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<meta name="keywords" content="C3887523, acadvl, acadvld, acyl-coa dehydrogenase very long chain deficiency, acyl-coa dehydrogenase, very long-chain deficiency, acyl-coa dehydrogenase, very long-chain, deficiency of, disease or syndrome, very long chain acyl coa dehydrogenase deficiency (lcad), very long chain acyl-coa dehydrogenase deficiency, very long chain acyl-coenzyme a dehydrogenase deficiency, very long-chain acyl coenzyme a dehydrogenase deficiency, very long-chain acyl-coa dehydrogenase deficiency, very long-chain acyl-coenzyme a dehydrogenase deficiency, vlcad, vlcad - very long chain acyl-coa dehydrogenase deficiency, vlcad deficiency, vlcad-c, vlcad-h, vlcadd, 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="Deficiency of very long-chain acyl-coenzyme A dehydrogenase (VLCAD), which catalyzes the initial step of mitochondrial beta-oxidation of long-chain fatty acids with a chain length of 14 to 20 carbons, is associated with three phenotypes. The severe early-onset cardiac and multiorgan failure form typically presents in the first months of life with hypertrophic or dilated cardiomyopathy, pericardial effusion, and arrhythmias, as well as hypotonia, hepatomegaly, and intermittent hypoglycemia. The hepatic or hypoketotic hypoglycemic form typically presents during early childhood with hypoketotic hypoglycemia and hepatomegaly, but without cardiomyopathy. The later-onset episodic myopathic form presents with intermittent rhabdomyolysis provoked by exercise, muscle cramps and/or pain, and/or exercise intolerance. Hypoglycemia typically is not present at the time of symptoms." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=854382
|
||
ConceptID=C3887523
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Very long chain acyl-CoA dehydrogenase deficiency<span class="h1sub">(ACADVLD)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>854382</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.">C3887523</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>ACADVLD; VLCAD Deficiency</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Very long chain acyl-coenzyme A dehydrogenase deficiency (237997005); Very long chain acyl-CoA dehydrogenase deficiency (237997005); VLCAD - Very long chain acyl-CoA dehydrogenase deficiency (237997005)</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="ACADVL - ID: 37 - NCBI Gene" href="/gene/37" class="medgenPMinfo">ACADVL</a> (17p13.1)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0008723" target="_blank">MONDO:0008723</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/201475" target="_blank">201475</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=26793">ORPHA26793</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/NBK6816" target="_blank">Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency</a></div><div>Deficiency of very long-chain acyl-coenzyme A dehydrogenase (VLCAD), which catalyzes the initial step of mitochondrial beta-oxidation of long-chain fatty acids with a chain length of 14 to 20 carbons, is associated with three phenotypes. The severe early-onset cardiac and multiorgan failure form typically presents in the first months of life with hypertrophic or dilated cardiomyopathy, pericardial effusion, and arrhythmias, as well as hypotonia, hepatomegaly, and intermittent hypoglycemia. The hepatic or hypoketotic hypoglycemic form typically presents during early childhood with hypoketotic hypoglycemia and hepatomegaly, but without cardiomyopathy. The later-onset episodic myopathic form presents with intermittent rhabdomyolysis provoked by exercise, muscle cramps and/or pain, and/or exercise intolerance. Hypoglycemia typically is not present at the time of symptoms. [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/NBK6816#vlcad.Summary" target="NBK6816">Summary</a> | <a class="medgenPMinfo" href="/books/NBK6816#vlcad.GeneReview_Scope" target="NBK6816">GeneReview Scope</a> | <a class="medgenPMinfo" href="/books/NBK6816#vlcad.Diagnosis" target="NBK6816">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK6816#vlcad.Clinical_Characteristics" target="NBK6816">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK6816#vlcad.Genetically_Related_Allelic_Disord" target="NBK6816">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK6816#vlcad.Differential_Diagnosis" target="NBK6816">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK6816#vlcad.Management" target="NBK6816">Management</a> | <a class="medgenPMinfo" href="/books/NBK6816#vlcad.Genetic_Counseling" target="NBK6816">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK6816#vlcad.Resources" target="NBK6816">Resources</a> | <a class="medgenPMinfo" href="/books/NBK6816#vlcad.Molecular_Genetics" target="NBK6816">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK6816#vlcad.Chapter_Notes" target="NBK6816">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK6816#vlcad.References" target="NBK6816">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Nancy D Leslie | Sofia Saenz-Ayala <a href="/books/NBK6816" target="NBK6816" title="NCBI Bookshelf: Very Long-Chain Acyl-Coenzyme A Dehydrogenase 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 />Inborn errors of mitochondrial fatty acid beta-oxidation include medium-chain acyl-CoA dehydrogenase deficiency (ACADMD; 201450), short-chain acyl-CoA dehydrogenase deficiency (ACADSD; 201470), and very long-chain acyl-CoA dehydrogenase deficiency.
