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<meta name="keywords" content="3-@hydroxyacyl-coa dehydrogenase deficiency, 3-alpha hydroxyacyl-coa dehydrogenase deficiency, 3-alpha-hydroxyacyl-coenzyme a dehydrogenase deficiency, 3-hydroxyacyl-coa dehydrogenase deficiency, 3-hydroxyacyl-coenzyme a dehydrogenase deficiency, 3-hydroxylacyl-coa dehydrogenase deficiency, C1291230, deficiency of 3-hydroxyacyl-coa dehydrogenase, deficiency of beta-hydroxyacyl dehydrogenase, deficiency of beta-keto-reductase, disease or syndrome, had deficiency, hadh, hadh deficiency, hadhsc deficiency, l-3-alpha-hydroxyacyl-coa dehydrogenase, short chain, deficiency, m-schad deficiency, m/schad, medium and short chain 3-hydroxyacyl-coa dehydrogenase deficiency, schad deficiency, schad deficiency, formerly, 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="3-hydroxyacyl-CoA dehydrogenase deficiency is an inherited condition that prevents the body from converting certain fats to energy, particularly during prolonged periods without food (fasting).\n\nInitial signs and symptoms of this disorder typically occur during infancy or early childhood and can include poor appetite, vomiting, diarrhea, and lack of energy (lethargy). Affected individuals can also have muscle weakness (hypotonia), liver problems, low blood glucose (hypoglycemia), and abnormally high levels of insulin (hyperinsulinism). Insulin controls the amount of glucose that moves from the blood into cells for conversion to energy. Individuals with 3-hydroxyacyl-CoA dehydrogenase deficiency are also at risk for complications such as seizures, life-threatening heart and breathing problems, coma, and sudden death. This condition may explain some cases of sudden infant death syndrome (SIDS), which is defined as unexplained death in babies younger than 1 year.\n\nProblems related to 3-hydroxyacyl-CoA dehydrogenase deficiency can be triggered by periods of fasting or by illnesses such as viral infections. 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." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
|
||
UID=266222
|
||
ConceptID=C1291230
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Deficiency of 3-hydroxyacyl-CoA dehydrogenase<span class="h1sub">(M/SCHAD)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>266222</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:">C1291230</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>3-alpha hydroxyacyl-CoA dehydrogenase deficiency; 3-hydroxyacyl-CoA dehydrogenase deficiency; 3-Hydroxyacyl-Coenzyme A Dehydrogenase Deficiency; 3-hydroxylacyl-CoA dehydrogenase deficiency; HADH DEFICIENCY; M/SCHAD; Medium and short chain 3-hydroxyacyl-CoA dehydrogenase deficiency</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Deficiency of beta-keto-reductase (124122005); Deficiency of beta-hydroxyacyl dehydrogenase (124122005); Deficiency of 3-hydroxyacyl-CoA dehydrogenase (124122005)</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="HADH - ID: 3033 - NCBI Gene" href="/gene/3033" class="medgenPMinfo">HADH</a> (4q25)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0017715" target="_blank">MONDO:0017715</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/231530" target="_blank">231530</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=309127">ORPHA309127</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>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">3-hydroxyacyl-CoA dehydrogenase deficiency is an inherited condition that prevents the body from converting certain fats to energy, particularly during prolonged periods without food (fasting).<br /><br />Initial signs and symptoms of this disorder typically occur during infancy or early childhood and can include poor appetite, vomiting, diarrhea, and lack of energy (lethargy). Affected individuals can also have muscle weakness (hypotonia), liver problems, low blood glucose (hypoglycemia), and abnormally high levels of insulin (hyperinsulinism). Insulin controls the amount of glucose that moves from the blood into cells for conversion to energy. Individuals with 3-hydroxyacyl-CoA dehydrogenase deficiency are also at risk for complications such as seizures, life-threatening heart and breathing problems, coma, and sudden death. This condition may explain some cases of sudden infant death syndrome (SIDS), which is defined as unexplained death in babies younger than 1 year.<br /><br />Problems related to 3-hydroxyacyl-CoA dehydrogenase deficiency can be triggered by periods of fasting or by illnesses such as viral infections. 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. [from <a title="MedlinePlus Genetics" href="https://medlineplus.gov/genetics/" class="defSource" target="_blank">MedlinePlus Genetics</a>]</div>
|
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</div>
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<div class="portlet mgSection" id="ID_102">
