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<meta name="keywords" content="C0268596, aciduria, ethylmalonic-adipic, acidurias, ethylmalonic-adipic, disease or syndrome, electron transfer flavoprotein deficiency, electron transfer flavoprotein ubiquinone oxidoreductase deficiency, ema, etfa, etfb, etfdh, ethylmalonic adipic aciduria, ethylmalonic adipicaciduria, ethylmalonic-adipic aciduria, ethylmalonic-adipic acidurias, ethylmalonic-adipicaciduria, ga 2, ga ii, ga2, glutaric acidemia 2, glutaric acidemia ii, glutaric acidemia type 2, glutaric acidemia type ii, glutaric acidemia, type 2, glutaric aciduria 2, glutaric aciduria ii, glutaric aciduria type 2, glutaric aciduria type ii, glutaric aciduria, type 2, mad - multiple acyl-coa dehydrogenase deficiency, mad deficiency, madd, madd (multiple acyl coa dehydrogenase deficiency), madd (multiple acyl-coa dehydrogenase deficiency), madd - multiple acyl-coa dehydrogenase deficiency, madds (multiple acyl-coa dehydrogenase deficiency), multiple acyl coa dehydrogenase deficiency, multiple acyl coenzyme a dehydrogenase deficiency, multiple acyl-coa dehydrogenase deficiency, multiple fad dehydrogenase deficiency, 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="Multiple acyl-CoA dehydrogenase deficiency (MADD) represents a clinical spectrum in which presentations can be divided into type I (neonatal onset with congenital anomalies), type II (neonatal onset without congenital anomalies), and type III (late onset). Individuals with type I or II MADD typically become symptomatic in the neonatal period with severe metabolic acidosis, which may be accompanied by profound hypoglycemia and hyperammonemia. Many affected individuals die in the newborn period despite metabolic treatment. In those who survive the neonatal period, recurrent metabolic decompensation resembling Reye syndrome and the development of hypertrophic cardiomyopathy can occur. Congenital anomalies may include dysmorphic facial features, large cystic kidneys, hypospadias and chordee in males, and neuronal migration defects (heterotopias) on brain MRI. Individuals with type III MADD, the most common presentation, can present from infancy to adulthood. The most common symptoms are muscle weakness, exercise intolerance, and/or muscle pain, although metabolic decompensation with episodes of rhabdomyolysis can also be seen. Rarely, individuals with late-onset MADD (type III) may develop severe sensory neuropathy in addition to proximal myopathy." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
UID=75696
ConceptID=C0268596
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Multiple acyl-CoA dehydrogenase deficiency<span class="h1sub">(MADD)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75696</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)&#10;Click for more information.">C0268596</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>ETHYLMALONIC-ADIPICACIDURIA; GA 2; GA II; Glutaric Acidemia type 2; Glutaric acidemia type II; Glutaric aciduria, type 2; MADD</td></tr>
<tr><td><span class="bold">SNOMED CT: </span></td>
<td>Glutaric aciduria, type 2 (22886006); Ethylmalonic-adipicaciduria (22886006); Glutaric acidemia, type 2 (22886006); MADD - multiple acyl-CoA dehydrogenase deficiency (22886006); Glutaric aciduria type II (22886006); MAD - Multiple acyl-CoA dehydrogenase deficiency (22886006)</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)&#10;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">Genes (locations):<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="ETFA - ID: 2108 - NCBI Gene" href="/gene/2108" class="medgenPMinfo">ETFA</a> (15q24.2-24.3); <a target="_blank" title="ETFB - ID: 2109 - NCBI Gene" href="/gene/2109" class="medgenPMinfo">ETFB</a> (19q13.41); <a target="_blank" title="ETFDH - ID: 2110 - NCBI Gene" href="/gene/2110" class="medgenPMinfo">ETFDH</a> (4q32.1)</td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
<td><a href="https://monarchinitiative.org/disease/MONDO:0009282" target="_blank">MONDO:0009282</a></td></tr>
<tr><td>OMIM<span class="superscript">®</span>:</td>
<td><a href="https://omim.org/entry/231680" target="_blank">231680</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&amp;Expert=26791">ORPHA26791</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/NBK558236" target="_blank">Multiple Acyl-CoA Dehydrogenase Deficiency</a></div><div>Multiple acyl-CoA dehydrogenase deficiency (MADD) represents a clinical spectrum in which presentations can be divided into type I (neonatal onset with congenital anomalies), type II (neonatal onset without congenital anomalies), and type III (late onset). Individuals with type I or II MADD typically become symptomatic in the neonatal period with severe metabolic acidosis, which may be accompanied by profound hypoglycemia and hyperammonemia. Many affected individuals die in the newborn period despite metabolic treatment. In those who survive the neonatal period, recurrent metabolic decompensation resembling Reye syndrome and the development of hypertrophic cardiomyopathy can occur. Congenital anomalies may include dysmorphic facial features, large cystic kidneys, hypospadias and chordee in males, and neuronal migration defects (heterotopias) on brain MRI. Individuals with type III MADD, the most common presentation, can present from infancy to adulthood. The most common symptoms are muscle weakness, exercise intolerance, and/or muscle pain, although metabolic decompensation with episodes of rhabdomyolysis can also be seen. Rarely, individuals with late-onset MADD (type III) may develop severe sensory neuropathy in addition to proximal myopathy. [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/NBK558236#madd.Summary" target="NBK558236">Summary</a>  |  <a class="medgenPMinfo" href="/books/NBK558236#madd.Diagnosis" target="NBK558236">Diagnosis</a>  |  <a class="medgenPMinfo" href="/books/NBK558236#madd.Clinical_Characteristics" target="NBK558236">Clinical Characteristics</a>  |  <a class="medgenPMinfo" href="/books/NBK558236#madd.Genetically_Related_Allelic_Disorde" target="NBK558236">Genetically Related (Allelic) Disorders</a>  |  <a class="medgenPMinfo" href="/books/NBK558236#madd.Differential_Diagnosis" target="NBK558236">Differential Diagnosis</a>  |  <a class="medgenPMinfo" href="/books/NBK558236#madd.Management" target="NBK558236">Management</a>  |  <a class="medgenPMinfo" href="/books/NBK558236#madd.Genetic_Counseling" target="NBK558236">Genetic Counseling</a>  |  <a class="medgenPMinfo" href="/books/NBK558236#madd.Resources" target="NBK558236">Resources</a>  |  <a class="medgenPMinfo" href="/books/NBK558236#madd.Molecular_Genetics" target="NBK558236">Molecular Genetics</a>  |  <a class="medgenPMinfo" href="/books/NBK558236#madd.Chapter_Notes" target="NBK558236">Chapter Notes</a>  |  <a class="medgenPMinfo" href="/books/NBK558236#madd.References" target="NBK558236">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
Pankaj Prasun   <a href="/books/NBK558236" target="NBK558236" title="NCBI Bookshelf: Multiple Acyl-CoA 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 />Glutaric aciduria II (GA2) is an autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It differs from GA I (GA1; 231670) in that multiple acyl-CoA dehydrogenase deficiencies result in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. GA II results from deficiency of any 1 of 3 molecules: the alpha (ETFA) and beta (ETFB) subunits of electron transfer flavoprotein, and electron transfer flavoprotein dehydrogenase (ETFDH). The clinical picture of GA II due to the different defects appears to be indistinguishable; each defect can lead to a range of mild or severe cases, depending presumably on the location and nature of the intragenic lesion, i.e., mutation, in each case (Goodman, 1993; Olsen et al., 2003).&#13;