|
||
VLCAD deficiency can be classified clinically into 3 forms: a severe early-onset form with high incidence of cardiomyopathy and high mortality; an intermediate form with childhood onset, usually with hypoketotic hypoglycemia and more favorable outcome; and an adult-onset, myopathic form with isolated skeletal muscle involvement, rhabdomyolysis, and myoglobinuria after exercise or fasting (Andresen et al., 1999).
|
||
Patients reported with long-chain acyl-CoA dehydrogenase (LCAD) deficiency before VLCAD deficiency was defined were later found to have VLCAD deficiency (Strauss et al., 1995; Roe and Ding, 2001). <a target="_blank" href="http://www.omim.org/entry/201475">http://www.omim.org/entry/201475</a></div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a condition that prevents the body from converting certain fats into energy, particularly during periods without food (fasting).<br /><br />There are three forms of VLCAD deficiency, and they are defined by when the signs and symptoms of the condition begin. The early-onset form is the most severe and begins in infancy. Signs and symptoms can include lack of energy (lethargy) and muscle weakness. People with VCLAD deficiency can have low blood sugar (glucose), known as hypoglycemia. Affected individuals are also at risk for serious complications such, as liver abnormalities and life-threatening heart problems. <br /><br />Individuals with childhood-onset VLCAD deficiency typically experience an enlarged liver (hepatomegaly) and low blood glucose. This form is sometimes referred to as the hepatic or hypoketotic hypoglycemic form because of these signs. Additional signs and symptoms include other liver problems or muscle weakness.<br /><br />The adult-onset form, which begins in adolescence or adulthood, usually involves muscle pain and the breakdown of muscle tissue (rhabdomyolysis). The destruction of muscle tissue releases a large amount of a protein called myoglobin, which is processed by the kidneys and released in the urine (myoglobinuria). Myoglobinuria causes the urine to be red or brown.<br /><br />In both children and adults, problems related to VLCAD deficiency can be triggered by periods of fasting, illness, exercise, and exposure to hot or cold temperatures. In children, 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 occur in children who take aspirin during these viral infections. <a target="_blank" href="https://medlineplus.gov/genetics/condition/very-long-chain-acyl-coa-dehydrogenase-deficiency">https://medlineplus.gov/genetics/condition/very-long-chain-acyl-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_38841"><div><strong>Sudden cardiac death</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>38841</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.">C0085298</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The heart suddenly and unexpectedly stops beating resulting in death within a short time period (generally within 1 h of symptom onset).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/38841">Feature record</a> | <a href="/medgen?term=%22Sudden%20cardiac%20death%22%5BClinical%20Features%5D%20OR%2038841%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_340638"><div><strong>Exercise-induced myalgia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340638</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.">C1850830</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The occurrence of an unusually high amount of muscle pain following exercise.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/340638">Feature record</a> | <a href="/medgen?term=%22Exercise-induced%20myalgia%22%5BClinical%20Features%5D%20OR%20340638%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_337172"><div><strong>Exercise-induced myoglobinuria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>337172</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.">C1845155</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Presence of myoglobin in the urine following exercise.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/337172">Feature record</a> | <a href="/medgen?term=%22Exercise-induced%20myoglobinuria%22%5BClinical%20Features%5D%20OR%20337172%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_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_5459"><div><strong>Cardiomegaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5459</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.">C0018800</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased size of the heart, clinically defined as an increased transverse diameter of the cardiac silhouette that is greater than or equal to 50% of the transverse diameter of the chest (increased cardiothoracic ratio) on a posterior-anterior projection of a chest radiograph or a computed tomography.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/5459">Feature record</a> | <a href="/medgen?term=%22Cardiomegaly%22%5BClinical%20Features%5D%20OR%205459%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_868398"><div><strong>Reduced left ventricular ejection fraction</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>868398</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.">C4022792</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A diminution of the volumetric fraction of blood pumped out of the ventricle with each cardiac cycle.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/868398">Feature record</a> | <a href="/medgen?term=%22Reduced%20left%20ventricular%20ejection%20fraction%22%5BClinical%20Features%5D%20OR%20868398%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_105440"><div><strong>Necrotizing enterocolitis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>105440</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.">C0520459</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Inflammation of the intestine leading to bacterial invasion causing cellular damage and death which causes necrosis of the colon and intestine.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/105440">Feature record</a> | <a href="/medgen?term=%22Necrotizing%20enterocolitis%22%5BClinical%20Features%5D%20OR%20105440%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_333228"><div><strong>Episodic vomiting</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>333228</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.">C1838993</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Paroxysmal, recurrent episodes of vomiting.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/333228">Feature record</a> | <a href="/medgen?term=%22Episodic%20vomiting%22%5BClinical%20Features%5D%20OR%20333228%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_337906"><div><strong>Periportal fibrosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>337906</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.">C1849766</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of fibrosis affecting the interlobular stroma of liver.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/337906">Feature record</a> | <a href="/medgen?term=%22Periportal%20fibrosis%22%5BClinical%20Features%5D%20OR%20337906%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_343247"><div><strong>Hepatocellular necrosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343247</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.">C1855038</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/343247">Feature record</a> | <a href="/medgen?term=%22Hepatocellular%20necrosis%22%5BClinical%20Features%5D%20OR%20343247%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_1368658"><div><strong>Gastroesophageal reflux</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1368658</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.">C4317146</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1368658">Feature record</a> | <a href="/medgen?term=%22Gastroesophageal%20reflux%22%5BClinical%20Features%5D%20OR%201368658%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_7310"><div><strong>Lethargy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7310</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.">C0023380</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A state of fatigue, either physical or mental slowness and sluggishness, with difficulties in initiating or performing simple tasks. Distinguished from apathy which implies indifference and a lack of desire or interest in the task. A person with lethargy may have the desire, but not the energy to engage in personal or socially relevant tasks.