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<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_44557"><div><strong>Hereditary myoglobinuria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>44557</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.">C0027080</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Presence of myoglobin in the urine.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/44557">Feature record</a> | <a href="/medgen?term=%22Hereditary%20myoglobinuria%22%5BClinical%20Features%5D%20OR%2044557%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_343550"><div><strong>Dicarboxylic aciduria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343550</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.">C1856432</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increased concentration of dicarboxylic acid in the urine.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/343550">Feature record</a> | <a href="/medgen?term=%22Dicarboxylic%20aciduria%22%5BClinical%20Features%5D%20OR%20343550%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_2880"><div><strong>Primary dilated cardiomyopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2880</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.">C0007193</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Familial dilated cardiomyopathy is a genetic form of heart disease. It occurs when heart (cardiac) muscle becomes thin and weakened in at least one chamber of the heart, causing the open area of the chamber to become enlarged (dilated). As a result, the heart is unable to pump blood as efficiently as usual. To compensate, the heart attempts to increase the amount of blood being pumped through the heart, leading to further thinning and weakening of the cardiac muscle. Over time, this condition results in heart failure.\n\nIt usually takes many years for symptoms of familial dilated cardiomyopathy to cause health problems. They typically begin in mid-adulthood, but can occur at any time from infancy to late adulthood. Signs and symptoms of familial dilated cardiomyopathy can include an irregular heartbeat (arrhythmia), shortness of breath (dyspnea), extreme tiredness (fatigue), fainting episodes (syncope), and swelling of the legs and feet. In some cases, the first sign of the disorder is sudden cardiac death. The severity of the condition varies among affected individuals, even in members of the same family.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/2880">Feature record</a> | <a href="/medgen?term=%22Primary%20dilated%20cardiomyopathy%22%5BClinical%20Features%5D%20OR%202880%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_2881"><div><strong>Hypertrophic cardiomyopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2881</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.">C0007194</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/2881">Feature record</a> | <a href="/medgen?term=%22Hypertrophic%20cardiomyopathy%22%5BClinical%20Features%5D%20OR%202881%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_99124"><div><strong>Growth delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>99124</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.">C0456070</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A deficiency or slowing down of growth pre- and postnatally.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/99124">Feature record</a> | <a href="/medgen?term=%22Growth%20delay%22%5BClinical%20Features%5D%20OR%2099124%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57487"><div><strong>Hepatic necrosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57487</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.">C0151798</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of cell death (necrosis) affecting the liver.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57487">Feature record</a> | <a href="/medgen?term=%22Hepatic%20necrosis%22%5BClinical%20Features%5D%20OR%2057487%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_436211"><div><strong>Feeding difficulties in infancy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>436211</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.">C2674608</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/436211">Feature record</a> | <a href="/medgen?term=%22Feeding%20difficulties%20in%20infancy%22%5BClinical%20Features%5D%20OR%20436211%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_398225"><div><strong>Hepatic steatosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>398225</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.">C2711227</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Steatosis is a term used to denote lipid accumulation within hepatocytes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/398225">Feature record</a> | <a href="/medgen?term=%22Hepatic%20steatosis%22%5BClinical%20Features%5D%20OR%20398225%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1830332"><div><strong>Fulminant hepatic failure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1830332</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.">C5779644</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hepatic failure refers to the inability of the liver to perform its normal synthetic and metabolic functions, which can result in coagulopathy and alteration in the mental status of a previously healthy individual. Hepatic failure is defined as fulminant if there is onset of encephalopathy within 4 weeks of the onset of symptoms in a patient with a previously healthy liver.