The heterogeneous clinical features of patients with MADD fall into 3 classes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal and are characterized by severe nonketotic hypoglycemia, metabolic acidosis, multisystem involvement, and excretion of large amounts of fatty acid- and amino acid-derived metabolites. Symptoms and age at presentation of late-onset MADD are highly variable and characterized by recurrent episodes of lethargy, vomiting, hypoglycemia, metabolic acidosis, and hepatomegaly often preceded by metabolic stress. Muscle involvement in the form of pain, weakness, and lipid storage myopathy also occurs. The organic aciduria in patients with the late-onset form of MADD is often intermittent and only evident during periods of illness or catabolic stress (summary by Frerman and Goodman, 2001).&#13;
Importantly, riboflavin treatment has been shown to ameliorate the symptoms and metabolic profiles in many MADD patients, particularly those with type III, the late-onset and mildest form (Liang et al., 2009).  <a target="_blank" href="http://www.omim.org/entry/231680">http://www.omim.org/entry/231680</a></div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Glutaric acidemia type II is an inherited disorder that interferes with the body's ability to break down proteins and fats to produce energy. Incompletely processed proteins and fats can build up in the body and cause the blood and tissues to become too acidic (metabolic acidosis).<br /><br />Glutaric acidemia type II usually appears in infancy or early childhood as a sudden episode called a metabolic crisis, in which acidosis and low blood glucose (hypoglycemia) cause weakness, behavior changes such as poor feeding and decreased activity, and vomiting. These metabolic crises, which can be life-threatening, may be triggered by common childhood illnesses or other stresses.<br /><br />In the most severe cases of glutaric acidemia type II, affected individuals may also be born with physical abnormalities. These may include brain malformations, an enlarged liver (hepatomegaly), a weakened and enlarged heart (dilated cardiomyopathy), fluid-filled cysts and other malformations of the kidneys, unusual facial features, and genital abnormalities. Glutaric acidemia type II may also cause a characteristic odor resembling that of sweaty feet.<br /><br />Some affected individuals have less severe symptoms that begin later in childhood or in adulthood. In the mildest forms of glutaric acidemia type II, muscle weakness developing in adulthood may be the first sign of the disorder.  <a target="_blank" href="https://medlineplus.gov/genetics/condition/glutaric-acidemia-type-ii">https://medlineplus.gov/genetics/condition/glutaric-acidemia-type-ii</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_42267"><div><strong>Glycosuria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>42267</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)&#10;Click for more information.">C0017979</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">An increased concentration of glucose in the urine.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/42267">Feature record</a> | <a href="/medgen?term=%22Glycosuria%22%5BClinical%20Features%5D%20OR%2042267%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_9639"><div><strong>Polycystic kidney disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9639</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)&#10;Click for more information.">C0022680</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">The presence of multiple cysts in both kidneys.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/9639">Feature record</a> | <a href="/medgen?term=%22Polycystic%20kidney%20disease%22%5BClinical%20Features%5D%20OR%209639%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_75695"><div><strong>Glutaric aciduria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75695</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)&#10;Click for more information.">C0268594</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">The concentration of glutaric acid in the urine, normalized for urine concentration, is above the upper limit of normal.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/75695">Feature record</a> | <a href="/medgen?term=%22Glutaric%20aciduria%22%5BClinical%20Features%5D%20OR%2075695%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_155422"><div><strong>Abnormality of the genital system</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>155422</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)&#10;Click for more information.">C0744356</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">An abnormality of the genital system.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/155422">Feature record</a> | <a href="/medgen?term=%22Abnormality%20of%20the%20genital%20system%22%5BClinical%20Features%5D%20OR%20155422%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_326534"><div><strong>Proximal tubulopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>326534</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)&#10;Click for more information.">C1839603</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Dysfunction of the proximal tubule, which is the portion of the duct system of the nephron of the kidney which leads from Bowman's capsule to the loop of Henle.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/326534">Feature record</a> | <a href="/medgen?term=%22Proximal%20tubulopathy%22%5BClinical%20Features%5D%20OR%20326534%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_339863"><div><strong>Generalized aminoaciduria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>339863</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)&#10;Click for more information.">C1847868</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">An increased concentration of all types of amino acid in the urine.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/339863">Feature record</a> | <a href="/medgen?term=%22Generalized%20aminoaciduria%22%5BClinical%20Features%5D%20OR%20339863%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_355967"><div><strong>Ethylmalonic aciduria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>355967</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)&#10;Click for more information.">C1865353</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">The concentration of ethylmalonic acid in the urine, normalized for urine concentration, is above the upper limit of normal.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/355967">Feature record</a> | <a href="/medgen?term=%22Ethylmalonic%20aciduria%22%5BClinical%20Features%5D%20OR%20355967%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_370605"><div><strong>Renal cortical cysts</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>370605</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)&#10;Click for more information.">C1969144</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Cysts of the cortex of the kidney.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/370605">Feature record</a> | <a href="/medgen?term=%22Renal%20cortical%20cysts%22%5BClinical%20Features%5D%20OR%20370605%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_1863572"><div><strong>Elevated urinary 5-hydroxyhexanoic acid level</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1863572</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)&#10;Click for more information.">C5936776</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">The amount of 5-hydroxyhexanoic acid in the urine, normalized for urine concentration, is above the upper limit of normal.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1863572">Feature record</a> | <a href="/medgen?term=%22Elevated%20urinary%205-hydroxyhexanoic%20acid%20level%22%5BClinical%20Features%5D%20OR%201863572%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)&#10;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_43987"><div><strong>Jaundice</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>43987</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)&#10;Click for more information.">C0022346</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
<div class="spaceAbove">Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/43987">Feature record</a> | <a href="/medgen?term=%22Jaundice%22%5BClinical%20Features%5D%20OR%2043987%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_10196"><div><strong>Nausea</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10196</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)&#10;Click for more information.">C0027497</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