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/7310">Feature record</a> | <a href="/medgen?term=%22Lethargy%22%5BClinical%20Features%5D%20OR%207310%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_141670"><div><strong>Bilateral tonic-clonic seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141670</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.">C0494475</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/141670">Feature record</a> | <a href="/medgen?term=%22Bilateral%20tonic-clonic%20seizure%22%5BClinical%20Features%5D%20OR%20141670%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_57735"><div><strong>Muscle weakness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57735</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.">C0151786</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduced strength of muscles.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57735">Feature record</a> | <a href="/medgen?term=%22Muscle%20weakness%22%5BClinical%20Features%5D%20OR%2057735%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_113151"><div><strong>Muscle stiffness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>113151</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.">C0221170</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A condition in which muscles cannot be moved quickly without accompanying pain or spasm.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/113151">Feature record</a> | <a href="/medgen?term=%22Muscle%20stiffness%22%5BClinical%20Features%5D%20OR%20113151%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_867168"><div><strong>Exercise-induced rhabdomyolysis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>867168</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.">C4021526</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Rhabdomyolysis induced by exercise.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/867168">Feature record</a> | <a href="/medgen?term=%22Exercise-induced%20rhabdomyolysis%22%5BClinical%20Features%5D%20OR%20867168%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1644158"><div><strong>Microcephaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1644158</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.">C4551563</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Head circumference below 2 standard deviations below the mean for age and gender.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1644158">Feature record</a> | <a href="/medgen?term=%22Microcephaly%22%5BClinical%20Features%5D%20OR%201644158%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57878"><div><strong>Respiratory arrest</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57878</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.">C0162297</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cessation of breathing function.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57878">Feature record</a> | <a href="/medgen?term=%22Respiratory%20arrest%22%5BClinical%20Features%5D%20OR%2057878%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66669"><div><strong>Tachypnea</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66669</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.">C0231835</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Very rapid breathing.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66669">Feature record</a> | <a href="/medgen?term=%22Tachypnea%22%5BClinical%20Features%5D%20OR%2066669%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_69128"><div><strong>Elevated circulating creatine kinase concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>69128</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.">C0241005</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood. CK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/69128">Feature record</a> | <a href="/medgen?term=%22Elevated%20circulating%20creatine%20kinase%20concentration%22%5BClinical%20Features%5D%20OR%2069128%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_400730"><div><strong>Nonketotic hypoglycemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>400730</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.">C1865292</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/400730">Feature record</a> | <a href="/medgen?term=%22Nonketotic%20hypoglycemia%22%5BClinical%20Features%5D%20OR%20400730%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1802066"><div><strong>Hyperammonemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1802066</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.">C5574662</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Laboratory or Test Result</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increased concentration of ammonia in the blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen?term=%22Hyperammonemia%22%5BClinical%20Features%5D%20OR%201802066%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1850526"><div><strong>Decreased circulating carnitine concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1850526</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.">C5848230</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Concentration of carnitine in the blood circulation below the lower limit of normal.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1850526">Feature record</a> | <a href="/medgen?term=%22Decreased%20circulating%20carnitine%20concentration%22%5BClinical%20Features%5D%20OR%201850526%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1864229"><div><strong>Diminished tissue very long-chain acyl-CoA dehydrogenase activity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1864229</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.">C5937574</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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||
<div class="spaceAbove">Diminished activity of Very long-chain acyl-CoA dehydrogenase (VLCAD), an enzyme that catalyzes the initial step of mitochondrial beta-oxidation of long-chain fatty acids with a chain length of 14 to 20 carbons. VLCAD activity can be measured with biochemical testing using cultured fibroblasts or lymphocytes.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/1864229">Feature record</a> | <a href="/medgen?term=%22Diminished%20tissue%20very%20long-chain%20acyl-CoA%20dehydrogenase%20activity%22%5BClinical%20Features%5D%20OR%201864229%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">
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||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1850526" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased circulating carnitine concentration</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1864229" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Diminished tissue very long-chain acyl-CoA dehydrogenase activity</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_69128" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Elevated circulating creatine kinase concentration</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1802066" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperammonemia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_400730" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nonketotic 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_5459" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cardiomegaly</a></span></li><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_868398" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Reduced left ventricular ejection fraction</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_333228" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Episodic vomiting</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1368658" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gastroesophageal reflux</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><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_343247" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hepatocellular necrosis</a></span></li><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><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_105440" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Necrotizing enterocolitis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_337906" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Periportal fibrosis</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_337172" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Exercise-induced 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_867168" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Exercise-induced