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<meta name="keywords" content="3-hydroxyacyl-coa dehydrogenase long chain deficiency, C3711645, deficiency of long-chain 3-hydroxyacyl-coa dehydrogenase, deficiency of long-chain 3-hydroxyacyl-coenzyme a dehydrogenase, disease or syndrome, fatty liver, acute, of pregnancy, hadha, hellp syndrome, maternal, of pregnancy, lchad deficiency, lchadd, lchadd - long chain 3-hydroxyacyl-coenzyme a dehydrogenase deficiency, long chain 3-hydroxyacyl-coa dehydrogenase deficiency, long chain 3-hydroxyacyl-coenzyme a dehydrogenase deficiency, long-chain 3-hydroxy acyl coa dehydrogenase deficiency, long-chain 3-hydroxyacyl-coa dehydrogenase deficiency, long-chain 3-hydroxyacyl-coenzyme a dehydrogenase deficiency, long-chain 3-oh acyl-coa dehydrogenase deficiency, trifunctional protein deficiency type 1, trifunctional protein deficiency, type 1, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Long-chain hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency and trifunctional protein (TFP) deficiency are caused by impairment of mitochondrial TFP. TFP has three enzymatic activities – long-chain enoyl-CoA hydratase, long-chain 3-hydroxyacyl-CoA dehydrogenase, and long-chain 3-ketoacyl-CoA thiolase. In individuals with LCHAD deficiency, there is isolated deficiency of long-chain 3-hydroxyacyl-CoA dehydrogenase, while deficiency of all three enzymes occurs in individuals with TFP deficiency. Individuals with TFP deficiency can present with a severe-to-mild phenotype, while individuals with LCHAD deficiency typically present with a severe-to-intermediate phenotype. Neonates with the severe phenotype present within a few days of birth with hypoglycemia, hepatomegaly, encephalopathy, and often cardiomyopathy. The intermediate phenotype is characterized by hypoketotic hypoglycemia precipitated by infection or fasting in infancy. The mild (late-onset) phenotype is characterized by myopathy and/or neuropathy. Long-term complications include peripheral neuropathy and retinopathy." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=778253
|
||
ConceptID=C3711645
|
||
-->
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<!--imgCountBooks = 1--><div class="ncbi_carousel" data-ncbicarousel-config="imageWidth:'100px',numItemsVisible:2,toggler:false"><div class="nc_header"><span class="img_strip_title">Image</span></div><div class="nc_content"><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK583531/bin/lchad-Image001.gif" src-large="/books/NBK583531/bin/lchad-Image001.jpg" /></a><br /><a href="/books/NBK583531/figure/lchad.F1/" title="GeneReviews" target="_blank">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>778253</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C3711645</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Deficiency of long-chain 3-hydroxyacyl-coenzyme A dehydrogenase; LCHAD Deficiency</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (726021008); LCHADD - long chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (726021008); Long chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (726021008)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141025"><div><strong>Autosomal recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141025</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0441748</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="HADHA - ID: 3030 - NCBI Gene" href="/gene/3030" class="medgenPMinfo">HADHA</a> (2p23.3)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0012173" target="_blank">MONDO:0012173</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/609016" target="_blank">609016</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=5">ORPHA5</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
|
||
<div class="portlet mgSection" id="ID_101">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK583531" target="_blank">Long-Chain Hydroxyacyl-CoA Dehydrogenase Deficiency / Trifunctional Protein Deficiency</a></div><div>Long-chain hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency and trifunctional protein (TFP) deficiency are caused by impairment of mitochondrial TFP. TFP has three enzymatic activities – long-chain enoyl-CoA hydratase, long-chain 3-hydroxyacyl-CoA dehydrogenase, and long-chain 3-ketoacyl-CoA thiolase. In individuals with LCHAD deficiency, there is isolated deficiency of long-chain 3-hydroxyacyl-CoA dehydrogenase, while deficiency of all three enzymes occurs in individuals with TFP deficiency. Individuals with TFP deficiency can present with a severe-to-mild phenotype, while individuals with LCHAD deficiency typically present with a severe-to-intermediate phenotype. Neonates with the severe phenotype present within a few days of birth with hypoglycemia, hepatomegaly, encephalopathy, and often cardiomyopathy. The intermediate phenotype is characterized by hypoketotic hypoglycemia precipitated by infection or fasting in infancy. The mild (late-onset) phenotype is characterized by myopathy and/or neuropathy. Long-term complications include peripheral neuropathy and retinopathy. