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<meta name="keywords" content="C0342791, cact deficiency, cactd, carnitine acylcarnitine translocase deficiency, carnitine-acylcarnitine carrier deficiency, carnitine-acylcarnitine translocase deficiency, disease or syndrome, slc25a20, 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="Carnitine-acylcarnitine translocase (CACT) is a critical component of the carnitine shuttle, which facilitates the transfer of long-chain fatty acylcarnitines across the inner mitochondrial membrane. CACT deficiency causes a defect in mitochondrial long-chain fatty acid ß-oxidation, with variable clinical severity. Severe neonatal-onset disease is most common, with symptoms evident within two days after birth; attenuated cases may present in the first months of life. Hyperammonemia and cardiac arrhythmia are prominent in early-onset disease, with high rates of cardiac arrest. Other clinical features are typical for disorders of long-chain fatty acid oxidation: poor feeding, lethargy, hypoketotic hypoglycemia, hypotonia, transaminitis, liver dysfunction with hepatomegaly, and rhabdomyolysis. Univentricular or biventricular hypertrophic cardiomyopathy, ranging from mild to severe, may respond to appropriate dietary and medical therapies. Hyperammonemia is difficult to treat and is an important determinant of long-term neurocognitive outcome. Affected individuals with early-onset disease typically experience brain injury at presentation, and have recurrent hyperammonemia leading to developmental delay / intellectual disability. Affected individuals with later-onset disease have milder symptoms and are less likely to experience recurrent hyperammonemia, allowing a better developmental outcome. Prompt treatment of the presenting episode to prevent hypoglycemic, hypoxic, or hyperammonemic brain injury may allow normal growth and development." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Carnitine acylcarnitine translocase deficiency (Concept Id: C0342791)
- MedGen - NCBI</title>
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<!--
UID=91000
ConceptID=C0342791
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Carnitine acylcarnitine translocase deficiency<span class="h1sub">(CACTD)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>91000</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."><span class="highlight" style="background-color:">C0342791</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
<td>CACTD</td></tr>
<tr><td><span class="bold">SNOMED CT: </span></td>
<td>Carnitine acylcarnitine translocase deficiency (238003000)</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">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
Gene(s) directly associated with<br />
this condition or phenotype.</div></td>
<td><a target="_blank" title="SLC25A20 - ID: 788 - NCBI Gene" href="/gene/788" class="medgenPMinfo">SLC25A20</a> (3p21.31)</td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
<td><a href="https://monarchinitiative.org/disease/MONDO:0008918" target="_blank">MONDO:0008918</a></td></tr>
<tr><td>OMIM<span class="superscript">®</span>:</td>
<td><a href="https://omim.org/entry/212138" target="_blank">212138</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=159">ORPHA159</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/NBK582032" target="_blank">Carnitine-Acylcarnitine Translocase Deficiency</a></div><div>Carnitine-acylcarnitine translocase (CACT) is a critical component of the carnitine shuttle, which facilitates the transfer of long-chain fatty acylcarnitines across the inner mitochondrial membrane. CACT deficiency causes a defect in mitochondrial long-chain fatty acid β-oxidation, with variable clinical severity. Severe neonatal-onset disease is most common, with symptoms evident within two days after birth; attenuated cases may present in the first months of life. Hyperammonemia and cardiac arrhythmia are prominent in early-onset disease, with high rates of cardiac arrest. Other clinical features are typical for disorders of long-chain fatty acid oxidation: poor feeding, lethargy, hypoketotic hypoglycemia, hypotonia, transaminitis, liver dysfunction with hepatomegaly, and rhabdomyolysis. Univentricular or biventricular hypertrophic cardiomyopathy, ranging from mild to severe, may respond to appropriate dietary and medical therapies. Hyperammonemia is difficult to treat and is an important determinant of long-term neurocognitive outcome. Affected individuals with early-onset disease typically experience brain injury at presentation, and have recurrent hyperammonemia leading to developmental delay / intellectual disability. Affected individuals with later-onset disease have milder symptoms and are less likely to experience recurrent hyperammonemia, allowing a better developmental outcome. Prompt treatment of the presenting episode to prevent hypoglycemic, hypoxic, or hyperammonemic brain injury may allow normal growth and development. [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/NBK582032#cact-def.Summary" target="NBK582032">Summary</a>  |  <a class="medgenPMinfo" href="/books/NBK582032#cact-def.Diagnosis" target="NBK582032">Diagnosis</a>  |  <a class="medgenPMinfo" href="/books/NBK582032#cact-def.Clinical_Characteristics" target="NBK582032">Clinical Characteristics</a>  |  <a class="medgenPMinfo" href="/books/NBK582032#cact-def.Genetically_Related_Allelic_Dis" target="NBK582032">Genetically Related (Allelic) Disorders</a>  |  <a class="medgenPMinfo" href="/books/NBK582032#cact-def.Differential_Diagnosis" target="NBK582032">Differential Diagnosis</a>  |  <a class="medgenPMinfo" href="/books/NBK582032#cact-def.Management" target="NBK582032">Management</a>  |  <a class="medgenPMinfo" href="/books/NBK582032#cact-def.Genetic_Counseling" target="NBK582032">Genetic Counseling</a>  |  <a class="medgenPMinfo" href="/books/NBK582032#cact-def.Resources" target="NBK582032">Resources</a>  |  <a class="medgenPMinfo" href="/books/NBK582032#cact-def.Molecular_Genetics" target="NBK582032">Molecular Genetics</a>  |  <a class="medgenPMinfo" href="/books/NBK582032#cact-def.Chapter_Notes" target="NBK582032">Chapter Notes</a>  |  <a class="medgenPMinfo" href="/books/NBK582032#cact-def.References" target="NBK582032">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