rhabdomyolysis</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><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1644158" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microcephaly</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_113151" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscle stiffness</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57735" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscle weakness</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_141670" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bilateral tonic-clonic seizure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_7310" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lethargy</a></span></li></ul></li><li><span class="TLline">Abnormality of the respiratory system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57878" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Respiratory arrest</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66669" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tachypnea</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_340638" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Exercise-induced myalgia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_38841" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sudden cardiac death</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
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||
<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="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0268634[DISCUI]&test_type=Clinical" ref="ncbi_uid=468968">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/468968" ref="tree=GTR&ncbi_uid=468968&link_uid=468968" title="View MedGen record for 'Disorder of fatty acid metabolism'">Disorder of fatty acid metabolism</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0342791[DISCUI]&test_type=Clinical" ref="ncbi_uid=91000">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=91000" target="_blank" href="/omim/212138">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK582032/" ref="ncbi_uid=91000">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=91000" ref="ncbi_uid=91000">V</a></span></span><span class="TLline"><a href="/medgen/91000" ref="tree=GTR&ncbi_uid=91000&link_uid=91000" title="View MedGen record for 'Carnitine acylcarnitine translocase deficiency'">Carnitine acylcarnitine translocase deficiency</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1829703[DISCUI]&test_type=Clinical" ref="ncbi_uid=316820">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=316820" target="_blank" href="/omim/255120">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1527/" ref="ncbi_uid=316820">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=316820" ref="ncbi_uid=316820">V</a></span></span><span class="TLline"><a href="/medgen/316820" ref="tree=GTR&ncbi_uid=316820&link_uid=316820" title="View MedGen record for 'Carnitine palmitoyl transferase 1A deficiency'">Carnitine palmitoyl transferase 1A deficiency</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1833511[DISCUI]&test_type=Clinical" ref="ncbi_uid=322211">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=322211" target="_blank" href="/omim/600649">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1253/" ref="ncbi_uid=322211">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=322211" ref="ncbi_uid=322211">V</a></span></span><span class="TLline"><a href="/medgen/322211" ref="tree=GTR&ncbi_uid=322211&link_uid=322211" title="View MedGen record for 'Carnitine palmitoyl transferase II deficiency, severe infantile form'">Carnitine palmitoyl transferase II deficiency, severe infantile form</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0220710[DISCUI]&test_type=Clinical" ref="ncbi_uid=65086">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=65086" target="_blank" href="/omim/201450">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1424/" ref="ncbi_uid=65086">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=65086" ref="ncbi_uid=65086">V</a></span></span><span class="TLline"><a href="/medgen/65086" ref="tree=GTR&ncbi_uid=65086&link_uid=65086" title="View MedGen record for 'Medium-chain acyl-coenzyme A dehydrogenase deficiency'">Medium-chain acyl-coenzyme A dehydrogenase deficiency</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1969443[DISCUI]&test_type=Clinical" ref="ncbi_uid=370665">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=370665" target="_blank" href="/omim/600890">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK583531/" ref="ncbi_uid=370665">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=370665" ref="ncbi_uid=370665">V</a></span></span><span class="TLline"><a href="/medgen/370665" ref="tree=GTR&ncbi_uid=370665&link_uid=370665" title="View MedGen record for 'Mitochondrial trifunctional protein deficiency'">Mitochondrial trifunctional protein deficiency</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=CN376812[DISCUI]&test_type=Clinical" ref="ncbi_uid=1053401">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK583531/" ref="ncbi_uid=1053401">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1053401" ref="ncbi_uid=1053401">V</a></span></span><span class="TLline"><a href="/medgen/1053401" ref="tree=GTR&ncbi_uid=1053401&link_uid=1053401" title="View MedGen record for 'Mitochondrial trifunctional protein deficiency 1'">Mitochondrial trifunctional protein deficiency 1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5830374[DISCUI]&test_type=Clinical" ref="ncbi_uid=1841010">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1841010" target="_blank" href="/omim/143450">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK583531/" ref="ncbi_uid=1841010">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1841010" ref="ncbi_uid=1841010">V</a></span></span><span class="TLline"><a href="/medgen/1841010" ref="tree=GTR&ncbi_uid=1841010&link_uid=1841010" title="View MedGen record for 'Mitochondrial trifunctional protein deficiency 2'">Mitochondrial trifunctional protein deficiency 2</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0268596[DISCUI]&test_type=Clinical" ref="ncbi_uid=75696">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=75696" target="_blank" href="/omim/231680">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK558236/" ref="ncbi_uid=75696">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=75696" ref="ncbi_uid=75696">V</a></span></span><span class="TLline"><a href="/medgen/75696" ref="tree=GTR&ncbi_uid=75696&link_uid=75696" title="View MedGen record for 'Multiple acyl-CoA dehydrogenase deficiency'">Multiple acyl-CoA dehydrogenase deficiency</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0342788[DISCUI]&test_type=Clinical" ref="ncbi_uid=90999">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C0342788[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=90999">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=90999" target="_blank" href="/omim/212140">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK84551/" ref="ncbi_uid=90999">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=90999" ref="ncbi_uid=90999">V</a></span></span><span class="TLline"><a href="/medgen/90999" ref="tree=GTR&ncbi_uid=90999&link_uid=90999" title="View MedGen record for 'Renal carnitine transport defect'">Renal carnitine transport defect</a></span></li><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3887523[DISCUI]&test_type=Clinical" ref="ncbi_uid=854382">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=854382" target="_blank" href="/omim/201475">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK6816/" ref="ncbi_uid=854382">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=854382" ref="ncbi_uid=854382">V</a></span></span><span class="TLline">Very long chain acyl-CoA dehydrogenase deficiency</span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/541378" ref="tree=MeSH" title="MedGen record for Acyl-CoA dehydrogenase deficiency">Acyl-CoA dehydrogenase deficiency</a></span><ul><li><span class="matched_ds">Very long chain acyl-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/33093005">Nutrition management guideline for very-long chain acyl-CoA dehydrogenase deficiency (VLCAD): An evidence- and consensus-based approach.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Van Calcar SC,
|
||
Sowa M,
|
||
Rohr F,
|
||
Beazer J,
|
||
Setlock T,
|
||
Weihe TU,
|
||
Pendyal S,
|
||
Wallace LS,
|
||
Hansen JG,
|
||
Stembridge A,
|
||
Splett P,
|
||
Singh RH</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2020 Sep-Oct;131(1-2):23-37.