<div class="spaceAbove">A sensation of unease in the stomach together with an urge to vomit.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/10196">Feature record</a> | <a href="/medgen?term=%22Nausea%22%5BClinical%20Features%5D%20OR%2010196%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_12124"><div><strong>Vomiting</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>12124</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)&#10;Click for more information.">C0042963</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
<div class="spaceAbove">Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/12124">Feature record</a> | <a href="/medgen?term=%22Vomiting%22%5BClinical%20Features%5D%20OR%2012124%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_852664"><div><strong>Hepatic periportal necrosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>852664</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)&#10;Click for more information.">C0546389</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A type of hepatic necrosis that is concentrated around the necrosis of hepatocytes localized around the intrahepatic branch of portal vein.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/852664">Feature record</a> | <a href="/medgen?term=%22Hepatic%20periportal%20necrosis%22%5BClinical%20Features%5D%20OR%20852664%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)&#10;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_167800"><div><strong>Abnormal pinna morphology</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>167800</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)&#10;Click for more information.">C0857379</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">An abnormality of the pinna, which is also referred to as the auricle or external ear.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/167800">Feature record</a> | <a href="/medgen?term=%22Abnormal%20pinna%20morphology%22%5BClinical%20Features%5D%20OR%20167800%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_4899"><div><strong>Gliosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>4899</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)&#10;Click for more information.">C0017639</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
<div class="spaceAbove">Gliosis is the focal proliferation of glial cells in the central nervous system.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/4899">Feature record</a> | <a href="/medgen?term=%22Gliosis%22%5BClinical%20Features%5D%20OR%204899%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_5710"><div><strong>Hypoglycemic coma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5710</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)&#10;Click for more information.">C0020617</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Coma induced by low blood sugar.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/5710">Feature record</a> | <a href="/medgen?term=%22Hypoglycemic%20coma%22%5BClinical%20Features%5D%20OR%205710%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_120579"><div><strong>Macrogyria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120579</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)&#10;Click for more information.">C0266483</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Pachygyria is a malformation of cortical development with abnormally wide gyri with sulci 1,5-3 cm apart and abnormally thick cortex measuring more than 5 mm (radiological definition). See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/120579">Feature record</a> | <a href="/medgen?term=%22Macrogyria%22%5BClinical%20Features%5D%20OR%20120579%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)&#10;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)&#10;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_400926"><div><strong>Wide anterior fontanel</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>400926</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)&#10;Click for more information.">C1866134</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Enlargement of the anterior fontanelle with respect to age-dependent norms.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/400926">Feature record</a> | <a href="/medgen?term=%22Wide%20anterior%20fontanel%22%5BClinical%20Features%5D%20OR%20400926%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_745757"><div><strong>Macrocephaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>745757</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)&#10;Click for more information.">C2243051</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/745757">Feature record</a> | <a href="/medgen?term=%22Macrocephaly%22%5BClinical%20Features%5D%20OR%20745757%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_78574"><div><strong>Pulmonary hypoplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78574</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)&#10;Click for more information.">C0265783</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">A congenital abnormality in which the lung parenchyma is not fully developed. It may be associated with other congenital abnormalities.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/78574">Feature record</a> | <a href="/medgen?term=%22Pulmonary%20hypoplasia%22%5BClinical%20Features%5D%20OR%2078574%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_96907"><div><strong>Respiratory distress</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>96907</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)&#10;Click for more information.">C0476273</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
<div class="spaceAbove">Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/96907">Feature record</a> | <a href="/medgen?term=%22Respiratory%20distress%22%5BClinical%20Features%5D%20OR%2096907%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_1296"><div><strong>Acidosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1296</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)&#10;Click for more information.">C0001122</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
<div class="spaceAbove">Abnormal acid accumulation or depletion of base.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1296">Feature record</a> | <a href="/medgen?term=%22Acidosis%22%5BClinical%20Features%5D%20OR%201296%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_6979"><div><strong>Hypoglycemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6979</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0020615</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A decreased concentration of glucose in the blood.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/6979">Feature record</a> | <a href="/medgen?term=%22Hypoglycemia%22%5BClinical%20Features%5D%20OR%206979%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_871132"><div><strong>Elevated circulating glutaric acid concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>871132</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)&#10;Click for more information.">C4025603</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">An increased concentration of glutaric acid in the blood.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/871132">Feature record</a> | <a href="/medgen?term=%22Elevated%20circulating%20glutaric%20acid%20concentration%22%5BClinical%20Features%5D%20OR%20871132%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_65991"><div><strong>High forehead</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65991</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)&#10;Click for more information.">C0239676</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">An abnormally increased height of the forehead.