J Andres Morales Corado  |  Chung U Lee  |  Gregory M Enns   <a href="/books/NBK582032" target="NBK582032" title="NCBI Bookshelf: Carnitine-Acylcarnitine Translocase 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 />Carnitine-acylcarnitine translocase deficiency is a rare autosomal recessive metabolic disorder of long-chain fatty acid oxidation. Metabolic consequences include hypoketotic hypoglycemia under fasting conditions, hyperammonemia, elevated creatine kinase and transaminases, dicarboxylic aciduria, very low free carnitine and abnormal acylcarnitine profile with marked elevation of the long-chain acylcarnitines. Clinical features include neurologic abnormalities, cardiomyopathy and arrhythmias, skeletal muscle damage, and liver dysfunction. Most patients become symptomatic in the neonatal period with a rapidly progressive deterioration and a high mortality rate. However, presentations at a later age with a milder phenotype have been reported (summary by Rubio-Gozalbo et al., 2004).  <a target="_blank" href="http://www.omim.org/entry/212138">http://www.omim.org/entry/212138</a></div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Carnitine-acylcarnitine translocase (CACT) deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). Signs and symptoms of this disorder usually begin soon after birth and may include breathing problems, seizures, and an irregular heartbeat (arrhythmia). Affected individuals typically have low blood glucose (hypoglycemia) and a low level of ketones, which are produced during the breakdown of fats and used for energy. Together these signs are called hypoketotic hypoglycemia. People with CACT deficiency also usually have excess ammonia in the blood (hyperammonemia), an enlarged liver (hepatomegaly), and a weakened heart muscle (cardiomyopathy).<br /><br />Many infants with CACT deficiency do not survive the newborn period. Some affected individuals have a less severe form of the condition and do not develop signs and symptoms until early childhood. These individuals are at risk for liver failure, nervous system damage, coma, and sudden death.  <a target="_blank" href="https://medlineplus.gov/genetics/condition/carnitine-acylcarnitine-translocase-deficiency">https://medlineplus.gov/genetics/condition/carnitine-acylcarnitine-translocase-deficiency</a></div></div>
</div>
<div class="portlet mgSection" id="ID_102">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
<div class="divPopper rprt" id="clin_343550"><div><strong>Dicarboxylic aciduria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343550</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1856432</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">An increased concentration of dicarboxylic acid in the urine.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/343550">Feature record</a> | <a href="/medgen?term=%22Dicarboxylic%20aciduria%22%5BClinical%20Features%5D%20OR%20343550%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_13956"><div><strong>Atrioventricular block</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>13956</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.">C0004245</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Delayed or lack of conduction of atrial depolarizations through the atrioventricular node to the ventricles.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/13956">Feature record</a> | <a href="/medgen?term=%22Atrioventricular%20block%22%5BClinical%20Features%5D%20OR%2013956%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_5456"><div><strong>Cardiac arrest</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5456</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.">C0018790</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">An abrupt loss of heart function.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/5456">Feature record</a> | <a href="/medgen?term=%22Cardiac%20arrest%22%5BClinical%20Features%5D%20OR%205456%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_5715"><div><strong>Hypotension</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5715</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.">C0020649</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Low Blood Pressure, vascular hypotension.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/5715">Feature record</a> | <a href="/medgen?term=%22Hypotension%22%5BClinical%20Features%5D%20OR%205715%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_12068"><div><strong>Ventricular tachycardia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>12068</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.">C0042514</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">A tachycardia originating in the ventricles characterized by rapid heart rate (over 100 beats per minute) and broad QRS complexes (over 120 ms).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/12068">Feature record</a> | <a href="/medgen?term=%22Ventricular%20tachycardia%22%5BClinical%20Features%5D%20OR%2012068%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_56236"><div><strong>Premature ventricular contraction</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>56236</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.">C0151636</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Premature ventricular contractions (PVC) or ventricular extrasystoles are premature contractions of the heart that arise in response to an impulse in the ventricles rather than the normal impulse from the sinoatrial (SA) node.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/56236">Feature record</a> | <a href="/medgen?term=%22Premature%20ventricular%20contraction%22%5BClinical%20Features%5D%20OR%2056236%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_87400"><div><strong>Ventricular hypertrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>87400</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.">C0340279</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Enlargement of the cardiac ventricular muscle tissue with increase in the width of the wall of the ventricle and loss of elasticity. Ventricular hypertrophy is clinically differentiated into left and right ventricular hypertrophy.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/87400">Feature record</a> | <a href="/medgen?term=%22Ventricular%20hypertrophy%22%5BClinical%20Features%5D%20OR%2087400%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_140901"><div><strong>Bradycardia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140901</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.">C0428977</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">A slower than normal heart rate (in adults, slower than 60 beats per minute).