rs137853101,
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ClinVar: RCV000008482, RCV003221346
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a patient with HADH deficiency (231530), O'Brien et al. (2000) identified compound heterozygosity for 2 mutations in the HADH gene: a 118G-A transition in exon 1, resulting in an ala28-to-thr (A28T) substitution, and a 171C-A transversion in exon 2, resulting in an asp45-to-glu (D45E; 601609.0002) substitution.</p>
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</span>
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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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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 3-@HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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HADH, ASP45GLU
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<br />
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SNP: rs137853102,
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gnomAD: rs137853102,
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ClinVar: RCV000008483, RCV001762038, RCV003221347
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>For discussion of the asp45-to-glu (D45E) mutation in the HADH gene that was found in compound heterozygous state in a patient with HADH deficiency (231530) by O'Brien et al. (2000), see 601609.0001.</p>
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</span>
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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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<div>
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<h4>
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<span class="mim-font">
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<strong>.0003 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 4</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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HADH, PRO258LEU
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<br />
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SNP: rs137853103,
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ClinVar: RCV000008484
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In an Indian child with severe hyperinsulinemic hypoglycemia (609975), Clayton et al. (2001) identified a homozygous 773C-T transition in exon 7 of the HADH gene, resulting in a pro258-to-leu (P258L) substitution in 1 of the alpha-helices of the C-terminal domain. The mutation was predicted to prevent normal protein folding. In vitro functional expression studies showed that the mutant enzyme had no catalytic activity. The parents were heterozygous for the mutation. Clayton et al. (2001) postulated that the increased insulin secretion in this patient was related to impaired fatty acid oxidation and suggested that a lipid signaling pathway may be involved in the control of insulin secretion by pancreatic beta-cells. </p>
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</span>
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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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<div>
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<h4>
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<span class="mim-font">
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<strong>.0004 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 4</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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HADH, 6-BP DEL
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<br />
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SNP: rs2126234459,
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ClinVar: RCV000008485
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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|
<p>In an inbred Pakistani family previously reported by Vidnes and Oyasaeter (1977) in which 4 sibs, 2 males and 2 females, had hyperinsulinemic hypoglycemia (609975), Molven et al. (2004) demonstrated a 6-bp deletion that removed the acceptor splice site adjacent to exon 5 of the HADH gene. They demonstrated that exon 5 is skipped during the mRNA splicing process, so that exon 4 is coupled directly onto exon 6. This led to an in-frame deletion of 90 nucleotides in the mature mRNA, resulting in a protein product predicted to lack 30 amino acids. Both parents were heterozygous. </p>
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</span>
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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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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0005 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 4</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<div>
|
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<span class="mim-text-font">
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|
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HADH, ARG236TER
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<br />
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SNP: rs375717077,
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gnomAD: rs375717077,
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|
|
ClinVar: RCV000032678, RCV001781331, RCV003460539