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK583531#lchad.Summary" target="NBK583531">Summary</a> | <a class="medgenPMinfo" href="/books/NBK583531#lchad.GeneReview_Scope" target="NBK583531">GeneReview Scope</a> | <a class="medgenPMinfo" href="/books/NBK583531#lchad.Diagnosis" target="NBK583531">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK583531#lchad.Clinical_Characteristics" target="NBK583531">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK583531#lchad.Genetically_Related_Allelic_Disord" target="NBK583531">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK583531#lchad.Differential_Diagnosis" target="NBK583531">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK583531#lchad.Management" target="NBK583531">Management</a> | <a class="medgenPMinfo" href="/books/NBK583531#lchad.Genetic_Counseling" target="NBK583531">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK583531#lchad.Resources" target="NBK583531">Resources</a> | <a class="medgenPMinfo" href="/books/NBK583531#lchad.Molecular_Genetics" target="NBK583531">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK583531#lchad.Chapter_Notes" target="NBK583531">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK583531#lchad.References" target="NBK583531">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Pankaj Prasun | Mary Kate LoPiccolo | Ilona Ginevic <a href="/books/NBK583531" target="NBK583531" title="NCBI Bookshelf: Long-Chain Hydroxyacyl-CoA Dehydrogenase Deficiency / Trifunctional Protein Deficiency">view full author information</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_descriptions">Additional descriptions</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />Isolated deficiency of long-chain 3-hydroxyl-CoA dehydrogenase (LCHAD) is an autosomal recessive disorder characterized by early-onset cardiomyopathy, hypoglycemia, neuropathy, and pigmentary retinopathy, and sudden death (IJlst et al., 1996). <a target="_blank" href="http://www.omim.org/entry/609016">http://www.omim.org/entry/609016</a></div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency is a rare condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting).<br /><br />Signs and symptoms of LCHAD deficiency typically appear during infancy or early childhood. Many affected infants have feeding difficulties, such as an extreme dislike of certain foods or of eating at all (food or feeding aversion), nausea, and vomiting. Other signs and symptoms include lack of energy (lethargy), low blood glucose (hypoglycemia), weak muscle tone (hypotonia), delayed development of milestones, liver problems, and abnormalities in the light-sensitive tissue at the back of the eye (retina). Affected individuals can have impaired vision or difficulty seeing things far away (myopia) or in low light (night blindness). These vision problems worsen over time. Later in childhood, people with this condition may experience muscle pain, breakdown of muscle tissue (rhabdomyolysis), and a loss of sensation in their arms and legs (peripheral neuropathy). Infants and children with LCHAD deficiency are also at risk of serious heart problems, such as a weakened heart (cardiomyopathy) and heart failure; breathing difficulties; coma; and sudden death.<br /><br />Problems related to LCHAD deficiency can be triggered when the body is under stress, for example during periods of fasting, illnesses such as viral infections, or weather extremes. This disorder is sometimes mistaken for Reye syndrome, a severe disorder that may develop in children while they appear to be recovering from viral infections such as chicken pox or flu. Most cases of Reye syndrome are associated with the use of aspirin during these viral infections. <a target="_blank" href="https://medlineplus.gov/genetics/condition/long-chain-3-hydroxyacyl-coa-dehydrogenase-deficiency">https://medlineplus.gov/genetics/condition/long-chain-3-hydroxyacyl-coa-dehydrogenase-deficiency</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_8257"><div><strong>Sudden death</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8257</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0011071</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Rapid and unexpected death.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/8257">Feature record</a> | <a href="/medgen?term=%22Sudden%20death%22%5BClinical%20Features%5D%20OR%208257%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_209232"><div><strong>Cardiomyopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>209232</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0878544</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/209232">Feature record</a> | <a href="/medgen?term=%22Cardiomyopathy%22%5BClinical%20Features%5D%20OR%20209232%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_42428"><div><strong>Hepatomegaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>42428</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0019209</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormally increased size of the liver.