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/140901">Feature record</a> | <a href="/medgen?term=%22Bradycardia%22%5BClinical%20Features%5D%20OR%20140901%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_209232"><div><strong>Cardiomyopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>209232</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0878544</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/209232">Feature record</a> | <a href="/medgen?term=%22Cardiomyopathy%22%5BClinical%20Features%5D%20OR%20209232%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_42428"><div><strong>Hepatomegaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>42428</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#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_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_1054"><div><strong>Coma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1054</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.">C0009421</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">The complete absence of wakefulness and consciousness, which is evident through a lack of response to any form of external stimuli.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1054">Feature record</a> | <a href="/medgen?term=%22Coma%22%5BClinical%20Features%5D%20OR%201054%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_7310"><div><strong>Lethargy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7310</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0023380</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
<div class="spaceAbove">A state of fatigue, either physical or mental slowness and sluggishness, with difficulties in initiating or performing simple tasks. Distinguished from apathy which implies indifference and a lack of desire or interest in the task. A person with lethargy may have the desire, but not the energy to engage in personal or socially relevant tasks.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/7310">Feature record</a> | <a href="/medgen?term=%22Lethargy%22%5BClinical%20Features%5D%20OR%207310%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_20693"><div><strong>Seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>20693</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.">C0036572</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
<div class="spaceAbove">A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/20693">Feature record</a> | <a href="/medgen?term=%22Seizure%22%5BClinical%20Features%5D%20OR%2020693%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_397841"><div><strong>Irritability</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>397841</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.">C2700617</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental Process</dd></dl></div></div></div>
<div class="spaceAbove">A proneness to anger, i.e., a tendency to become easily bothered or annoyed.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen?term=%22Irritability%22%5BClinical%20Features%5D%20OR%20397841%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_19775"><div><strong>Rhabdomyolysis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>19775</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.">C0035410</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
<div class="spaceAbove">Breakdown of muscle fibers that leads to the release of muscle fiber contents (myoglobin) into the bloodstream.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/19775">Feature record</a> | <a href="/medgen?term=%22Rhabdomyolysis%22%5BClinical%20Features%5D%20OR%2019775%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_346841"><div><strong>Generalized hypotonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>346841</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1858120</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Generalized muscular hypotonia (abnormally low muscle tone).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/346841">Feature record</a> | <a href="/medgen?term=%22Generalized%20hypotonia%22%5BClinical%20Features%5D%20OR%20346841%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_154664"><div><strong>Cardiorespiratory arrest</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>154664</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.">C0600228</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
<div class="spaceAbove">Cessation of breathing and/or cardiac function.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/154664">Feature record</a> | <a href="/medgen?term=%22Cardiorespiratory%20arrest%22%5BClinical%20Features%5D%20OR%20154664%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_57646"><div><strong>Neonatal hypoglycemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57646</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.">C0158986</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Blood glucose concentration below the lower limit of established reference ranges in a newborn.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/57646">Feature record</a> | <a href="/medgen?term=%22Neonatal%20hypoglycemia%22%5BClinical%20Features%5D%20OR%2057646%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_116013"><div><strong>Elevated circulating hepatic transaminase concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>116013</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.">C0235996</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/116013">Feature record</a> | <a href="/medgen?term=%22Elevated%20circulating%20hepatic%20transaminase%20concentration%22%5BClinical%20Features%5D%20OR%20116013%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_69128"><div><strong>Elevated circulating creatine kinase concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>69128</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0241005</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood. CK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/69128">Feature record</a> | <a href="/medgen?term=%22Elevated%20circulating%20creatine%20kinase%20concentration%22%5BClinical%20Features%5D%20OR%2069128%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_1802066"><div><strong>Hyperammonemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1802066</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5574662</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Laboratory or Test Result</dd></dl></div></div></div>