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1830332">Feature record</a> | <a href="/medgen?term=%22Fulminant%20hepatic%20failure%22%5BClinical%20Features%5D%20OR%201830332%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_101772"><div><strong>Hypoglycemic encephalopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>101772</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.">C0149877</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Brain damage related to a lowering of blood glucose below a critical level (around 30 mg/dl), which may lead to confusion, lethargy and delirium followed by seizures and coma. Prolonged hypoglycemia may lead to irreversible brain damage.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/101772">Feature record</a> | <a href="/medgen?term=%22Hypoglycemic%20encephalopathy%22%5BClinical%20Features%5D%20OR%20101772%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_164079"><div><strong>Hypoglycemic seizures</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>164079</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.">C0877056</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/164079">Feature record</a> | <a href="/medgen?term=%22Hypoglycemic%20seizures%22%5BClinical%20Features%5D%20OR%20164079%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_346841"><div><strong>Generalized hypotonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>346841</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.">C1858120</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Generalized muscular hypotonia (abnormally low muscle tone).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/346841">Feature record</a> | <a href="/medgen?term=%22Generalized%20hypotonia%22%5BClinical%20Features%5D%20OR%20346841%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_344733"><div><strong>Hypoketotic hypoglycemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>344733</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.">C1856438</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A decreased concentration of glucose in the blood associated with a reduced concentration of ketone bodies.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/344733">Feature record</a> | <a href="/medgen?term=%22Hypoketotic%20hypoglycemia%22%5BClinical%20Features%5D%20OR%20344733%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="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_344733" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypoketotic 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_2881" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypertrophic cardiomyopathy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_2880" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Primary dilated 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_436211" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Feeding difficulties in infancy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1830332" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fulminant hepatic failure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57487" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hepatic necrosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_398225" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hepatic steatosis</a></span></li></ul></li><li><span class="TLline">Abnormality of the genitourinary system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_343550" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dicarboxylic aciduria</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_44557" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hereditary myoglobinuria</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_346841" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Generalized hypotonia</a></span></li><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">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_101772" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypoglycemic encephalopathy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_164079" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypoglycemic seizures</a></span></li></ul></li><li><span class="TLline">Growth abnormality</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_99124" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Growth delay</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><li><a href="#tabORDO">Orphanet</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=C1291230[DISCUI]&test_type=Clinical" ref="ncbi_uid=266222">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=266222" target="_blank" href="/omim/231530">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=266222" ref="ncbi_uid=266222">V</a></span></span><span class="TLline">Deficiency of 3-hydroxyacyl-CoA dehydrogenase</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="matched_ds">Deficiency of 3-hydroxyacyl-CoA dehydrogenase</span><ul><li><span class="TLline"><a href="/medgen/400646" ref="tree=MeSH" title="MedGen record for Hyperinsulinemic hypoglycemia, familial, 4">Hyperinsulinemic hypoglycemia, familial, 4</a></span></li><li><span class="TLline"><a href="/medgen/778253" ref="tree=MeSH" title="MedGen record for Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency">Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency</a></span></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=21345&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Deficiency of 3-hydroxyacyl-CoA dehydrogenase</span> in Orphanet.</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/31241292">Epidemiology of rare diseases detected by newborn screening in the Czech Republic.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">David J,