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/42428">Feature record</a> | <a href="/medgen?term=%22Hepatomegaly%22%5BClinical%20Features%5D%20OR%2042428%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10133"><div><strong>Hypotonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10133</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0026827</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10133">Feature record</a> | <a href="/medgen?term=%22Hypotonia%22%5BClinical%20Features%5D%20OR%2010133%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_6979"><div><strong>Hypoglycemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6979</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0020615</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A decreased concentration of glucose in the blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/6979">Feature record</a> | <a href="/medgen?term=%22Hypoglycemia%22%5BClinical%20Features%5D%20OR%206979%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1381484"><div><strong>Decreased 3-hydroxyacyl-CoA dehydrogenase level</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1381484</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4477062</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1381484">Feature record</a> | <a href="/medgen?term=%22Decreased%203-hydroxyacyl-CoA%20dehydrogenase%20level%22%5BClinical%20Features%5D%20OR%201381484%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1643295"><div><strong>Pigmentary retinopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1643295</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4551715</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormality of the retina characterized by pigment deposition. It is typically associated with migration and proliferation of macrophages or retinal pigment epithelial cells into the retina; melanin from these cells causes the pigmentary changes. Pigmentary retinopathy is a common final pathway of many retinal conditions and is often associated with visual loss.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1643295">Feature record</a> | <a href="/medgen?term=%22Pigmentary%20retinopathy%22%5BClinical%20Features%5D%20OR%201643295%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of metabolism/homeostasis</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1381484" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased 3-hydroxyacyl-CoA dehydrogenase level</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6979" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypoglycemia</a></span></li></ul></li><li><span class="TLline">Abnormality of the cardiovascular system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_209232" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cardiomyopathy</a></span></li></ul></li><li><span class="TLline">Abnormality of the digestive system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_42428" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hepatomegaly</a></span></li></ul></li><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1643295" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pigmentary retinopathy</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10133" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypotonia</a></span></li></ul></li><li><span class="TLline">Constitutional symptom</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_8257" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sudden death</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3711645[DISCUI]&test_type=Clinical" ref="ncbi_uid=778253">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=778253" target="_blank" href="/omim/600890">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK583531/" ref="ncbi_uid=778253">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=778253" ref="ncbi_uid=778253">V</a></span></span><span class="TLline">Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/266222" ref="tree=MeSH" title="MedGen record for Deficiency of 3-hydroxyacyl-CoA dehydrogenase">Deficiency of 3-hydroxyacyl-CoA dehydrogenase</a></span><ul><li><span class="matched_ds">Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency</span></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35383965">Genetic, biochemical, and clinical spectrum of patients with mitochondrial trifunctional protein deficiency identified after the introduction of newborn screening in the Netherlands.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schwantje M,
|
||
Fuchs SA,
|
||
de Boer L,
|
||
Bosch AM,
|
||
Cuppen I,
|
||
Dekkers E,
|
||
Derks TGJ,
|
||
Ferdinandusse S,
|
||
Ijlst L,
|
||
Houtkooper RH,
|
||
Maase R,
|
||
van der Pol WL,
|
||
de Vries MC,
|
||
Verschoof-Puite RK,
|
||
Wanders RJA,
|
||
Williams M,
|
||
Wijburg F,
|
||
Visser G</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2022 Jul;45(4):804-818.
|
||
Epub 2022 Apr 19
|
||
doi: 10.1002/jimd.12502.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35383965" target="_blank">35383965</a><a href="/pmc/articles/PMC9546250" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34578803">Impact of Newborn Screening and Early Dietary Management on Clinical Outcome of Patients with Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency and Medium Chain Acyl-CoA Dehydrogenase Deficiency-A Retrospective Nationwide Study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rücklová K,
|
||
Hrubá E,
|
||
Pavlíková M,
|
||
Hanák P,
|
||
Farolfi M,
|
||
Chrastina P,
|
||
Vlášková H,
|
||
Kousal B,
|
||
Smolka V,
|
||
Foltenová H,
|
||
Adam T,
|
||
Friedecký D,
|
||
Ješina P,
|
||
Zeman J,
|
||
Kožich V,
|
||
Honzík T</span><br />
|
||
<span class="medgenPMjournal">Nutrients</span>
|
||
2021 Aug 24;13(9)
|
||
doi: 10.3390/nu13092925.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34578803" target="_blank">34578803</a><a href="/pmc/articles/PMC8469775" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26368264">Heptadecanoylcarnitine (C17) a novel candidate biomarker for newborn screening of propionic and methylmalonic acidemias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Malvagia S,