<div class="spaceAbove">An increased concentration of ammonia in the blood.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen?term=%22Hyperammonemia%22%5BClinical%20Features%5D%20OR%201802066%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_1864095"><div><strong>Reduced tissue carnitine-acylcarnitine translocase activity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1864095</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.">C5937336</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Activity of carnitine-acylcarnitine translocase (CACT) in tissues below the lower limit of normal. CACT activity can be measured in multiple tissues.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1864095">Feature record</a> | <a href="/medgen?term=%22Reduced%20tissue%20carnitine-acylcarnitine%20translocase%20activity%22%5BClinical%20Features%5D%20OR%201864095%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_1863982"><div><strong>Reduced circulating 6-pyruvoyltetrahydropterin synthase activity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1863982</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.">C5937337</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">The activity of 6-pyruvoyltetrahydropterin synthase in the blood circulation is below the lower limit of normal.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1863982">Feature record</a> | <a href="/medgen?term=%22Reduced%20circulating%206-pyruvoyltetrahydropterin%20synthase%20activity%22%5BClinical%20Features%5D%20OR%201863982%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">Abnormality of metabolism/homeostasis</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_69128" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Elevated circulating creatine kinase concentration</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_116013" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Elevated circulating hepatic transaminase concentration</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1802066" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperammonemia</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_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><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57646" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neonatal hypoglycemia</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1863982" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Reduced circulating 6-pyruvoyltetrahydropterin synthase activity</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1864095" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Reduced tissue carnitine-acylcarnitine translocase activity</a></span></li></ul></li><li><span class="TLline">Abnormality of the cardiovascular system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_13956" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Atrioventricular block</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_140901" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bradycardia</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_5456" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cardiac arrest</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_209232" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cardiomyopathy</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_5715" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypotension</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_56236" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Premature ventricular contraction</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_87400" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ventricular hypertrophy</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_12068" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ventricular tachycardia</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_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></ul></li><li><span class="TLline">Abnormality of the genitourinary system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_343550" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dicarboxylic aciduria</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_346841" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Generalized hypotonia</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10133" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypotonia</a></span></li><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_19775" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Rhabdomyolysis</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_1054" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Coma</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_397841" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Irritability</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_7310" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lethargy</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_20693" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Seizure</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_154664" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cardiorespiratory arrest</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="matched_ds"><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">Carnitine acylcarnitine translocase 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=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="TLclosed"><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"><a href="/medgen/75696" ref="tree=GTR&amp;ncbi_uid=75696&amp;link_uid=75696" title="View MedGen record for 'Multiple acyl-CoA dehydrogenase deficiency'">Multiple acyl-CoA dehydrogenase deficiency</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0342788[DISCUI]&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/1842227" ref="tree=MeSH" title="MedGen record for Disorder of carnitine cycle and carnitine transport">Disorder of carnitine cycle and carnitine transport</a></span><ul><li><span class="matched_ds">Carnitine acylcarnitine translocase deficiency</span></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&amp;data_id=156&amp;PatId=3343&amp;search=Disease_Classif_Simple&amp;new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Carnitine acylcarnitine translocase 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/33634872">New insights into carnitine-acylcarnitine translocase deficiency from 23 cases: Management challenges and potential therapeutic approaches.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ryder B,
Inbar-Feigenberg M,
Glamuzina E,
Halligan R,
Vara R,
Elliot A,
Coman D,
Minto T,
Lewis K,
Schiff M,
Vijay S,
Akroyd R,
Thompson S,
MacDonald A,
Woodward AJM,
Gribben JEL,
Grunewald S,
Belaramani K,
Hall M,
van der Haak N,
Devanapalli B,
Tolun AA,
Wilson C,
Bhattacharya K</span><br />
<span class="medgenPMjournal">J Inherit Metab Dis</span>
2021 Jul;44(4):903-915.
Epub 2021 Mar 29
doi: 10.1002/jimd.12371.