|
||
Chrastina P,
|
||
Pešková K,
|
||
Kožich V,
|
||
Friedecký D,
|
||
Adam T,
|
||
Hlídková E,
|
||
Vinohradská H,
|
||
Novotná D,
|
||
Hedelová M,
|
||
Al Taji E,
|
||
Holubová A,
|
||
Skalická V,
|
||
Macek M,
|
||
Gaillyová R,
|
||
Votava F</span><br />
|
||
<span class="medgenPMjournal">Cent Eur J Public Health</span>
|
||
2019 Jun;27(2):153-159.
|
||
doi: 10.21101/cejph.a5441.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31241292" target="_blank">31241292</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29519241">Clinical and genetic characteristics of patients with fatty acid oxidation disorders identified by newborn screening.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kang E,
|
||
Kim YM,
|
||
Kang M,
|
||
Heo SH,
|
||
Kim GH,
|
||
Choi IH,
|
||
Choi JH,
|
||
Yoo HW,
|
||
Lee BH</span><br />
|
||
<span class="medgenPMjournal">BMC Pediatr</span>
|
||
2018 Mar 8;18(1):103.
|
||
doi: 10.1186/s12887-018-1069-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29519241" target="_blank">29519241</a><a href="/pmc/articles/PMC5842515" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28291236">Acute Fatty Liver Disease of Pregnancy: Updates in Pathogenesis, Diagnosis, and Management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liu J,
|
||
Ghaziani TT,
|
||
Wolf JL</span><br />
|
||
<span class="medgenPMjournal">Am J Gastroenterol</span>
|
||
2017 Jun;112(6):838-846.
|
||
Epub 2017 Mar 14
|
||
doi: 10.1038/ajg.2017.54.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28291236" target="_blank">28291236</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(deficiency%20of%203-hydroxyacyl-coa%20dehydrogenase)%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 (23)</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/C4-OH.pdf" target="_blank">American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Elevated C4-OH Acylcarnitine, Short Chain Hydroxyacyl-CoA Dehydrogenase (SCHAD) Deficiency, 2022</a></h3>
|
||
<h3 class="nl vspace"><a href="https://www.acmg.net/PDFLibrary/C4-OH-Algorithm.pdf" target="_blank">American College of Medical Genetics and Genomics, Algorithm, C4-OH Elevated: SCHAD Deficiency, 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/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 />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2019 Nov 15;14(1):258.
|
||
doi: 10.1186/s13023-019-1226-y.
|
||
<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>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28291236">Acute Fatty Liver Disease of Pregnancy: Updates in Pathogenesis, Diagnosis, and Management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liu J,
|
||
Ghaziani TT,
|
||
Wolf JL</span><br />
|
||
<span class="medgenPMjournal">Am J Gastroenterol</span>
|
||
2017 Jun;112(6):838-846.
|
||
Epub 2017 Mar 14
|
||
doi: 10.1038/ajg.2017.54.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28291236" target="_blank">28291236</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27931031">Round Table Discussion.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Winter S,
|
||
Buist NR,
|
||
Longo N,
|
||
Armenian SH,
|
||
Lopaschuk G,
|
||
Wasilewska A</span><br />
|
||
<span class="medgenPMjournal">Ann Nutr Metab</span>
|
||
2016;68 Suppl 3:21-23.
|
||
Epub 2016 Dec 9
|
||
doi: 10.1159/000448323.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27931031" target="_blank">27931031</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27078015">Ultra-Wide-Field Autofluorescence in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency Chorioretinopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yonekawa Y,
|
||
Thomas BJ,
|
||
Capone A Jr</span><br />
|
||
<span class="medgenPMjournal">JAMA Ophthalmol</span>
|
||
2016 Apr;134(4):e155033.
|
||
Epub 2016 Apr 14
|
||
doi: 10.1001/jamaophthalmol.2015.5033.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27078015" target="_blank">27078015</a></div>
|
||
|
||
<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,
|
||
Pihko H</span><br />
|
||
<span class="medgenPMjournal">Acta Paediatr</span>
|
||
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=%22Deficiency%20of%203-hydroxyacyl-CoA%20dehydrogenase%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 (94)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31047310">Retinal Dystrophy in Long-Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Androudi S,