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/65991">Feature record</a> | <a href="/medgen?term=%22High%20forehead%22%5BClinical%20Features%5D%20OR%2065991%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_140836"><div><strong>Telecanthus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140836</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)&#10;Click for more information.">C0423113</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/140836">Feature record</a> | <a href="/medgen?term=%22Telecanthus%22%5BClinical%20Features%5D%20OR%20140836%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_98409"><div><strong>Abnormal facial shape</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98409</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)&#10;Click for more information.">C0424503</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">An abnormal morphology (form) of the face or its components.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/98409">Feature record</a> | <a href="/medgen?term=%22Abnormal%20facial%20shape%22%5BClinical%20Features%5D%20OR%2098409%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_373112"><div><strong>Depressed nasal bridge</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>373112</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)&#10;Click for more information.">C1836542</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Posterior positioning of the nasal root in relation to the overall facial profile for age.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/373112">Feature record</a> | <a href="/medgen?term=%22Depressed%20nasal%20bridge%22%5BClinical%20Features%5D%20OR%20373112%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_3202"><div><strong>Developmental cataract</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3202</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)&#10;Click for more information.">C0009691</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">A cataract that occurs congenitally as the result of a developmental defect, in contrast to the majority of cataracts that occur in adulthood as the result of degenerative changes of the lens.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/3202">Feature record</a> | <a href="/medgen?term=%22Developmental%20cataract%22%5BClinical%20Features%5D%20OR%203202%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_871117"><div><strong>Electron transfer flavoprotein-ubiquinone oxidoreductase defect</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>871117</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)&#10;Click for more information.">C4025586</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">A deficiency of the electron transfer flavoprotein-ubiquinone oxidoreductase.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/871117">Feature record</a> | <a href="/medgen?term=%22Electron%20transfer%20flavoprotein-ubiquinone%20oxidoreductase%20defect%22%5BClinical%20Features%5D%20OR%20871117%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(&quot;.TreeLite&quot;,&quot;#ID_102&quot;).TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(&quot;.TreeLite&quot;,&quot;#ID_102&quot;).TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormal cellular phenotype</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_871117" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Electron transfer flavoprotein-ubiquinone oxidoreductase defect</a></span></li></ul></li><li><span class="TLline">Abnormality of head or neck</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98409" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormal facial shape</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_373112" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Depressed nasal bridge</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65991" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">High forehead</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_140836" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Telecanthus</a></span></li></ul></li><li><span class="TLline">Abnormality of metabolism/homeostasis</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1296" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Acidosis</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_871132" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Elevated circulating glutaric acid concentration</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6979" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypoglycemia</a></span></li></ul></li><li><span class="TLline">Abnormality of the digestive system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_852664" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hepatic periportal necrosis</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_398225" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hepatic steatosis</a></span></li><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_43987" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Jaundice</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10196" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nausea</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_12124" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Vomiting</a></span></li></ul></li><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_3202" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Developmental cataract</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_155422" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormality of the genital system</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1863572" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Elevated urinary 5-hydroxyhexanoic acid level</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_355967" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ethylmalonic aciduria</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_339863" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Generalized aminoaciduria</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_75695" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Glutaric aciduria</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_42267" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Glycosuria</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9639" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Polycystic kidney disease</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_326534" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Proximal tubulopathy</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_370605" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Renal cortical cysts</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10133" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypotonia</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_745757" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Macrocephaly</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><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_400926" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Wide anterior fontanel</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_4899" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gliosis</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_5710" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypoglycemic coma</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_120579" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Macrogyria</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_78574" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pulmonary hypoplasia</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_96907" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Respiratory distress</a></span></li></ul></li><li><span class="TLline">Ear malformation</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_167800" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormal pinna morphology</a></span></li></ul></li></ul></div></div>
</div>