<span class="bold">PMID: </span><a href="/pubmed/33634872" target="_blank">33634872</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33085788">Tutorial: Triheptanoin and Nutrition Management for Treatment of Long-Chain Fatty Acid Oxidation Disorders.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Norris MK,
Scott AI,
Sullivan S,
Chang IJ,
Lam C,
Sun A,
Hahn S,
Thies JM,
Gunnarson M,
McKean KN,
Merritt JL 2nd</span><br />
<span class="medgenPMjournal">JPEN J Parenter Enteral Nutr</span>
2021 Feb;45(2):230-238.
Epub 2020 Nov 11
doi: 10.1002/jpen.2034.
<span class="bold">PMID: </span><a href="/pubmed/33085788" target="_blank">33085788</a></div>
<div class="nl"><a target="_blank" href="/pubmed/12559850">Mutational spectrum and DNA-based prenatal diagnosis in carnitine-acylcarnitine translocase deficiency.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Costa C,
Costa JM,
Slama A,
Boutron A,
Vequaud C,
Legrand A,
Brivet M</span><br />
<span class="medgenPMjournal">Mol Genet Metab</span>
2003 Jan;78(1):68-73.
doi: 10.1016/s1096-7192(02)00205-6.
<span class="bold">PMID: </span><a href="/pubmed/12559850" target="_blank">12559850</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22carnitine%20acylcarnitine%20translocase%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 (8)</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/Carnitine-Palmitoyltransferase-2-Deficiency-ACT-Sheet.pdf" target="_blank">American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Increased C16 and/or C18:1 Acylcarnitine, Carnitine Palmitoyltransferase II (CPT II) Deficiency and Carnitine Acylcarnitine Translocase (CACT) Deficiency, 2022</a></h3>
<h3 class="nl vspace"><a href="https://www.acmg.net/PDFLibrary/C16-C18-Elevated-Algorithm.pdf" target="_blank">American College of Medical Genetics and Genomics, Algorithm, C16 +/- C18:1 Elevated: CPT II or CACT, 2022</a></h3>
</div>
</div>
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
<div class="portlet mgSection" id="ID_103">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
<div class="nl"><a target="_blank" href="/pubmed/34626609">Novel mutations associated with carnitine-acylcarnitine translocase and carnitine palmitoyl transferase 2 deficiencies in Malaysia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Habib A,
Azize NAA,
Rahman SA,
Yakob Y,
Suberamaniam V,
Nazri MIBA,
Abdullah Sani H,
Ch'ng GS,
Yin LH,
Olpin S,
Lock-Hock N</span><br />
<span class="medgenPMjournal">Clin Biochem</span>
2021 Dec;98:48-53.
Epub 2021 Oct 7
doi: 10.1016/j.clinbiochem.2021.10.002.
<span class="bold">PMID: </span><a href="/pubmed/34626609" target="_blank">34626609</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33634872">New insights into carnitine-acylcarnitine translocase deficiency from 23 cases: Management challenges and potential therapeutic approaches.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ryder B,
Inbar-Feigenberg M,
Glamuzina E,
Halligan R,
Vara R,
Elliot A,
Coman D,
Minto T,
Lewis K,
Schiff M,
Vijay S,
Akroyd R,
Thompson S,
MacDonald A,
Woodward AJM,
Gribben JEL,
Grunewald S,
Belaramani K,
Hall M,
van der Haak N,
Devanapalli B,
Tolun AA,
Wilson C,
Bhattacharya K</span><br />
<span class="medgenPMjournal">J Inherit Metab Dis</span>
2021 Jul;44(4):903-915.
Epub 2021 Mar 29
doi: 10.1002/jimd.12371.
<span class="bold">PMID: </span><a href="/pubmed/33634872" target="_blank">33634872</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24992243">Inherited metabolic diseases in the Southern Chinese population: spectrum of diseases and estimated incidence from recurrent mutations.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hui J,
Tang NL,
Li CK,
Law LK,
To KF,
Yau P,
Fung SL,
Chong JS,
Tsung L,
Chiang G,
Fung E,
Cheung KL,
Yeung WL,
Fok TF</span><br />
<span class="medgenPMjournal">Pathology</span>
2014 Aug;46(5):375-82.
doi: 10.1097/PAT.0000000000000140.
<span class="bold">PMID: </span><a href="/pubmed/24992243" target="_blank">24992243</a></div>
<div class="nl"><a target="_blank" href="/pubmed/12559850">Mutational spectrum and DNA-based prenatal diagnosis in carnitine-acylcarnitine translocase deficiency.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Costa C,
Costa JM,
Slama A,
Boutron A,
Vequaud C,
Legrand A,
Brivet M</span><br />
<span class="medgenPMjournal">Mol Genet Metab</span>
2003 Jan;78(1):68-73.
doi: 10.1016/s1096-7192(02)00205-6.