|
||
Mataftsi A,
|
||
Brazitikos P</span><br />
|
||
<span class="medgenPMjournal">Ophthalmol Retina</span>
|
||
2018 Jan;2(1):74.
|
||
Epub 2018 Jan 3
|
||
doi: 10.1016/j.oret.2017.09.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31047310" target="_blank">31047310</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28291236">Acute Fatty Liver Disease of Pregnancy: Updates in Pathogenesis, Diagnosis, and Management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liu J,
|
||
Ghaziani TT,
|
||
Wolf JL</span><br />
|
||
<span class="medgenPMjournal">Am J Gastroenterol</span>
|
||
2017 Jun;112(6):838-846.
|
||
Epub 2017 Mar 14
|
||
doi: 10.1038/ajg.2017.54.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28291236" target="_blank">28291236</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20936362">The hyperinsulinism/hyperammonemia syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Palladino AA,
|
||
Stanley CA</span><br />
|
||
<span class="medgenPMjournal">Rev Endocr Metab Disord</span>
|
||
2010 Sep;11(3):171-8.
|
||
doi: 10.1007/s11154-010-9146-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20936362" target="_blank">20936362</a></div>
|
||
|
||
<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,
|
||
Wilcken B</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
1999 Oct;22(7):840-1.
|
||
doi: 10.1023/a:1005566309942.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10518286" target="_blank">10518286</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8795843">Metabolic myopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tein I</span><br />
|
||
<span class="medgenPMjournal">Semin Pediatr Neurol</span>
|
||
1996 Jun;3(2):59-98.
|
||
doi: 10.1016/s1071-9091(96)80038-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8795843" target="_blank">8795843</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Deficiency%20of%203-hydroxyacyl-CoA%20dehydrogenase%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 (167)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/27931031">Round Table Discussion.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Winter S,
|
||
Buist NR,
|
||
Longo N,
|
||
Armenian SH,
|
||
Lopaschuk G,
|
||
Wasilewska A</span><br />
|
||
<span class="medgenPMjournal">Ann Nutr Metab</span>
|
||
2016;68 Suppl 3:21-23.
|
||
Epub 2016 Dec 9
|
||
doi: 10.1159/000448323.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27931031" target="_blank">27931031</a></div>
|
||
|
||
<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>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thiel C,
|
||
Baudach S,
|
||
Schnackenberg U,
|
||
Vreken P,
|
||
Wanders RJ</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
1999 Oct;22(7):839-40.
|
||
doi: 10.1023/a:1005514325872.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10518285" target="_blank">10518285</a></div>
|
||
|
||
<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>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Harding CO,
|
||
Gillingham MB,
|
||
van Calcar SC,
|
||
Wolff JA,
|
||
Verhoeve JN,
|
||
Mills MD</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
1999 May;22(3):276-80.
|
||
doi: 10.1023/a:1005502626406.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10384386" target="_blank">10384386</a><a href="/pmc/articles/PMC2694039" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9427163">L-3-hydroxyacyl-CoA dehydrogenase deficiency: two cases with pigmentary retinopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Uusimaa J,
|
||
Vainionpää L,
|
||
Similä S,
|
||
Miettinen R,
|
||
Nuutinen M</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
1997 Nov;20(6):848-50.
|
||
doi: 10.1023/a:1005356826192.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9427163" target="_blank">9427163</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2019931">Progressive neuropathy and recurrent myoglobinuria in a child with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dionisi Vici C,