|
||
Epub 2020 Oct 6
|
||
doi: 10.1016/j.ymgme.2020.10.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33093005" target="_blank">33093005</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21074171">A near-miss: very long chain acyl-CoA dehydrogenase deficiency with normal primary markers in the initial well-timed newborn screening specimen.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sahai I,
|
||
Bailey JC,
|
||
Eaton RB,
|
||
Zytkovicz T,
|
||
Harris DJ</span><br />
|
||
<span class="medgenPMjournal">J Pediatr</span>
|
||
2011 Jan;158(1):172; author reply 172-3.
|
||
Epub 2010 Nov 12
|
||
doi: 10.1016/j.jpeds.2010.09.026.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21074171" target="_blank">21074171</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9973285">Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Andresen BS,
|
||
Olpin S,
|
||
Poorthuis BJ,
|
||
Scholte HR,
|
||
Vianey-Saban C,
|
||
Wanders R,
|
||
Ijlst L,
|
||
Morris A,
|
||
Pourfarzam M,
|
||
Bartlett K,
|
||
Baumgartner ER,
|
||
deKlerk JB,
|
||
Schroeder LD,
|
||
Corydon TJ,
|
||
Lund H,
|
||
Winter V,
|
||
Bross P,
|
||
Bolund L,
|
||
Gregersen N</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
1999 Feb;64(2):479-94.
|
||
doi: 10.1086/302261.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9973285" target="_blank">9973285</a><a href="/pmc/articles/PMC1377757" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22very%20long%20chain%20acyl-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 (38)</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://managementguidelines.net/guidelines.php/146/VLCAD%20Nutrition%20Guidelines/Version%201.4" target="_blank">GMDI (SERN), VLCAD Nutrition Management Guidelines, v. 1.4, 2022</a></h3>
|
||
<h3 class="nl vspace"><a href="https://www.acmg.net/PDFLibrary/C14.pdf" target="_blank">American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Elevated C14:1 +/- other long-chain acylcarnitines, Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency, 2022</a></h3>
|
||
<h3 class="nl vspace"><a href="https://managementguidelines.net/guidelines.php/130/VLCAD%20Nutrition%20Guidelines/Version%201.1" target="_blank">VLCAD Nutrition Management Guidelines</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/36893960">Very long-chain acyl-CoA dehydrogenase deficiency and type I diabetes mellitus: Case report and management challenges.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Al-Busaidi SA,
|
||
Al Nou'mani JA,
|
||
Al-Falahi Z,
|
||
Al-Farsi R,
|
||
Kumar S,
|
||
Al-Murshedi F,
|
||
Awlad-Thani K,
|
||
Al Nabhani A,
|
||
Al Alawi AM</span><br />
|
||
<span class="medgenPMjournal">Clin Biochem</span>
|
||
2023 Jun;116:16-19.
|
||
Epub 2023 Mar 7
|
||
doi: 10.1016/j.clinbiochem.2023.03.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36893960" target="_blank">36893960</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35400565">The frequencies of very long-chain acyl-CoA dehydrogenase deficiency genetic variants in Japan have changed since the implementation of expanded newborn screening.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Osawa Y,
|
||
Kobayashi H,
|
||
Tajima G,
|
||
Hara K,
|
||
Yamada K,
|
||
Fukuda S,
|
||
Hasegawa Y,
|
||
Aisaki J,
|
||
Yuasa M,
|
||
Hata I,
|
||
Okada S,
|
||
Shigematsu Y,
|
||
Sasai H,
|
||
Fukao T,
|
||
Takizawa T,
|
||
Yamaguchi S,
|
||
Taketani T</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2022 May;136(1):74-79.