<span class="bold">PMID: </span><a href="/pubmed/12559850" target="_blank">12559850</a></div>
<div class="nl"><a target="_blank" href="/pubmed/8739960">Retrospective diagnosis of carnitine-acylcarnitine translocase deficiency by acylcarnitine analysis in the proband Guthrie card and enzymatic studies in the parents.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Brivet M,
Slama A,
Millington DS,
Roe CR,
Demaugre F,
Legrand A,
Boutron A,
Poggi F,
Saudubray JM</span><br />
<span class="medgenPMjournal">J Inherit Metab Dis</span>
1996;19(2):181-4.
doi: 10.1007/BF01799424.
<span class="bold">PMID: </span><a href="/pubmed/8739960" target="_blank">8739960</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Carnitine%20acylcarnitine%20translocase%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 (9)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/15363639">Carnitine-acylcarnitine translocase deficiency, clinical, biochemical and genetic aspects.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Rubio-Gozalbo ME,
Bakker JA,
Waterham HR,
Wanders RJ</span><br />
<span class="medgenPMjournal">Mol Aspects Med</span>
2004 Oct-Dec;25(5-6):521-32.
doi: 10.1016/j.mam.2004.06.007.
<span class="bold">PMID: </span><a href="/pubmed/15363639" target="_blank">15363639</a></div>
<div class="nl"><a target="_blank" href="/pubmed/10408757">Carnitine-acylcarnitine translocase deficiency.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Pande SV</span><br />
<span class="medgenPMjournal">Am J Med Sci</span>
1999 Jul;318(1):22-7.
doi: 10.1097/00000441-199907000-00004.
<span class="bold">PMID: </span><a href="/pubmed/10408757" target="_blank">10408757</a></div>
<div class="nl"><a target="_blank" href="/pubmed/8739960">Retrospective diagnosis of carnitine-acylcarnitine translocase deficiency by acylcarnitine analysis in the proband Guthrie card and enzymatic studies in the parents.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Brivet M,
Slama A,
Millington DS,
Roe CR,
Demaugre F,
Legrand A,
Boutron A,
Poggi F,
Saudubray JM</span><br />
<span class="medgenPMjournal">J Inherit Metab Dis</span>
1996;19(2):181-4.
doi: 10.1007/BF01799424.
<span class="bold">PMID: </span><a href="/pubmed/8739960" target="_blank">8739960</a></div>
<div class="nl"><a target="_blank" href="/pubmed/7564255">A patient with lethal cardiomyopathy and a carnitine-acylcarnitine translocase deficiency.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Niezen-Koning KE,
van Spronsen FJ,
Ijlst L,
Wanders RJ,
Brivet M,
Duran M,
Reijngoud DJ,
Heymans HS,
Smit GP</span><br />
<span class="medgenPMjournal">J Inherit Metab Dis</span>
1995;18(2):230-2.
doi: 10.1007/BF00711775.
<span class="bold">PMID: </span><a href="/pubmed/7564255" target="_blank">7564255</a></div>
<div class="nl"><a target="_blank" href="/pubmed/7807931">Diagnosis of carnitine acylcarnitine translocase deficiency by complementation analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Brivet M,
Slama A,
Ogier H,
Boutron A,
Demaugre F,
Saudubray JM,
Lemonnier A</span><br />
<span class="medgenPMjournal">J Inherit Metab Dis</span>
1994;17(3):271-4.
doi: 10.1007/BF00711805.
<span class="bold">PMID: </span><a href="/pubmed/7807931" target="_blank">7807931</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Carnitine%20acylcarnitine%20translocase%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 (34)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/34626609">Novel mutations associated with carnitine-acylcarnitine translocase and carnitine palmitoyl transferase 2 deficiencies in Malaysia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Habib A,
Azize NAA,
Rahman SA,
Yakob Y,
Suberamaniam V,
Nazri MIBA,
Abdullah Sani H,
Ch'ng GS,
Yin LH,
Olpin S,
Lock-Hock N</span><br />
<span class="medgenPMjournal">Clin Biochem</span>
2021 Dec;98:48-53.
Epub 2021 Oct 7
doi: 10.1016/j.clinbiochem.2021.10.002.