<div class="portlet mgSection" id="ID_118">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li><li><a href="#tabORDO">Orphanet</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test,  </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test,  </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM,  </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>,  </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar  </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0268634[DISCUI]&amp;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&amp;ncbi_uid=468968&amp;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]&amp;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&amp;from_uid=91000" ref="ncbi_uid=91000">V</a></span></span><span class="TLline"><a href="/medgen/91000" ref="tree=GTR&amp;ncbi_uid=91000&amp;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]&amp;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&amp;from_uid=316820" ref="ncbi_uid=316820">V</a></span></span><span class="TLline"><a href="/medgen/316820" ref="tree=GTR&amp;ncbi_uid=316820&amp;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]&amp;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&amp;from_uid=322211" ref="ncbi_uid=322211">V</a></span></span><span class="TLline"><a href="/medgen/322211" ref="tree=GTR&amp;ncbi_uid=322211&amp;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]&amp;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&amp;from_uid=65086" ref="ncbi_uid=65086">V</a></span></span><span class="TLline"><a href="/medgen/65086" ref="tree=GTR&amp;ncbi_uid=65086&amp;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]&amp;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&amp;from_uid=370665" ref="ncbi_uid=370665">V</a></span></span><span class="TLline"><a href="/medgen/370665" ref="tree=GTR&amp;ncbi_uid=370665&amp;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]&amp;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&amp;from_uid=1053401" ref="ncbi_uid=1053401">V</a></span></span><span class="TLline"><a href="/medgen/1053401" ref="tree=GTR&amp;ncbi_uid=1053401&amp;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]&amp;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&amp;from_uid=1841010" ref="ncbi_uid=1841010">V</a></span></span><span class="TLline"><a href="/medgen/1841010" ref="tree=GTR&amp;ncbi_uid=1841010&amp;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="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0268596[DISCUI]&amp;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&amp;from_uid=75696" ref="ncbi_uid=75696">V</a></span></span><span class="TLline">Multiple acyl-CoA dehydrogenase deficiency</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]&amp;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]&amp;test_type=Research&amp;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&amp;from_uid=90999" ref="ncbi_uid=90999">V</a></span></span><span class="TLline"><a href="/medgen/90999" ref="tree=GTR&amp;ncbi_uid=90999&amp;link_uid=90999" title="View MedGen record for 'Renal carnitine transport defect'">Renal carnitine transport defect</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=C3887523[DISCUI]&amp;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&amp;from_uid=854382" ref="ncbi_uid=854382">V</a></span></span><span class="TLline"><a href="/medgen/854382" ref="tree=GTR&amp;ncbi_uid=854382&amp;link_uid=854382" title="View MedGen record for 'Very long chain acyl-CoA dehydrogenase deficiency'">Very long chain acyl-CoA dehydrogenase deficiency</a></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">Multiple acyl-CoA dehydrogenase deficiency</span><ul><li><span class="TLline"><a href="/medgen/1843108" ref="tree=MeSH" title="MedGen record for Multiple acyl-CoA dehydrogenase deficiency, mild type">Multiple acyl-CoA dehydrogenase deficiency, mild type</a></span></li><li><span class="TLline"><a href="/medgen/1842925" ref="tree=MeSH" title="MedGen record for Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type">Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type</a></span></li></ul></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&amp;data_id=156&amp;PatId=8766&amp;search=Disease_Classif_Simple&amp;new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Multiple acyl-CoA dehydrogenase deficiency</span> in Orphanet.</div></div></div>
</div>
<div class="portlet mgSection" id="ID_105">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
<div class="nl"><a target="_blank" href="/pubmed/37603033">Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samples.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Maier EM,
Mütze U,
Janzen N,
Steuerwald U,
Nennstiel U,
Odenwald B,
Schuhmann E,
Lotz-Havla AS,
Weiss KJ,
Hammersen J,
Weigel C,
Thimm E,
Grünert SC,
Hennermann JB,
Freisinger P,
Krämer J,
Das AM,
Illsinger S,
Gramer G,
Fang-Hoffmann J,
Garbade SF,
Okun JG,
Hoffmann GF,
Kölker S,
Röschinger W</span><br />
<span class="medgenPMjournal">J Inherit Metab Dis</span>
2023 Nov;46(6):1043-1062.
Epub 2023 Sep 12
doi: 10.1002/jimd.12671.
<span class="bold">PMID: </span><a href="/pubmed/37603033" target="_blank">37603033</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36334790">Incorporating second-tier genetic screening for multiple acyl-CoA dehydrogenase deficiency.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lin Y,
Zheng W,
Chen Y,
Huang C,
Fu Q,
Chen D,
Peng W</span><br />
<span class="medgenPMjournal">Clin Chim Acta</span>
2022 Dec 1;537:181-187.
Epub 2022 Nov 5
doi: 10.1016/j.cca.2022.10.024.
<span class="bold">PMID: </span><a href="/pubmed/36334790" target="_blank">36334790</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31904027">Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">van Rijt WJ,
Jager EA,
Allersma DP,
Aktuğlu Zeybek AÇ,
Bhattacharya K,
Debray FG,
Ellaway CJ,
Gautschi M,
Geraghty MT,
Gil-Ortega D,
Larson AA,
Moore F,
Morava E,
Morris AA,
Oishi K,
Schiff M,
Scholl-Bürgi S,
Tchan MC,
Vockley J,
Witters P,
Wortmann SB,
van Spronsen F,
Van Hove JLK,
Derks TGJ</span><br />
<span class="medgenPMjournal">Genet Med</span>
2020 May;22(5):908-916.
Epub 2020 Jan 6
doi: 10.1038/s41436-019-0739-z.
<span class="bold">PMID: </span><a href="/pubmed/31904027" target="_blank">31904027</a><a href="/pmc/articles/PMC7200590" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22multiple%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 (10)</a></div><h3 class="subhead">Curated<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpCurated"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3><h3 class="nl vspace"><a href="https://www.acmg.net/PDFLibrary/Glutaric-Aciduria-Type-2-ACT-Sheet.pdf" target="_blank">American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Elevated C4 and C5 +/- Other Acylcarnitines, Glutaric Acidemia II (GA-II) (MADD), 2022</a></h3>
<h3 class="nl vspace"><a href="https://www.acmg.net/PDFLibrary/C4-C5-Elevated-Algorithm.pdf" target="_blank">American College of Medical Genetics and Genomics, Algorithm, Glutaric Acidemia II (GA-II)/ MADD, Riboflavin Metabolism Disorder, Ethylmalonic Encephalopathy: C4 and C5 elevated +/- other elevated acylcarnitines (AC), 2022</a></h3>
<h3 class="nl vspace"><a href="https://www.acmg.net/PDFLibrary/C8-C6-C10.pdf" target="_blank">American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Elevated C8 with Lesser Elevations of C6 and C10 Acylcarnitine, Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency, 2021</a></h3>
<h3 class="nl vspace"><a href="https://www.acmg.net/PDFLibrary/C8-C6-C10-Algorithm.pdf" target="_blank">American College of Medical Genetics and Genomics, Algorithm, C8 Elevated + Lesser Elevations of C6 and C10, 2021</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/38365830">The male-to-female ratio in late-onset multiple acyl-CoA dehydrogenase deficiency: a systematic review and meta-analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ma J,
Zhang H,
Liang F,
Li G,
Pang X,
Zhao R,
Wang J,
Chang X,
Guo J,
Zhang W</span><br />
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
2024 Feb 16;19(1):72.
doi: 10.1186/s13023-024-03072-6.
<span class="bold">PMID: </span><a href="/pubmed/38365830" target="_blank">38365830</a><a href="/pmc/articles/PMC10873946" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24997454">Spectrum of metabolic myopathies.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Angelini C</span><br />
<span class="medgenPMjournal">Biochim Biophys Acta</span>
2015 Apr;1852(4):615-21.
Epub 2014 Jul 2
doi: 10.1016/j.bbadis.2014.06.031.