|
||
Burlina AB,
|
||
Bertini E,
|
||
Bachmann C,
|
||
Mazziotta MR,
|
||
Zacchello F,
|
||
Sabetta G,
|
||
Hale DE</span><br />
|
||
<span class="medgenPMjournal">J Pediatr</span>
|
||
1991 May;118(5):744-6.
|
||
doi: 10.1016/s0022-3476(05)80039-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2019931" target="_blank">2019931</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Deficiency%20of%203-hydroxyacyl-CoA%20dehydrogenase%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 (43)</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>
|
||
<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,
|
||
Houtkooper RH,
|
||
Ferdinandusse S,
|
||
Vaz FM</span><br />
|
||
<span class="medgenPMjournal">FASEB J</span>
|
||
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>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28291236">Acute Fatty Liver Disease of Pregnancy: Updates in Pathogenesis, Diagnosis, and Management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liu J,
|
||
Ghaziani TT,
|
||
Wolf JL</span><br />
|
||
<span class="medgenPMjournal">Am J Gastroenterol</span>
|
||
2017 Jun;112(6):838-846.
|
||
Epub 2017 Mar 14
|
||
doi: 10.1038/ajg.2017.54.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28291236" target="_blank">28291236</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27078015">Ultra-Wide-Field Autofluorescence in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency Chorioretinopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yonekawa Y,
|
||
Thomas BJ,
|
||
Capone A Jr</span><br />
|
||
<span class="medgenPMjournal">JAMA Ophthalmol</span>
|
||
2016 Apr;134(4):e155033.
|
||
Epub 2016 Apr 14
|
||
doi: 10.1001/jamaophthalmol.2015.5033.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27078015" target="_blank">27078015</a></div>
|
||
|
||
<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,
|
||
Wilcken B</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
1999 Oct;22(7):840-1.
|
||
doi: 10.1023/a:1005566309942.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10518286" target="_blank">10518286</a></div>
|
||
|
||
<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,
|
||
Pihko H</span><br />
|
||
<span class="medgenPMjournal">Acta Paediatr</span>
|
||
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=%22Deficiency%20of%203-hydroxyacyl-CoA%20dehydrogenase%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 (67)</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,
|
||
Houtkooper RH,
|
||
Ferdinandusse S,
|
||
Vaz FM</span><br />
|
||
<span class="medgenPMjournal">FASEB J</span>
|
||
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>
|
||
|
||
<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>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rouyer A,
|
||
Tard C,
|
||
Dessein AF,
|
||
Spinazzi M,
|
||
Bédat-Millet AL,
|
||
Dimitri-Boulos D,
|
||
Nadaj-Pakleza A,
|
||
Chanson JB,
|
||
Nicolas G,
|
||
Douillard C,
|
||
Laforêt P</span><br />
|
||
<span class="medgenPMjournal">Eur J Neurol</span>
|
||
2024 Feb;31(2):e16138.
|
||
Epub 2023 Nov 28
|
||
doi: 10.1111/ene.16138.
|
||
<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>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28291236">Acute Fatty Liver Disease of Pregnancy: Updates in Pathogenesis, Diagnosis, and Management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liu J,
|
||
Ghaziani TT,
|
||
Wolf JL</span><br />
|
||
<span class="medgenPMjournal">Am J Gastroenterol</span>
|
||
2017 Jun;112(6):838-846.
|
||
Epub 2017 Mar 14
|
||
doi: 10.1038/ajg.2017.54.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28291236" target="_blank">28291236</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24148561">L-carnitine supplementation as a potential antioxidant therapy for inherited neurometabolic disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ribas GS,
|
||
Vargas CR,
|
||
Wajner M</span><br />
|
||
<span class="medgenPMjournal">Gene</span>
|
||
2014 Jan 10;533(2):469-76.
|
||
Epub 2013 Oct 19
|
||
doi: 10.1016/j.gene.2013.10.017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24148561" target="_blank">24148561</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22459206">Observations regarding retinopathy in mitochondrial trifunctional protein deficiencies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fletcher AL,
|
||
Pennesi ME,
|
||
Harding CO,
|
||
Weleber RG,
|
||
Gillingham MB</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2012 May;106(1):18-24.