<span class="bold">PMID: </span><a href="/pubmed/34626609" target="_blank">34626609</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33634872">New insights into carnitine-acylcarnitine translocase deficiency from 23 cases: Management challenges and potential therapeutic approaches.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ryder B,
Inbar-Feigenberg M,
Glamuzina E,
Halligan R,
Vara R,
Elliot A,
Coman D,
Minto T,
Lewis K,
Schiff M,
Vijay S,
Akroyd R,
Thompson S,
MacDonald A,
Woodward AJM,
Gribben JEL,
Grunewald S,
Belaramani K,
Hall M,
van der Haak N,
Devanapalli B,
Tolun AA,
Wilson C,
Bhattacharya K</span><br />
<span class="medgenPMjournal">J Inherit Metab Dis</span>
2021 Jul;44(4):903-915.
Epub 2021 Mar 29
doi: 10.1002/jimd.12371.
<span class="bold">PMID: </span><a href="/pubmed/33634872" target="_blank">33634872</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27931034">Historical Perspective on Clinical Trials of Carnitine in Children and Adults.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Buist NR</span><br />
<span class="medgenPMjournal">Ann Nutr Metab</span>
2016;68 Suppl 3:1-4.
Epub 2016 Dec 9
doi: 10.1159/000448320.
<span class="bold">PMID: </span><a href="/pubmed/27931034" target="_blank">27931034</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25459972">Carnitine-acylcarnitine translocase deficiency: Two neonatal cases with common splicing mutation and in vitro bezafibrate response.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Vatanavicharn N,
Yamada K,
Aoyama Y,
Fukao T,
Densupsoontorn N,
Jirapinyo P,
Sathienkijkanchai A,
Yamaguchi S,
Wasant P</span><br />
<span class="medgenPMjournal">Brain Dev</span>
2015 Aug;37(7):698-703.
Epub 2014 Nov 1
doi: 10.1016/j.braindev.2014.10.005.
<span class="bold">PMID: </span><a href="/pubmed/25459972" target="_blank">25459972</a></div>
<div class="nl"><a target="_blank" href="/pubmed/10384385">Carnitine-acylcarnitine translocase deficiency is a treatable disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">al Aqeel AI,
Rashed MS,
Wanders RJ</span><br />
<span class="medgenPMjournal">J Inherit Metab Dis</span>
1999 May;22(3):271-5.
doi: 10.1023/a:1005546408659.
<span class="bold">PMID: </span><a href="/pubmed/10384385" target="_blank">10384385</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Carnitine%20acylcarnitine%20translocase%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 (9)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/33634872">New insights into carnitine-acylcarnitine translocase deficiency from 23 cases: Management challenges and potential therapeutic approaches.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ryder B,
Inbar-Feigenberg M,
Glamuzina E,
Halligan R,
Vara R,
Elliot A,
Coman D,
Minto T,
Lewis K,
Schiff M,
Vijay S,
Akroyd R,
Thompson S,
MacDonald A,
Woodward AJM,
Gribben JEL,
Grunewald S,
Belaramani K,
Hall M,
van der Haak N,
Devanapalli B,
Tolun AA,
Wilson C,
Bhattacharya K</span><br />
<span class="medgenPMjournal">J Inherit Metab Dis</span>
2021 Jul;44(4):903-915.
Epub 2021 Mar 29
doi: 10.1002/jimd.12371.
<span class="bold">PMID: </span><a href="/pubmed/33634872" target="_blank">33634872</a></div>
<div class="nl"><a target="_blank" href="/pubmed/17578469">Pre-eclampsia in a woman whose child suffered from lethal carnitine-acylcarnitine translocase deficiency.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Geven WB,
Niezen-Koning KE,
Timmer A,
van Loon AJ,
Wanders RJ,
van Spronsen FJ</span><br />
<span class="medgenPMjournal">BJOG</span>
2007 Aug;114(8):1028-30.
Epub 2007 Jun 18
doi: 10.1111/j.1471-0528.2007.01411.x.
<span class="bold">PMID: </span><a href="/pubmed/17578469" target="_blank">17578469</a></div>
<div class="nl"><a target="_blank" href="/pubmed/9544911">A patient with carnitine-acylcarnitine translocase deficiency with a mild phenotype.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Morris AA,
Olpin SE,
Brivet M,
Turnbull DM,
Jones RA,
Leonard JV</span><br />
<span class="medgenPMjournal">J Pediatr</span>
1998 Mar;132(3 Pt 1):514-6.
doi: 10.1016/s0022-3476(98)70030-7.
<span class="bold">PMID: </span><a href="/pubmed/9544911" target="_blank">9544911</a></div>
<div class="nl"><a target="_blank" href="/pubmed/7564255">A patient with lethal cardiomyopathy and a carnitine-acylcarnitine translocase deficiency.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Niezen-Koning KE,
van Spronsen FJ,
Ijlst L,
Wanders RJ,
Brivet M,
Duran M,
Reijngoud DJ,
Heymans HS,
Smit GP</span><br />
<span class="medgenPMjournal">J Inherit Metab Dis</span>
1995;18(2):230-2.
doi: 10.1007/BF00711775.