<span class="bold">PMID: </span><a href="/pubmed/24997454" target="_blank">24997454</a></div>
<div class="nl"><a target="_blank" href="/pubmed/17060596">Late-onset multiple acyl-CoA dehydrogenase deficiency: a frequently missed diagnosis?</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Köppel S,
Gottschalk J,
Hoffmann GF,
Waterham HR,
Blobel H,
Kölker S</span><br />
<span class="medgenPMjournal">Neurology</span>
2006 Oct 24;67(8):1519.
doi: 10.1212/01.wnl.0000240065.35635.a6.
<span class="bold">PMID: </span><a href="/pubmed/17060596" target="_blank">17060596</a></div>
<div class="nl"><a target="_blank" href="/pubmed/10896290">Antenatal expression of multiple acyl-CoA dehydrogenase deficiency.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Vianey-Saban C,
Bouvier R,
Cochat P,
Buenerd A,
Divry P,
Dumoulin R,
Cordier MP</span><br />
<span class="medgenPMjournal">J Inherit Metab Dis</span>
2000 Jun;23(4):345-8.
doi: 10.1023/a:1005623028638.
<span class="bold">PMID: </span><a href="/pubmed/10896290" target="_blank">10896290</a></div>
<div class="nl"><a target="_blank" href="/pubmed/8803790">Neonatal multiple acyl-CoA dehydrogenase deficiency: essentially absent fatty acid oxidation activity in proband but normal activity in parental cultured skin fibroblasts.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ip WC,
Hammond JW,
Wilcken B</span><br />
<span class="medgenPMjournal">J Inherit Metab Dis</span>
1996;19(3):379-80.
doi: 10.1007/BF01799277.
<span class="bold">PMID: </span><a href="/pubmed/8803790" target="_blank">8803790</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Multiple%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 (89)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/39017649">Late-onset myopathies.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Salort-Campana E,
Attarian S</span><br />
<span class="medgenPMjournal">Curr Opin Neurol</span>
2024 Oct 1;37(5):523-535.
Epub 2024 Jul 16
doi: 10.1097/WCO.0000000000001298.
<span class="bold">PMID: </span><a href="/pubmed/39017649" target="_blank">39017649</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34470039">An Unusually High Excretion of Ethylmalonic Acid in a Patient with Multiple Acyl-CoA Dehydrogenase Deficiency.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">De Biase I,
Yuzyuk T,
Hernandez A,
Basinger A</span><br />
<span class="medgenPMjournal">Clin Chem</span>
2021 Sep 1;67(9):1290-1292.
doi: 10.1093/clinchem/hvab096.
<span class="bold">PMID: </span><a href="/pubmed/34470039" target="_blank">34470039</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30801335">Late Onset Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) Myopathy Misdiagnosed as Polymyositis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Barp A,
Bellance R,
Malfatti E,
Rigal O,
Acquaviva-Bourdain C,
Laforet P</span><br />
<span class="medgenPMjournal">J Clin Rheumatol</span>
2020 Aug;26(5):e125-e127.
doi: 10.1097/RHU.0000000000001000.
<span class="bold">PMID: </span><a href="/pubmed/30801335" target="_blank">30801335</a></div>
<div class="nl"><a target="_blank" href="/pubmed/17060596">Late-onset multiple acyl-CoA dehydrogenase deficiency: a frequently missed diagnosis?</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Köppel S,
Gottschalk J,
Hoffmann GF,
Waterham HR,
Blobel H,
Kölker S</span><br />
<span class="medgenPMjournal">Neurology</span>
2006 Oct 24;67(8):1519.
doi: 10.1212/01.wnl.0000240065.35635.a6.
<span class="bold">PMID: </span><a href="/pubmed/17060596" target="_blank">17060596</a></div>
<div class="nl"><a target="_blank" href="/pubmed/10896290">Antenatal expression of multiple acyl-CoA dehydrogenase deficiency.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Vianey-Saban C,
Bouvier R,
Cochat P,
Buenerd A,
Divry P,
Dumoulin R,
Cordier MP</span><br />
<span class="medgenPMjournal">J Inherit Metab Dis</span>
2000 Jun;23(4):345-8.
doi: 10.1023/a:1005623028638.
<span class="bold">PMID: </span><a href="/pubmed/10896290" target="_blank">10896290</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Multiple%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 (108)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/37217231">Late-onset multiple acyl-CoA dehydrogenase deficiency: an insidious presentation.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Rao NN,
Burns K,
Manolikos C,
Hodge S</span><br />
<span class="medgenPMjournal">BMJ Case Rep</span>
2023 May 22;16(5)
doi: 10.1136/bcr-2022-252668.
<span class="bold">PMID: </span><a href="/pubmed/37217231" target="_blank">37217231</a><a href="/pmc/articles/PMC10230867" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35734957">Characterization of 31 Patients with Riboflavin-Responsive Multiple acyl-CoA Dehydrogenase Deficiency.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang J,
Han J,
Wang Y,
Wu Y,
Ma L,
Song X,
Ji G</span><br />
<span class="medgenPMjournal">Balkan Med J</span>
2022 Jul 22;39(4):290-296.
Epub 2022 Jun 23
doi: 10.4274/balkanmedj.galenos.2022.2022-1-127.
<span class="bold">PMID: </span><a href="/pubmed/35734957" target="_blank">35734957</a><a href="/pmc/articles/PMC9326949" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33886098">Riboflavin in Neurological Diseases: A Narrative Review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Plantone D,
Pardini M,
Rinaldi G</span><br />
<span class="medgenPMjournal">Clin Drug Investig</span>
2021 Jun;41(6):513-527.
Epub 2021 Apr 22
doi: 10.1007/s40261-021-01038-1.