|
||
Epub 2022 Mar 25
|
||
doi: 10.1016/j.ymgme.2022.03.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35400565" target="_blank">35400565</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35136200">Severity estimation of very-long-chain acyl-CoA dehydrogenase deficiency via (13)C-fatty acid loading test.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sugihara K,
|
||
Yuasa M,
|
||
Isozaki Y,
|
||
Hata I,
|
||
Ohshima Y,
|
||
Hamazaki T,
|
||
Kakiuchi T,
|
||
Arao M,
|
||
Igarashi N,
|
||
Kotani Y,
|
||
Fukuda T,
|
||
Kagawa R,
|
||
Tajima G,
|
||
Shigematsu Y</span><br />
|
||
<span class="medgenPMjournal">Pediatr Res</span>
|
||
2022 Nov;92(5):1391-1399.
|
||
Epub 2022 Feb 8
|
||
doi: 10.1038/s41390-022-01979-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35136200" target="_blank">35136200</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33093005">Nutrition management guideline for very-long chain acyl-CoA dehydrogenase deficiency (VLCAD): An evidence- and consensus-based approach.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Van Calcar SC,
|
||
Sowa M,
|
||
Rohr F,
|
||
Beazer J,
|
||
Setlock T,
|
||
Weihe TU,
|
||
Pendyal S,
|
||
Wallace LS,
|
||
Hansen JG,
|
||
Stembridge A,
|
||
Splett P,
|
||
Singh RH</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2020 Sep-Oct;131(1-2):23-37.
|
||
Epub 2020 Oct 6
|
||
doi: 10.1016/j.ymgme.2020.10.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33093005" target="_blank">33093005</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><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Very%20long%20chain%20acyl-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 (45)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36161784">Expert consensus on diagnosis and treatment of very long-chain acyl-CoA dehydrogenase deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Division of Biochemistry and Metabolism, Medical Genetics Branch, Chinese Medical Association,
|
||
Division of Genetics and Metabolism, Child Diseases and Health Care Branch, Chinese Association for Maternal and Child Health</span><br />
|
||
<span class="medgenPMjournal">Zhejiang Da Xue Xue Bao Yi Xue Ban</span>
|
||
2022 Feb 25;51(1):122-128.
|
||
doi: 10.3724/zdxbyxb-2022-0107.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36161784" target="_blank">36161784</a><a href="/pmc/articles/PMC9109756" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35136200">Severity estimation of very-long-chain acyl-CoA dehydrogenase deficiency via (13)C-fatty acid loading test.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sugihara K,
|
||
Yuasa M,
|
||
Isozaki Y,
|
||
Hata I,
|
||
Ohshima Y,
|
||
Hamazaki T,
|
||
Kakiuchi T,
|
||
Arao M,
|
||
Igarashi N,
|
||
Kotani Y,
|
||
Fukuda T,
|
||
Kagawa R,
|
||
Tajima G,
|
||
Shigematsu Y</span><br />
|
||
<span class="medgenPMjournal">Pediatr Res</span>
|
||
2022 Nov;92(5):1391-1399.
|
||
Epub 2022 Feb 8
|
||
doi: 10.1038/s41390-022-01979-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35136200" target="_blank">35136200</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34184355">Very long-chain acyl-CoA dehydrogenase deficiency: No developmental delay after cardiopulmonary arrest.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Takizaki N,
|
||
Hanakawa J,
|
||
Iwano R,
|
||
Hirano Y,
|
||
Muroya K</span><br />
|
||
<span class="medgenPMjournal">Pediatr Int</span>
|
||
2021 Aug;63(8):992-994.
|
||
Epub 2021 Jun 29
|
||
doi: 10.1111/ped.14666.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34184355" target="_blank">34184355</a><a href="/pmc/articles/PMC8457193" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32558070">Adult-onset very-long-chain acyl-CoA dehydrogenase deficiency (VLCADD).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fatehi F,
|
||
Okhovat AA,
|
||
Nilipour Y,
|
||
Mroczek M,
|
||
Straub V,
|
||
Töpf A,
|
||
Palibrk A,
|
||
Peric S,
|
||
Rakocevic Stojanovic V,
|
||
Najmabadi H,
|
||
Nafissi S</span><br />
|
||
<span class="medgenPMjournal">Eur J Neurol</span>
|
||
2020 Nov;27(11):2257-2266.
|
||
Epub 2020 Jul 24
|
||
doi: 10.1111/ene.14402.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32558070" target="_blank">32558070</a><a href="/pmc/articles/PMC8006598" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26385305">Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Miller MJ,
|
||
Burrage LC,
|
||
Gibson JB,
|
||
Strenk ME,
|
||
Lose EJ,
|
||
Bick DP,
|
||
Elsea SH,
|
||
Sutton VR,
|
||
Sun Q,
|
||
Graham BH,
|
||
Craigen WJ,
|
||
Zhang VW,
|
||
Wong LJ</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2015 Nov;116(3):139-45.