<span class="bold">PMID: </span><a href="/pubmed/7564255" target="_blank">7564255</a></div>
<div class="nl"><a target="_blank" href="/pubmed/7807931">Diagnosis of carnitine acylcarnitine translocase deficiency by complementation analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Brivet M,
Slama A,
Ogier H,
Boutron A,
Demaugre F,
Saudubray JM,
Lemonnier A</span><br />
<span class="medgenPMjournal">J Inherit Metab Dis</span>
1994;17(3):271-4.
doi: 10.1007/BF00711805.
<span class="bold">PMID: </span><a href="/pubmed/7807931" target="_blank">7807931</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Carnitine%20acylcarnitine%20translocase%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 (30)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/39732347">Loss-of-function SLC25A20 variant causes carnitine-acylcarnitine translocase deficiency by reducing SLC25A20 protein stability.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gan Z,
Wei X,
Zheng Y,
Zheng Q,
Fan S,
Xiong F</span><br />
<span class="medgenPMjournal">Gene</span>
2025 Mar 10;940:149201.
Epub 2024 Dec 26
doi: 10.1016/j.gene.2024.149201.
<span class="bold">PMID: </span><a href="/pubmed/39732347" target="_blank">39732347</a></div>
<div class="nl"><a target="_blank" href="/pubmed/38490313">Sudden death with cardiac involvement in a neonate with carnitine-acylcarnitine translocase deficiency.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Jing J,
Zhang C,
Du S,
Tan X,
Yue X,
Qiao D</span><br />
<span class="medgenPMjournal">Cardiovasc Pathol</span>
2024 May-Jun;70:107630.
Epub 2024 Mar 14
doi: 10.1016/j.carpath.2024.107630.
<span class="bold">PMID: </span><a href="/pubmed/38490313" target="_blank">38490313</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36835358">In Silico Analysis of the Structural Dynamics and Substrate Recognition Determinants of the Human Mitochondrial Carnitine/Acylcarnitine SLC25A20 Transporter.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Pasquadibisceglie A,
Quadrotta V,
Polticelli F</span><br />
<span class="medgenPMjournal">Int J Mol Sci</span>
2023 Feb 15;24(4)
doi: 10.3390/ijms24043946.
<span class="bold">PMID: </span><a href="/pubmed/36835358" target="_blank">36835358</a><a href="/pmc/articles/PMC9961348" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31108048">Clinical and molecular characteristics of carnitine-acylcarnitine translocase deficiency: Experience with six patients in Guangdong China.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tang C,
Liu S,
Wu M,
Lin S,
Lin Y,
Su L,
Zhang J,
Feng Y,
Huang Y</span><br />
<span class="medgenPMjournal">Clin Chim Acta</span>
2019 Aug;495:476-480.
Epub 2019 May 17
doi: 10.1016/j.cca.2019.05.018.
<span class="bold">PMID: </span><a href="/pubmed/31108048" target="_blank">31108048</a></div>
<div class="nl"><a target="_blank" href="/pubmed/15363639">Carnitine-acylcarnitine translocase deficiency, clinical, biochemical and genetic aspects.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Rubio-Gozalbo ME,
Bakker JA,
Waterham HR,
Wanders RJ</span><br />
<span class="medgenPMjournal">Mol Aspects Med</span>
2004 Oct-Dec;25(5-6):521-32.
doi: 10.1016/j.mam.2004.06.007.
<span class="bold">PMID: </span><a href="/pubmed/15363639" target="_blank">15363639</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Carnitine%20acylcarnitine%20translocase%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 (11)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0342791%5bDISCUI%5d&amp;filter=method%3A1%5F1" target="_blank">Analyte (7)</a></li>
<li><a href="/gtr/tests?term=C0342791%5bDISCUI%5d&amp;filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (47)</a></li>
<li><a href="/gtr/tests?term=C0342791%5bDISCUI%5d&amp;filter=method%3A1%5F2" target="_blank">Enzyme assay (1)</a></li>
<li><a href="/gtr/tests?term=C0342791%5bDISCUI%5d&amp;filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (3)</a></li>
<li><a href="/gtr/tests?term=C0342791%5bDISCUI%5d&amp;filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (2)</a></li>
<li><a href="/gtr/tests?term=C0342791%5bDISCUI%5d&amp;filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (64)</a></li>
<li><a href="/gtr/tests?term=C0342791%5bDISCUI%5d&amp;filter=method%3A2%5F19" target="_blank">Targeted variant analysis (15)</a></li>
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