<span class="bold">PMID: </span><a href="/pubmed/33886098" target="_blank">33886098</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32608139">Investigation of adult-onset multiple acyl-CoA dehydrogenase deficiency associated with peripheral neuropathy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Huang K,
Duan HQ,
Li QX,
Luo YB,
Yang H</span><br />
<span class="medgenPMjournal">Neuropathology</span>
2020 Dec;40(6):531-539.
Epub 2020 Jun 30
doi: 10.1111/neup.12667.
<span class="bold">PMID: </span><a href="/pubmed/32608139" target="_blank">32608139</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31331668">Determinants of Riboflavin Responsiveness in Multiple Acyl-CoA Dehydrogenase Deficiency.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Yıldız Y,
Talim B,
Haliloglu G,
Topaloglu H,
Akçören Z,
Dursun A,
Sivri HS,
Coşkun T,
Tokatlı A</span><br />
<span class="medgenPMjournal">Pediatr Neurol</span>
2019 Oct;99:69-75.
Epub 2019 Jun 28
doi: 10.1016/j.pediatrneurol.2019.06.015.
<span class="bold">PMID: </span><a href="/pubmed/31331668" target="_blank">31331668</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Multiple%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 (45)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/36334790">Incorporating second-tier genetic screening for multiple acyl-CoA dehydrogenase deficiency.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lin Y,
Zheng W,
Chen Y,
Huang C,
Fu Q,
Chen D,
Peng W</span><br />
<span class="medgenPMjournal">Clin Chim Acta</span>
2022 Dec 1;537:181-187.
Epub 2022 Nov 5
doi: 10.1016/j.cca.2022.10.024.
<span class="bold">PMID: </span><a href="/pubmed/36334790" target="_blank">36334790</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34704421">Screening of multiple acyl-CoA dehydrogenase deficiency in newborns and follow-up of patients.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Zhou D,
Ye M,
Hu Z,
Zhang Y,
Zhu L,
Yang R,
Huang X</span><br />
<span class="medgenPMjournal">Zhejiang Da Xue Xue Bao Yi Xue Ban</span>
2021 Aug 25;50(4):454-462.
doi: 10.3724/zdxbyxb-2021-0261.
<span class="bold">PMID: </span><a href="/pubmed/34704421" target="_blank">34704421</a><a href="/pmc/articles/PMC8714481" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33886098">Riboflavin in Neurological Diseases: A Narrative Review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Plantone D,
Pardini M,
Rinaldi G</span><br />
<span class="medgenPMjournal">Clin Drug Investig</span>
2021 Jun;41(6):513-527.
Epub 2021 Apr 22
doi: 10.1007/s40261-021-01038-1.
<span class="bold">PMID: </span><a href="/pubmed/33886098" target="_blank">33886098</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33823724">ETF dehydrogenase advances in molecular genetics and impact on treatment.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Missaglia S,
Tavian D,
Angelini C</span><br />
<span class="medgenPMjournal">Crit Rev Biochem Mol Biol</span>
2021 Aug;56(4):360-372.
Epub 2021 Apr 7
doi: 10.1080/10409238.2021.1908952.
<span class="bold">PMID: </span><a href="/pubmed/33823724" target="_blank">33823724</a></div>
<div class="nl"><a target="_blank" href="/pubmed/10896290">Antenatal expression of multiple acyl-CoA dehydrogenase deficiency.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Vianey-Saban C,
Bouvier R,
Cochat P,
Buenerd A,
Divry P,
Dumoulin R,
Cordier MP</span><br />
<span class="medgenPMjournal">J Inherit Metab Dis</span>
2000 Jun;23(4):345-8.
doi: 10.1023/a:1005623028638.
<span class="bold">PMID: </span><a href="/pubmed/10896290" target="_blank">10896290</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Multiple%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 (36)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/36334790">Incorporating second-tier genetic screening for multiple acyl-CoA dehydrogenase deficiency.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lin Y,
Zheng W,
Chen Y,
Huang C,
Fu Q,
Chen D,
Peng W</span><br />
<span class="medgenPMjournal">Clin Chim Acta</span>
2022 Dec 1;537:181-187.
Epub 2022 Nov 5
doi: 10.1016/j.cca.2022.10.024.
<span class="bold">PMID: </span><a href="/pubmed/36334790" target="_blank">36334790</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33823724">ETF dehydrogenase advances in molecular genetics and impact on treatment.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Missaglia S,
Tavian D,
Angelini C</span><br />
<span class="medgenPMjournal">Crit Rev Biochem Mol Biol</span>
2021 Aug;56(4):360-372.
Epub 2021 Apr 7
doi: 10.1080/10409238.2021.1908952.
<span class="bold">PMID: </span><a href="/pubmed/33823724" target="_blank">33823724</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31268564">Prediction of disease severity in multiple acyl-CoA dehydrogenase deficiency: A retrospective and laboratory cohort study.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">van Rijt WJ,
Ferdinandusse S,
Giannopoulos P,
Ruiter JPN,
de Boer L,
Bosch AM,
Huidekoper HH,
Rubio-Gozalbo ME,
Visser G,
Williams M,
Wanders RJA,
Derks TGJ</span><br />
<span class="medgenPMjournal">J Inherit Metab Dis</span>
2019 Sep;42(5):878-889.
Epub 2019 Jul 17
doi: 10.1002/jimd.12147.
<span class="bold">PMID: </span><a href="/pubmed/31268564" target="_blank">31268564</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27591119">Efficacy of bezafibrate on fibroblasts of glutaric acidemia type II patients evaluated using an in vitro probe acylcarnitine assay.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Yamada K,
Kobayashi H,
Bo R,
Purevsuren J,
Mushimoto Y,
Takahashi T,
Hasegawa Y,
Taketani T,
Fukuda S,
Yamaguchi S</span><br />
<span class="medgenPMjournal">Brain Dev</span>
2017 Jan;39(1):48-57.
Epub 2016 Aug 30
doi: 10.1016/j.braindev.2016.08.004.