|
||
Haynes CA,
|
||
Grisotto L,
|
||
Ombrone D,
|
||
Funghini S,
|
||
Moretti E,
|
||
McGreevy KS,
|
||
Biggeri A,
|
||
Guerrini R,
|
||
Yahyaoui R,
|
||
Garg U,
|
||
Seeterlin M,
|
||
Chace D,
|
||
De Jesus VR,
|
||
la Marca G</span><br />
|
||
<span class="medgenPMjournal">Clin Chim Acta</span>
|
||
2015 Oct 23;450:342-8.
|
||
Epub 2015 Sep 11
|
||
doi: 10.1016/j.cca.2015.09.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26368264" target="_blank">26368264</a><a href="/pmc/articles/PMC5577792" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22long%20chain%203-hydroxyacyl-coa%20dehydrogenase%20deficiency%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (14)</a></div><h3 class="subhead">Curated<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpCurated"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3><h3 class="nl vspace"><a href="https://www.acmg.net/PDFLibrary/C16-OH-C18-Algorithm.pdf" target="_blank">American College of Medical Genetics and Genomics, Algorithm, LCHAD/TFP: C16-OH Elevated +/-C18-OH, 2022</a></h3>
|
||
</div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38501492">Cardiac phenotype in adolescents and young adults with long-chain 3-hydroxyacyl CoA dehydrogenase (LCHAD) deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Elizondo G,
|
||
Saini A,
|
||
Gonzalez de Alba C,
|
||
Gregor A,
|
||
Harding CO,
|
||
Gillingham MB,
|
||
Vinocur JM</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2024 Jun;26(6):101123.
|
||
Epub 2024 Mar 16
|
||
doi: 10.1016/j.gim.2024.101123.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38501492" target="_blank">38501492</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31730477">Evaluation of earlier versus later dietary management in long-chain 3-hydroxyacyl-CoA dehydrogenase or mitochondrial trifunctional protein deficiency: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fraser H,
|
||
Geppert J,
|
||
Johnson R,
|
||
Johnson S,
|
||
Connock M,
|
||
Clarke A,
|
||
Taylor-Phillips S,
|
||
Stinton C</span><br />
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<span class="medgenPMjournal">Orphanet J Rare Dis</span>
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2019 Nov 15;14(1):258.
|
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doi: 10.1186/s13023-019-1226-y.
|
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<span class="bold">PMID: </span><a href="/pubmed/31730477" target="_blank">31730477</a><a href="/pmc/articles/PMC6858661" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/27931031">Round Table Discussion.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Winter S,
|
||
Buist NR,
|
||
Longo N,
|
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Armenian SH,
|
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Lopaschuk G,
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Wasilewska A</span><br />
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<span class="medgenPMjournal">Ann Nutr Metab</span>
|
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2016;68 Suppl 3:21-23.
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Epub 2016 Dec 9
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doi: 10.1159/000448323.
|
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<span class="bold">PMID: </span><a href="/pubmed/27931031" target="_blank">27931031</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/27078015">Ultra-Wide-Field Autofluorescence in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency Chorioretinopathy.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Yonekawa Y,
|
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Thomas BJ,
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Capone A Jr</span><br />
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<span class="medgenPMjournal">JAMA Ophthalmol</span>
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2016 Apr;134(4):e155033.
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Epub 2016 Apr 14
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doi: 10.1001/jamaophthalmol.2015.5033.
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<span class="bold">PMID: </span><a href="/pubmed/27078015" target="_blank">27078015</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/10229030">Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Tyni T,
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Pihko H</span><br />
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<span class="medgenPMjournal">Acta Paediatr</span>
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1999 Mar;88(3):237-45.
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doi: 10.1080/08035259950169954.
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<span class="bold">PMID: </span><a href="/pubmed/10229030" target="_blank">10229030</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Long%20chain%203-hydroxyacyl-CoA%20dehydrogenase%20deficiency%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (36)</a></div><h3 class="subhead">Diagnosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/31025818">Serial fatty acid profiles in a preterm infant with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Suganuma H,
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McPhee AJ,
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<div class="nl"><a target="_blank" href="/pubmed/31047310">Retinal Dystrophy in Long-Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Androudi S,
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Mataftsi A,
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<div class="nl"><a target="_blank" href="/pubmed/27078015">Ultra-Wide-Field Autofluorescence in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency Chorioretinopathy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Yonekawa Y,
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Thomas BJ,
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Capone A Jr</span><br />
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<span class="medgenPMjournal">JAMA Ophthalmol</span>
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2016 Apr;134(4):e155033.