|
||
Epub 2012 Mar 8
|
||
doi: 10.1016/j.ymgme.2012.02.015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22459206" target="_blank">22459206</a><a href="/pmc/articles/PMC3506186" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Deficiency%20of%203-hydroxyacyl-CoA%20dehydrogenase%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 (71)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
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<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>
|
||
<div class="portlet_content ln">
|
||
<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 />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2019 Nov 15;14(1):258.
|
||
doi: 10.1186/s13023-019-1226-y.
|
||
<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>
|
||
|
||
<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>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Moorthie S,
|
||
Cameron L,
|
||
Sagoo GS,
|
||
Bonham JR,
|
||
Burton H</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2014 Nov;37(6):889-98.
|
||
Epub 2014 Jul 15
|
||
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=%22Deficiency%20of%203-hydroxyacyl-CoA%20dehydrogenase%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>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
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<div class=" bottom">
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||
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</div>
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||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
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|
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<!-- MedGen supplemental column starts here -->
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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=C1291230%5bDISCUI%5d&filter=method%3A1%5F1" target="_blank">Analyte (3)</a></li>
|
||
<li><a href="/gtr/tests?term=C1291230%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (31)</a></li>
|
||
<li><a href="/gtr/tests?term=C1291230%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C1291230%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (39)</a></li>
|
||
<li><a href="/gtr/tests?term=C1291230%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (10)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1291230%5bDISCUI%5d" target="_blank">See all (48)</a></total></li>
|
||
</ul></div>
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||
<div class="portlet mgSection" id="ID_119">
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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=231530" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=309127" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Deficiency%20of%203-hydroxyacyl-CoA%20dehydrogenase" 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=(deficiency%20of%203-hydroxyacyl-coa%20dehydrogenase)%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/C4-OH.pdf">ACMG ACT, 2022</a><div>American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Elevated C4-OH Acylcarnitine, Short Chain Hydroxyacyl-CoA Dehydrogenase (SCHAD) Deficiency, 2022</div></li><li><a target="_blank" href="https://www.acmg.net/PDFLibrary/C4-OH-Algorithm.pdf">ACMG Algorithm, 2022</a><div>American College of Medical Genetics and Genomics, Algorithm, C4-OH Elevated: SCHAD Deficiency, 2022</div></li></ul></div>
|
||
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|
||
|
||
<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>
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||
<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=601609" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=3033[geneid]" target="_blank">View HADH variations in ClinVar</a></li><li><a href="/nuccore/297206739" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=231530" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Deficiency+of+3-hydroxyacyl-CoA+dehydrogenase/10196" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/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=Deficiency%20of%203-hydroxyacyl-CoA%20dehydrogenase" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/3-hydroxyacyl-coa-dehydrogenase-deficiency" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/21319/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
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|
||
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|
||
<div class="portlet brieflink">
|
||
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<ul>
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||
<a href="/pubmed/clinical?term=Deficiency%20of%203-hydroxyacyl-CoA%20dehydrogenase" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
|
||
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|
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<li>
|
||
<a href="/pubmed?term=Deficiency%20of%203-hydroxyacyl-CoA%20dehydrogenase%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
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|
||
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|
||
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|
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|
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<h3>Related information</h3>
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|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=266222" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=266222" ref="log$=recordlinks">Gene</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C1291230[DISCUI]" ref="log$=recordlinks">GTR</a>
|
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<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C1291230[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
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<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=266222" ref="log$=recordlinks">MeSH</a>
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<div class="brieflinkpop offscreen_noflow">Related Medical Subject Headings</div>
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<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=266222" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
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|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=266222" ref="log$=recordlinks">OMIM(Genes)</a>
|
||
<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=266222" ref="log$=recordlinks">PMC Articles</a>
|
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<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
|
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|
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<li class="brieflinkpopper">
|
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=266222" ref="log$=recordlinks">PubMed</a>
|
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<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
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||
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<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=266222" ref="log$=recordlinks">PubMed (OMIM)</a>
|
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<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
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|
||
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|
||
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<h3>Recent activity</h3>
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