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</span>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In 6 unrelated children with hyperinsulinemic hypoglycemia (HHF4; 609975), 3 from Turkey, 2 from Iran, and 1 from Pakistan, Flanagan et al. (2011) identified homozygosity for a 706C-T transition in exon 6 of the HADH gene, resulting in an arg236-to-ter (R236X) substitution. When DNA was available, carrier status was confirmed in the unaffected parents; none of the probands had an affected sib. Flanagan et al. (2011) noted that the R236X mutation had previously been reported in a patient with hyperinsulinemic hypoglycemia (Di Candia et al., 2009). </p>
|
|
</span>
|
|
</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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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 4</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HADH, EX1DEL
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
ClinVar: RCV000032679
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 unrelated boys from India with hyperinsulinemic hypoglycemia (HHF4; 609975), Flanagan et al. (2011) identified homozygosity for deletion of the minimal promoter and exon 1 (1-3440_132 + 1943del) in the HADH gene. When DNA was available, carrier status was confirmed in the unaffected parents; neither of the probands had an affected sib. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 4</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HADH, IVS5, G-T, +471
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs786200932,
|
|
|
|
|
|
|
|
ClinVar: RCV000032680
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 9 Turkish probands with diazoxide-responsive hyperinsulinemic hypoglycemia (HHF4; 609975), 3 of whom were previously studied by Flanagan et al. (2011), Flanagan et al. (2013) identified homozygosity for a 636+471G-T transversion deep within intron 5 of the HADH gene, creating a cryptic splice donor site that results in the inclusion of an out-of-frame 141-bp pseudoexon and premature termination. The mutation was present in heterozygosity in tested parents. All 9 mutation-positive Turkish patients were also homozygous for an HADH SNP, 636+385A-G (rs732941), and 5 of the patients were known to share a 1.6-Mb haplotype at chromosome 4q25 (chr4:108,874,712-108,968,640; GRCh37). Flanagan et al. (2013) stated that the 636+471G-T Turkish founder mutation was the most common HADH mutation in their cohort and accounted for 9 (32%) of 28 individuals with HADH mutations. </p>
|
|
</span>
|
|
</div>
|
|
|
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<div>
|
|
<br />
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|
</div>
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</div>
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</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>See Also:</strong>
|
|
</span>
|
|
</h4>
|
|
<span class="mim-text-font">
|
|
He et al. (1999)
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
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<li>
|
|
<p class="mim-text-font">
|
|
Bennett, M. J., Weinberger, M. J., Kobori, J. A., Rinaldo, P., Burlina, A. B.
|
|
<strong>Mitochondrial short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase deficiency: a new defect of fatty acid oxidation.</strong>
|
|
Pediat. Res. 39: 185-188, 1996.
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|
[PubMed: 8825408]
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[Full Text: https://doi.org/10.1203/00006450-199601000-00031]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Bitar, K. G., Perez-Aranda, A., Bradshaw, R. A.
|
|
<strong>Amino acid sequence of L-3-hydroxyacyl CoA dehydrogenase from pig heart muscle.</strong>
|
|
FEBS Lett. 116: 196-198, 1980.
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|
[PubMed: 7409145]
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[Full Text: https://doi.org/10.1016/0014-5793(80)80642-9]
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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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Clayton, P. T., Eaton, S., Aynsley-Green, A., Edginton, M., Hussain, K., Krywawych, S., Datta, V., Malingre, H. E. M., Berger, R., van den Berg, I. E. T.
|
|
<strong>Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of beta-oxidation in insulin secretion.</strong>
|
|
J. Clin. Invest. 108: 457-465, 2001.
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|
[PubMed: 11489939]
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[Full Text: https://doi.org/10.1172/JCI11294]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Di Candia, S., Gessi, A., Pepe, G., Sogno Valin, P., Mangano, E., Chiumello, G., Gianolli, L., Proverbio, M. C., Mora, S.
|
|
<strong>Identification of a diffuse form of hyperinsulinemic hypoglycemia by 18-fluor-L-3,4 dihydroxyphenylalanine positron emission tomography/CT in a patient carrying a novel mutation of the HADH gene.</strong>
|
|
Europ. J. Endocr. 160: 1019-1023, 2009.
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|
[PubMed: 19318379]
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[Full Text: https://doi.org/10.1530/EJE-08-0945]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Flanagan, S. E., Patch, A.-M., Locke, J. M., Akcay, T., Simsek, E., Alaei, M., Yekta, Z., Desai, M., Kapoor, R. R., Hussain, K., Ellard, S.
|
|
<strong>Genome-wide homozygosity analysis reveals HADH mutations as a common cause of diazoxide-responsive hyperinsulinemic-hypoglycemia in consanguineous pedigrees.</strong>
|
|
J. Clin. Endocr. Metab. 96: E498-E502, 2011.
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|
|
[PubMed: 21252247]
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[Full Text: https://doi.org/10.1210/jc.2010-1906]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Flanagan, S. E., Xie, W., Caswell, R., Damhuis, A., Vianey-Saban, C., Akcay, T., Darendeliler, F., Bas, F., Guven, A., Siklar, Z., Ocal, G., Berberoglu, M., and 9 others.