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<span class="bold">PMID: </span><a href="/pubmed/27078015" target="_blank">27078015</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/10518286">Neonatal diagnosis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and implications for newborn screening by tandem mass spectrometry.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Carpenter KH,
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Wilcken B</span><br />
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<span class="medgenPMjournal">J Inherit Metab Dis</span>
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1999 Oct;22(7):840-1.
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doi: 10.1023/a:1005566309942.
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<span class="bold">PMID: </span><a href="/pubmed/10518286" target="_blank">10518286</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/10229030">Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Tyni T,
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Pihko H</span><br />
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<span class="medgenPMjournal">Acta Paediatr</span>
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1999 Mar;88(3):237-45.
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doi: 10.1080/08035259950169954.
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<span class="bold">PMID: </span><a href="/pubmed/10229030" target="_blank">10229030</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Long%20chain%203-hydroxyacyl-CoA%20dehydrogenase%20deficiency%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (58)</a></div><h3 class="subhead">Therapy</h3>
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<div class="nl"><a target="_blank" href="/pubmed/27931031">Round Table Discussion.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Winter S,
|
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Buist NR,
|
||
Longo N,
|
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Armenian SH,
|
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Lopaschuk G,
|
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Wasilewska A</span><br />
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<span class="medgenPMjournal">Ann Nutr Metab</span>
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2016;68 Suppl 3:21-23.
|
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Epub 2016 Dec 9
|
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doi: 10.1159/000448323.
|
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<span class="bold">PMID: </span><a href="/pubmed/27931031" target="_blank">27931031</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26676313">Earlier diagnosis and strict diets improve the survival rate and clinical course of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Immonen T,
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Turanlahti M,
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Keskinen P,
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<span class="bold">PMID: </span><a href="/pubmed/26676313" target="_blank">26676313</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/10518285">Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: neonatal manifestation at the first day of life presenting with tachypnoea.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Thiel C,
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Schnackenberg U,
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<span class="bold">PMID: </span><a href="/pubmed/10518285" target="_blank">10518285</a></div>
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|
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<div class="nl"><a target="_blank" href="/pubmed/10384386">Docosahexaenoic acid and retinal function in children with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Harding CO,
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Gillingham MB,
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|
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|
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<div class="nl"><a target="_blank" href="/pubmed/1527994">Fatal outcome in a patient with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Ribes A,
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Riudor E,
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Navarro C,
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Boronat M,
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Marti M,
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<span class="bold">PMID: </span><a href="/pubmed/1527994" target="_blank">1527994</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Long%20chain%203-hydroxyacyl-CoA%20dehydrogenase%20deficiency%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (19)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38372965">Tracer-based lipidomics enables the discovery of disease-specific candidate biomarkers in mitochondrial β-oxidation disorders.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Schwantje M,
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Mosegaard S,
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Knottnerus SJG,
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van Klinken JB,
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Wanders RJ,
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van Lenthe H,
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Hermans J,
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IJlst L,
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Denis SW,
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Jaspers YRJ,
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Fuchs SA,
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Houtkooper RH,
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Ferdinandusse S,
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Vaz FM</span><br />
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<span class="medgenPMjournal">FASEB J</span>
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2024 Feb 29;38(4):e23478.
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doi: 10.1096/fj.202302163R.
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<span class="bold">PMID: </span><a href="/pubmed/38372965" target="_blank">38372965</a></div>
|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/27078015">Ultra-Wide-Field Autofluorescence in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency Chorioretinopathy.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Yonekawa Y,
|
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Thomas BJ,
|
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Capone A Jr</span><br />
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<span class="medgenPMjournal">JAMA Ophthalmol</span>
|
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2016 Apr;134(4):e155033.
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Epub 2016 Apr 14
|
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doi: 10.1001/jamaophthalmol.2015.5033.