|
||
Epub 2015 Sep 2
|
||
doi: 10.1016/j.ymgme.2015.08.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26385305" target="_blank">26385305</a><a href="/pmc/articles/PMC4790081" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Very%20long%20chain%20acyl-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 (92)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36893960">Very long-chain acyl-CoA dehydrogenase deficiency and type I diabetes mellitus: Case report and management challenges.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Al-Busaidi SA,
|
||
Al Nou'mani JA,
|
||
Al-Falahi Z,
|
||
Al-Farsi R,
|
||
Kumar S,
|
||
Al-Murshedi F,
|
||
Awlad-Thani K,
|
||
Al Nabhani A,
|
||
Al Alawi AM</span><br />
|
||
<span class="medgenPMjournal">Clin Biochem</span>
|
||
2023 Jun;116:16-19.
|
||
Epub 2023 Mar 7
|
||
doi: 10.1016/j.clinbiochem.2023.03.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36893960" target="_blank">36893960</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32518924">Molecular and clinical characteristics of very-long-chain acyl-CoA dehydrogenase deficiency: A single-center experience in Saudi Arabia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alhashem A,
|
||
Mohamed S,
|
||
Abdelraheem M,
|
||
AlGufaydi B,
|
||
Al-Aqeel A</span><br />
|
||
<span class="medgenPMjournal">Saudi Med J</span>
|
||
2020 Jun;41(6):590-596.
|
||
doi: 10.15537/smj.2020.6.25131.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32518924" target="_blank">32518924</a><a href="/pmc/articles/PMC7502945" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31955429">Nutritional ketosis improves exercise metabolism in patients with very long-chain acyl-CoA dehydrogenase deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bleeker JC,
|
||
Visser G,
|
||
Clarke K,
|
||
Ferdinandusse S,
|
||
de Haan FH,
|
||
Houtkooper RH,
|
||
IJlst L,
|
||
Kok IL,
|
||
Langeveld M,
|
||
van der Pol WL,
|
||
de Sain-van der Velden MGM,
|
||
Sibeijn-Kuiper A,
|
||
Takken T,
|
||
Wanders RJA,
|
||
van Weeghel M,
|
||
Wijburg FA,
|
||
van der Woude LH,
|
||
Wüst RCI,
|
||
Cox PJ,
|
||
Jeneson JAL</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2020 Jul;43(4):787-799.
|
||
Epub 2020 Feb 5
|
||
doi: 10.1002/jimd.12217.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31955429" target="_blank">31955429</a><a href="/pmc/articles/PMC7384182" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30401918">Management and diagnosis of mitochondrial fatty acid oxidation disorders: focus on very-long-chain acyl-CoA dehydrogenase deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yamada K,
|
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Taketani T</span><br />
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<span class="medgenPMjournal">J Hum Genet</span>
|
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2019 Feb;64(2):73-85.
|
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Epub 2018 Nov 6
|
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doi: 10.1038/s10038-018-0527-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30401918" target="_blank">30401918</a></div>
|
||
|
||
<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,
|
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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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<span class="bold">PMID: </span><a href="/pubmed/27931031" target="_blank">27931031</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Very%20long%20chain%20acyl-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 (23)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36161784">Expert consensus on diagnosis and treatment of very long-chain acyl-CoA dehydrogenase deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Division of Biochemistry and Metabolism, Medical Genetics Branch, Chinese Medical Association,
|
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Division of Genetics and Metabolism, Child Diseases and Health Care Branch, Chinese Association for Maternal and Child Health</span><br />
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<span class="medgenPMjournal">Zhejiang Da Xue Xue Bao Yi Xue Ban</span>
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2022 Feb 25;51(1):122-128.
|
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doi: 10.3724/zdxbyxb-2022-0107.
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<span class="bold">PMID: </span><a href="/pubmed/36161784" target="_blank">36161784</a><a href="/pmc/articles/PMC9109756" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/35136200">Severity estimation of very-long-chain acyl-CoA dehydrogenase deficiency via (13)C-fatty acid loading test.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Sugihara K,
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Yuasa M,
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Isozaki Y,
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Hata I,
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Igarashi N,
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Kotani Y,
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Kagawa R,
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Tajima G,
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2022 Nov;92(5):1391-1399.
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Epub 2022 Feb 8
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doi: 10.1038/s41390-022-01979-z.
|
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<span class="bold">PMID: </span><a href="/pubmed/35136200" target="_blank">35136200</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30401918">Management and diagnosis of mitochondrial fatty acid oxidation disorders: focus on very-long-chain acyl-CoA dehydrogenase deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yamada K,
|
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Taketani T</span><br />
|
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<span class="medgenPMjournal">J Hum Genet</span>
|
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2019 Feb;64(2):73-85.