|
|
<strong>Next-generation sequencing reveals deep intronic cryptic ABCC8 and HADH splicing founder mutations causing hyperinsulinism by pseudoexon activation.</strong>
|
|
Am. J. Hum. Genet. 92: 131-136, 2013.
|
|
|
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|
|
[PubMed: 23273570]
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|
|
[Full Text: https://doi.org/10.1016/j.ajhg.2012.11.017]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
He, X.-Y., Yang, S. Y., Schulz, H.
|
|
<strong>Assay of L-3-hydroxyacyl-CoA dehydrogenase with substrates of different chain lengths.</strong>
|
|
Anal. Biochem. 180: 105-109, 1989.
|
|
|
|
|
|
[PubMed: 2817332]
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|
|
[Full Text: https://doi.org/10.1016/0003-2697(89)90095-x]
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
He, X.-Y., Zhang, G., Blecha, F., Yang, S. Y.
|
|
<strong>Identity of heart and liver L-3-hydroxyacyl coenzyme A dehydrogenase.</strong>
|
|
Biochim. Biophys. Acta 1437: 119-123, 1999.
|
|
|
|
|
|
[PubMed: 10064895]
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|
|
[Full Text: https://doi.org/10.1016/s1388-1981(98)00005-5]
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Molven, A., Matre, G. E., Duran, M., Wanders, R. J., Rishaug, U., Njolstad, P. R., Jellum, E., Sovik, O.
|
|
<strong>Familial hyperinsulinemic hypoglycemia caused by a defect in the SCHAD enzyme of mitochondrial fatty acid oxidation.</strong>
|
|
Diabetes 53: 221-227, 2004.
|
|
|
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|
|
[PubMed: 14693719]
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|
|
[Full Text: https://doi.org/10.2337/diabetes.53.1.221]
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</p>
|
|
</li>
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Noyes, B. E., Bradshaw, R. A.
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Noyes, B. E., Bradshaw, R. A.
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<strong>L-3-hydroxyacyl coenzyme A dehydrogenase from pig heart muscle. II. Subunit structure.</strong>
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J. Biol. Chem. 248: 3060-3066, 1973.
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O'Brien, L. K., Rinaldo, P., Sims, H. F., Alonso, E. M., Charrow, J., Jones, P. M., Bennett, M. J., Barycki, J. J., Banaszak, L. J., Strauss, A. W.
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<strong>Fulminant hepatic failure associated with mutations in the medium and short chain L-3-hydroxyacyl-CoA dehydrogenase gene. (Abstract)</strong>
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J. Inherit. Metab. Dis. 23 (suppl. 1): 127 only, 2000.
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Tein, I., De Vivo, D. C., Hale, D. E., Clarke, J. T. R., Zinman, H., Laxer, R., Shore, A., DiMauro, S.
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<strong>Short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency in muscle: a new case for recurrent myoglobinuria and encephalopathy.</strong>
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Ann. Neurol. 30: 415-419, 1991.
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Treacy, E. P., Lambert, D. M., Barnes, R., Boriack, R. L., Vockley, J., O'Brien, L. K., Jones, P. M., Bennett, M. J.
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Vidnes, J., Oyasaeter, S.
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Pediat. Res. 11: 943-949, 1977.
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Vredendaal, P. J. C. M., van den Berg, I. E. T., Malingre, H. E. M., Stroobants, A. K., Olde Weghuis, D. E. M., Berger, R.
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<strong>Human short-chain L-3-hydroxyacyl-CoA dehydrogenase: cloning and characterization of the coding sequence.</strong>
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Vredendaal, P. J. C. M., van den Berg, I. E. T., Stroobants, A. K., van der A, D. L., Malingre, H. E. M., Berger, R.
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<strong>Structural organization of the human short-chain L-3-hydroxyacyl-CoA dehydrogenase gene.</strong>
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Yang, S.-Y., He, X.-Y., Schulz, H.
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<strong>3-Hydroxyacyl-CoA dehydrogenase and short chain 3-hydroxyacyl-CoA dehydrogenase in human health and disease.</strong>
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