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<span class="bold">PMID: </span><a href="/pubmed/27078015" target="_blank">27078015</a></div>
|
||
|
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<div class="nl"><a target="_blank" href="/pubmed/11773547">Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: clinical presentation and follow-up of 50 patients.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">den Boer ME,
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Wanders RJ,
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Morris AA,
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IJlst L,
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<span class="bold">PMID: </span><a href="/pubmed/11773547" target="_blank">11773547</a></div>
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|
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<div class="nl"><a target="_blank" href="/pubmed/10518286">Neonatal diagnosis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and implications for newborn screening by tandem mass spectrometry.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Carpenter KH,
|
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Wilcken B</span><br />
|
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<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
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1999 Oct;22(7):840-1.
|
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doi: 10.1023/a:1005566309942.
|
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<span class="bold">PMID: </span><a href="/pubmed/10518286" target="_blank">10518286</a></div>
|
||
|
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<div class="nl"><a target="_blank" href="/pubmed/10229030">Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tyni T,
|
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Pihko H</span><br />
|
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<span class="medgenPMjournal">Acta Paediatr</span>
|
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1999 Mar;88(3):237-45.
|
||
doi: 10.1080/08035259950169954.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10229030" target="_blank">10229030</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Long%20chain%203-hydroxyacyl-CoA%20dehydrogenase%20deficiency%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (28)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38372965">Tracer-based lipidomics enables the discovery of disease-specific candidate biomarkers in mitochondrial β-oxidation disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schwantje M,
|
||
Mosegaard S,
|
||
Knottnerus SJG,
|
||
van Klinken JB,
|
||
Wanders RJ,
|
||
van Lenthe H,
|
||
Hermans J,
|
||
IJlst L,
|
||
Denis SW,
|
||
Jaspers YRJ,
|
||
Fuchs SA,
|
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Houtkooper RH,
|
||
Ferdinandusse S,
|
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Vaz FM</span><br />
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<span class="medgenPMjournal">FASEB J</span>
|
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2024 Feb 29;38(4):e23478.
|
||
doi: 10.1096/fj.202302163R.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38372965" target="_blank">38372965</a></div>
|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/38015438">Long-term prognosis of fatty-acid oxidation disorders in adults: Optimism despite the limited effective therapies available.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Rouyer A,
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Tard C,
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Dessein AF,
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Spinazzi M,
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Bédat-Millet AL,
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Dimitri-Boulos D,
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Nadaj-Pakleza A,
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Nicolas G,
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Epub 2023 Nov 28
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<span class="bold">PMID: </span><a href="/pubmed/38015438" target="_blank">38015438</a><a href="/pmc/articles/PMC11235989" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/37644104">A G1528C Hadha knock-in mouse model recapitulates aspects of human clinical phenotypes for long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Gaston G,
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Babcock S,
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Ryals R,
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Elizondo G,
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DeVine T,
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Wafai D,
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Packwood W,
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Holden S,
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Raber J,
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<span class="bold">PMID: </span><a href="/pubmed/37644104" target="_blank">37644104</a><a href="/pmc/articles/PMC10465608" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/34578803">Impact of Newborn Screening and Early Dietary Management on Clinical Outcome of Patients with Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency and Medium Chain Acyl-CoA Dehydrogenase Deficiency-A Retrospective Nationwide Study.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Rücklová K,
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Hrubá E,
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Pavlíková M,
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Hanák P,
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Farolfi M,
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Chrastina P,
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Kousal B,
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Smolka V,
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Adam T,
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Friedecký D,
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Ješina P,
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Zeman J,
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Honzík T</span><br />
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<span class="medgenPMjournal">Nutrients</span>
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2021 Aug 24;13(9)
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<span class="bold">PMID: </span><a href="/pubmed/34578803" target="_blank">34578803</a><a href="/pmc/articles/PMC8469775" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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|
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<div class="nl"><a target="_blank" href="/pubmed/33392894">Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency and progressive retinopathy: one case report followed by ERGs, VEPs, EOG over a 17-year period.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Rigaudière F,
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Delouvrier E,
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Le Gargasson JF,
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Milani P,
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Ogier de Baulny H,
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Schiff M</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/33392894" target="_blank">33392894</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Long%20chain%203-hydroxyacyl-CoA%20dehydrogenase%20deficiency%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (15)</a></div></div>
|
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</div>
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|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
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<div class="portlet_content ln">
|
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<div class="nl"><a target="_blank" href="/pubmed/31730477">Evaluation of earlier versus later dietary management in long-chain 3-hydroxyacyl-CoA dehydrogenase or mitochondrial trifunctional protein deficiency: a systematic review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Fraser H,
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Geppert J,
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Johnson R,
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Johnson S,
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Connock M,
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Clarke A,
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Taylor-Phillips S,
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Stinton C</span><br />
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<span class="medgenPMjournal">Orphanet J Rare Dis</span>
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2019 Nov 15;14(1):258.