|
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Epub 2018 Nov 6
|
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doi: 10.1038/s10038-018-0527-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30401918" target="_blank">30401918</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/28247148">Very long-chain acyl-CoA dehydrogenase (VLCAD-) deficiency-studies on treatment effects and long-term outcomes in mouse models.</a></div>
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<span class="bold">PMID: </span><a href="/pubmed/28247148" target="_blank">28247148</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/8739958">Mitochondrial very long-chain acyl-CoA dehydrogenase deficiency with a mild clinical course.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Merinero B,
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Pérez-Cerdá C,
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Garcia MJ,
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Gangoiti J,
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Font LM,
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Garcia Silva MT,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Very%20long%20chain%20acyl-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 (42)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<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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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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<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/35136200">Severity estimation of very-long-chain acyl-CoA dehydrogenase deficiency via (13)C-fatty acid loading test.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Sugihara K,
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Yuasa M,
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Isozaki Y,
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Hata I,
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Ohshima Y,
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Hamazaki T,
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Kakiuchi T,
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Arao M,
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Igarashi N,
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Kotani Y,
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Fukuda T,
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Kagawa R,
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Tajima G,
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Shigematsu Y</span><br />
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<span class="medgenPMjournal">Pediatr Res</span>
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2022 Nov;92(5):1391-1399.
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Epub 2022 Feb 8
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doi: 10.1038/s41390-022-01979-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35136200" target="_blank">35136200</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31031081">Clinical and biochemical outcome of patients with very long-chain acyl-CoA dehydrogenase deficiency.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Rovelli V,
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Manzoni F,
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Viau K,
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Pasquali M,
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Longo N</span><br />
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Epub 2019 Apr 16
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doi: 10.1016/j.ymgme.2019.04.001.
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<span class="bold">PMID: </span><a href="/pubmed/31031081" target="_blank">31031081</a></div>
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||
<div class="nl"><a target="_blank" href="/pubmed/30401918">Management and diagnosis of mitochondrial fatty acid oxidation disorders: focus on very-long-chain acyl-CoA dehydrogenase deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yamada K,
|
||
Taketani T</span><br />
|
||
<span class="medgenPMjournal">J Hum Genet</span>
|
||
2019 Feb;64(2):73-85.
|
||
Epub 2018 Nov 6
|
||
doi: 10.1038/s10038-018-0527-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30401918" target="_blank">30401918</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9973285">Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Andresen BS,
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Olpin S,
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Poorthuis BJ,
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Scholte HR,
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Vianey-Saban C,
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Wanders R,
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Ijlst L,
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Morris A,
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Pourfarzam M,
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Bartlett K,
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Baumgartner ER,
|
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deKlerk JB,
|
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Schroeder LD,
|
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Corydon TJ,
|
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Lund H,
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Winter V,
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Bross P,
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Bolund L,
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1999 Feb;64(2):479-94.
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<span class="bold">PMID: </span><a href="/pubmed/9973285" target="_blank">9973285</a><a href="/pmc/articles/PMC1377757" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Very%20long%20chain%20acyl-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 (39)</a></div></div>
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|
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|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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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=C3887523%5bDISCUI%5d&filter=method%3A1%5F1" target="_blank">Analyte (6)</a></li>
|
||
<li><a href="/gtr/tests?term=C3887523%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (81)</a></li>
|
||
<li><a href="/gtr/tests?term=C3887523%5bDISCUI%5d&filter=method%3A1%5F2" target="_blank">Enzyme assay (3)</a></li>
|
||
<li><a href="/gtr/tests?term=C3887523%5bDISCUI%5d&filter=method%3A2%5F12" target="_blank">Microsatellite instability testing (MSI) (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C3887523%5bDISCUI%5d&filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (5)</a></li>
|
||
<li><a href="/gtr/tests?term=C3887523%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (12)</a></li>
|
||
<li><a href="/gtr/tests?term=C3887523%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (108)</a></li>
|
||
<li><a href="/gtr/tests?term=C3887523%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (31)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C3887523%5bDISCUI%5d" target="_blank">See all (131)</a></total></li>
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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=201475" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=26793" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Very%20long%20chain%20acyl-CoA%20dehydrogenase%20deficiency" target="_blank">ClinicalTrials.gov</a></li></ul></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=(%22very%20long%20chain%20acyl-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://managementguidelines.net/guidelines.php/146/VLCAD%20Nutrition%20Guidelines/Version%201.4">GMDI, 2022</a><div>GMDI (SERN), VLCAD Nutrition Management Guidelines, v. 1.4, 2022</div></li><li><a target="_blank" href="https://www.acmg.net/PDFLibrary/C14.pdf">ACMG ACT, 2022</a><div>American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Elevated C14:1 +/- other long-chain acylcarnitines, Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency, 2022</div></li><li><a target="_blank" href="https://managementguidelines.net/guidelines.php/130/VLCAD%20Nutrition%20Guidelines/Version%201.1">GMDI/SERN, 2021</a><div>VLCAD Nutrition Management Guidelines</div></li></ul></div>
|
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|
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|
||
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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=609575" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=37[geneid]" target="_blank">View ACADVL variations in ClinVar</a></li><li><a href="/nuccore/189458877" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=201475" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
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<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/VLCAD+deficiency/7410" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/acyl_coa_dehydrogenase_very_long_chain_deficiency_of" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Very%20long%20chain%20acyl-CoA%20dehydrogenase%20deficiency" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/very-long-chain-acyl-coa-dehydrogenase-deficiency" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/5508/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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