<span class="bold">PMID: </span><a href="/pubmed/27591119" target="_blank">27591119</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25091424">Genetic bases and clinical manifestations of coenzyme Q10 (CoQ 10) deficiency.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Desbats MA,
Lunardi G,
Doimo M,
Trevisson E,
Salviati L</span><br />
<span class="medgenPMjournal">J Inherit Metab Dis</span>
2015 Jan;38(1):145-56.
Epub 2014 Aug 5
doi: 10.1007/s10545-014-9749-9.
<span class="bold">PMID: </span><a href="/pubmed/25091424" target="_blank">25091424</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Multiple%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 (44)</a></div></div>
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<div class="portlet mgSection" id="ID_104">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln">
<div class="nl"><a target="_blank" href="/pubmed/38365830">The male-to-female ratio in late-onset multiple acyl-CoA dehydrogenase deficiency: a systematic review and meta-analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ma J,
Zhang H,
Liang F,
Li G,
Pang X,
Zhao R,
Wang J,
Chang X,
Guo J,
Zhang W</span><br />
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
2024 Feb 16;19(1):72.
doi: 10.1186/s13023-024-03072-6.
<span class="bold">PMID: </span><a href="/pubmed/38365830" target="_blank">38365830</a><a href="/pmc/articles/PMC10873946" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33720849">Targeted Therapies for Metabolic Myopathies Related to Glycogen Storage and Lipid Metabolism: a Systematic Review and Steps Towards a 'Treatabolome'.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Manta A,
Spendiff S,
Lochmüller H,
Thompson R</span><br />
<span class="medgenPMjournal">J Neuromuscul Dis</span>
2021;8(3):401-417.
doi: 10.3233/JND-200621.
<span class="bold">PMID: </span><a href="/pubmed/33720849" target="_blank">33720849</a><a href="/pmc/articles/PMC8203237" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31904027">Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">van Rijt WJ,
Jager EA,
Allersma DP,
Aktuğlu Zeybek AÇ,
Bhattacharya K,
Debray FG,
Ellaway CJ,
Gautschi M,
Geraghty MT,
Gil-Ortega D,
Larson AA,
Moore F,
Morava E,
Morris AA,
Oishi K,
Schiff M,
Scholl-Bürgi S,
Tchan MC,
Vockley J,
Witters P,
Wortmann SB,
van Spronsen F,
Van Hove JLK,
Derks TGJ</span><br />
<span class="medgenPMjournal">Genet Med</span>
2020 May;22(5):908-916.
Epub 2020 Jan 6
doi: 10.1038/s41436-019-0739-z.
<span class="bold">PMID: </span><a href="/pubmed/31904027" target="_blank">31904027</a><a href="/pmc/articles/PMC7200590" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Multiple%20acyl-CoA%20dehydrogenase%20deficiency%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (3)</a></div></div>
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<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0268596%5bDISCUI%5d&amp;filter=method%3A1%5F1" target="_blank">Analyte (10)</a></li>
<li><a href="/gtr/tests?term=C0268596%5bDISCUI%5d&amp;filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (78)</a></li>
<li><a href="/gtr/tests?term=C0268596%5bDISCUI%5d&amp;filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (1)</a></li>
<li><a href="/gtr/tests?term=C0268596%5bDISCUI%5d&amp;filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (4)</a></li>
<li><a href="/gtr/tests?term=C0268596%5bDISCUI%5d&amp;filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (98)</a></li>
<li><a href="/gtr/tests?term=C0268596%5bDISCUI%5d&amp;filter=method%3A2%5F19" target="_blank">Targeted variant analysis (32)</a></li>
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0268596%5bDISCUI%5d" target="_blank">See all (128)</a></total></li>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&amp;start=1&amp;limit=10&amp;sort=score%20desc&amp;field=number&amp;search=231680" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=26791" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Multiple%20acyl-CoA%20dehydrogenase%20deficiency" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22multiple%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://www.acmg.net/PDFLibrary/Glutaric-Aciduria-Type-2-ACT-Sheet.pdf">ACMG ACT, 2022</a><div>American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Elevated C4 and C5 +/- Other Acylcarnitines, Glutaric Acidemia II (GA-II) (MADD), 2022</div></li><li><a target="_blank" href="https://www.acmg.net/PDFLibrary/C4-C5-Elevated-Algorithm.pdf">ACMG Algorithm,</a><div>American College of Medical Genetics and Genomics, Algorithm, Glutaric Acidemia II (GA-II)/ MADD, Riboflavin Metabolism Disorder, Ethylmalonic Encephalopathy: C4 and C5 elevated +/- other elevated acylcarnitines (AC), 2022</div></li><li><a target="_blank" href="https://www.acmg.net/PDFLibrary/C8-C6-C10.pdf">ACMG ACT, 2021</a><div>American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Elevated C8 with Lesser Elevations of C6 and C10 Acylcarnitine, Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency, 2021</div></li><li><a target="_blank" href="https://www.acmg.net/PDFLibrary/C8-C6-C10-Algorithm.pdf">ACMG Algorithm, 2021</a><div>American College of Medical Genetics and Genomics, Algorithm, C8 Elevated + Lesser Elevations of C6 and C10, 2021</div></li></ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&amp;start=1&amp;limit=10&amp;sort=score%20desc&amp;field=number&amp;search=130410%20231675%20608053" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=2108[geneid]" target="_blank">View ETFA variations in ClinVar</a></li><li><a href="/clinvar/?term=2109[geneid]" target="_blank">View ETFB variations in ClinVar</a></li><li><a href="/clinvar/?term=2110[geneid]" target="_blank">View ETFDH variations in ClinVar</a></li><li><a href="/nuccore/161086963,163954975,214831382" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=231680" 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/Glutaric+Acidemia+II/3111" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/multiple_acyl_coa_dehydrogenase_deficiency" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&amp;query=Multiple%20acyl-CoA%20dehydrogenase%20deficiency" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/glutaric-acidemia-type-ii" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/6523/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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