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doi: 10.1186/s13023-019-1226-y.
|
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<span class="bold">PMID: </span><a href="/pubmed/31730477" target="_blank">31730477</a><a href="/pmc/articles/PMC6858661" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/25022222">Systematic review and meta-analysis to estimate the birth prevalence of five inherited metabolic diseases.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Moorthie S,
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Cameron L,
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Sagoo GS,
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Bonham JR,
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Burton H</span><br />
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<span class="medgenPMjournal">J Inherit Metab Dis</span>
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2014 Nov;37(6):889-98.
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Epub 2014 Jul 15
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||
doi: 10.1007/s10545-014-9729-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25022222" target="_blank">25022222</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Long%20chain%203-hydroxyacyl-CoA%20dehydrogenase%20deficiency%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (2)</a></div></div>
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<div class="supplemental col three_col last">
|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
|
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<div>
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<!-- MedGen supplemental column starts here -->
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<div class="rightCol mgCol">
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<div class="portlet mgSection" id="ID_113">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C3711645%5bDISCUI%5d&filter=method%3A1%5F1" target="_blank">Analyte (3)</a></li>
|
||
<li><a href="/gtr/tests?term=C3711645%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (48)</a></li>
|
||
<li><a href="/gtr/tests?term=C3711645%5bDISCUI%5d&filter=method%3A1%5F2" target="_blank">Enzyme assay (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C3711645%5bDISCUI%5d&filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (4)</a></li>
|
||
<li><a href="/gtr/tests?term=C3711645%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (13)</a></li>
|
||
<li><a href="/gtr/tests?term=C3711645%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (66)</a></li>
|
||
<li><a href="/gtr/tests?term=C3711645%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (24)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C3711645%5bDISCUI%5d" target="_blank">See all (88)</a></total></li>
|
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</ul></div>
|
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|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=609016" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=5" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Long%20chain%203-hydroxyacyl-CoA%20dehydrogenase%20deficiency" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
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</div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22long%20chain%203-hydroxyacyl-coa%20dehydrogenase%20deficiency%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul><h3 class="subhead">Curated</h3><ul class="a_poppers"><li><a target="_blank" href="https://www.acmg.net/PDFLibrary/C16-OH-C18-Algorithm.pdf">ACMG Algorithm, 2022</a><div>American College of Medical Genetics and Genomics, Algorithm, LCHAD/TFP: C16-OH Elevated +/-C18-OH, 2022</div></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_115">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=600890" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=3030[geneid]" target="_blank">View HADHA variations in ClinVar</a></li><li><a href="/nuccore/161086967" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=609016" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
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</div>
|
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<div class="portlet mgSection" id="ID_116">
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|
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<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/LCHAD+deficiency/4126" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/long_chain_3_hydroxyacyl_coa_dehydrogenase_deficiency" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Long%20chain%203-hydroxyacyl-CoA%20dehydrogenase%20deficiency" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/long-chain-3-hydroxyacyl-coa-dehydrogenase-deficiency" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/6867/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
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|
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<a href="/pubmed/36063482" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
||
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|
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|
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<a href="/pubmed/clinical?term=Long%20chain%203-hydroxyacyl-CoA%20dehydrogenase%20deficiency" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
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|
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<a href="/pubmed?term=Long%20chain%203-hydroxyacyl-CoA%20dehydrogenase%20deficiency%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
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|
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<h3>Related information</h3>
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<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
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<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C3711645[DISCUI]" ref="log$=recordlinks">GTR</a>
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<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C3711645[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
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<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=778253" ref="log$=recordlinks">PubMed (GeneReviews)</a>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=778253" ref="log$=recordlinks">PubMed (OMIM)</a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67ca76dfb15b832ebc5467fe">Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency</a>
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<div class="ralinkpop offscreen_noflow">Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency<div class="brieflinkpopdesc"></div></div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67ca76ddb15b832ebc545c5e">C3150953[trait identifier] AND "Labcorp Genetics (formerly Invita... <span class="number">(97)</span></a>
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<div class="ralinkpop offscreen_noflow">C3150953[trait identifier] AND "Labcorp Genetics (formerly Invitae), Labcorp"[submitter]<div class="brieflinkpopdesc">Search</div></div>
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