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<meta name="keywords" content="C5848230, carnitine deficiency, decreased circulating carnitine concentration, decreased plasma carnitine, finding, 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="Concentration of carnitine in the blood circulation below the lower limit of normal." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Decreased circulating carnitine concentration (Concept Id: C5848230)
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<!--
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Decreased circulating carnitine concentration</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1850526</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information."><span class="highlight" style="background-color:">C5848230</span></a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
<td>Decreased plasma carnitine</td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0003234">HP:0003234</a></td></tr>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln">Concentration of carnitine in the blood circulation below the lower limit of normal. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test,  </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test,  </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM,  </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>,  </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar  </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5848230[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=1850526">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 Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=1850526" ref="ncbi_uid=1850526">V</a></span></span><span class="TLline">Decreased circulating carnitine concentration</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1701080" ref="tree=MeSH" title="MedGen record for Abnormal circulating metabolite concentration">Abnormal circulating metabolite concentration</a></span><ul><li><span class="TLline"><a href="/medgen/1864085" ref="tree=MeSH" title="MedGen record for Abnormal circulating organic compound concentration">Abnormal circulating organic compound concentration</a></span><ul><li><span class="TLline"><a href="/medgen/1684666" ref="tree=MeSH" title="MedGen record for Abnormal circulating carboxylic acid concentration">Abnormal circulating carboxylic acid concentration</a></span><ul><li><span class="TLline"><a href="/medgen/1815045" ref="tree=MeSH" title="MedGen record for Abnormal circulating monocarboxylic acid concentration">Abnormal circulating monocarboxylic acid concentration</a></span><ul><li><span class="TLline"><a href="/medgen/866854" ref="tree=MeSH" title="MedGen record for Abnormal circulating fatty-acid anion concentration">Abnormal circulating fatty-acid anion concentration</a></span><ul><li><span class="TLline"><a href="/medgen/1684845" ref="tree=MeSH" title="MedGen record for Abnormal circulating carnitine concentration">Abnormal circulating carnitine concentration</a></span><ul><li><span class="matched_ds">Decreased circulating carnitine concentration</span><ul><li><span class="TLline"><a href="/medgen/863446" ref="tree=MeSH" title="MedGen record for Decreased plasma free carnitine">Decreased plasma free carnitine</a></span></li><li><span class="TLline"><a href="/medgen/868714" ref="tree=MeSH" title="MedGen record for Decreased plasma total carnitine">Decreased plasma total carnitine</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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<div class="portlet mgSection" id="ID_112">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln clinfeat">
<div class="divPopper rprt" id="rdis_65086"><div><strong>Medium-chain acyl-coenzyme A dehydrogenase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65086</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.">C0220710</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Individuals with medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency typically appear normal at birth, and many are diagnosed through newborn screening programs. Symptomatic individuals experience hypoketotic hypoglycemia in response to either prolonged fasting (e.g., weaning the infant from nighttime feedings) or during intercurrent and common infections (e.g., viral gastrointestinal or upper respiratory tract infections), which typically cause loss of appetite and increased energy requirements when fever is present. Untreated severe hypoglycemic episodes can be accompanied by seizures, vomiting, lethargy, coma, and death. Metabolic decompensation during these episodes can result in elevated liver transaminases and hyperammonemia. Individuals with MCAD deficiency who have experienced the effects of uncontrolled metabolic decompensation are also at risk for chronic myopathy. Early identification and avoidance of prolonged fasting can ameliorate these findings. However, children with MCAD deficiency are at risk for obesity after initiation of treatment due to the frequency of feeding.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/65086">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_78692"><div><strong>Deficiency of hydroxymethylglutaryl-CoA lyase</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78692</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.">C0268601</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">3-Hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) is a rare autosomal recessive disorder with the cardinal manifestations of metabolic acidosis without ketonuria, hypoglycemia, and a characteristic pattern of elevated urinary organic acid metabolites, including 3-hydroxy-3-methylglutaric, 3-methylglutaric, and 3-hydroxyisovaleric acids. Urinary levels of 3-methylcrotonylglycine may be increased. Dicarboxylic aciduria, hepatomegaly, and hyperammonemia may also be observed. Presenting clinical signs include irritability, lethargy, coma, and vomiting (summary by Gibson et al., 1988).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/78692">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_90999"><div><strong>Renal carnitine transport defect</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>90999</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.">C0342788</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Primary carnitine deficiency (PCD) is a disorder of the carnitine cycle that results in defective fatty acid oxidation. If untreated, it encompasses a broad clinical spectrum including: (1) metabolic decompensation in infancy typically presenting between age three months and two years with episodes of hypoketotic hypoglycemia, poor feeding, irritability, lethargy, hepatomegaly, elevated liver transaminases, and hyperammonemia triggered by fasting or common illnesses such as upper respiratory tract infection or gastroenteritis; (2) childhood myopathy involving heart and skeletal muscle with onset between age two and four years; (3) pregnancy-related decreased stamina or exacerbation of cardiac arrhythmia; (4) fatigability in adulthood; and (5) absence of symptoms. The latter two categories often include mothers diagnosed with PCD after newborn screening has identified low carnitine levels in their infants.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/90999">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_347852"><div><strong>Carnitine deficiency, myopathic</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347852</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.">C1859318</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/347852">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_347898"><div><strong>3-methylcrotonyl-CoA carboxylase 2 deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347898</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.">C1859499</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">3-Methylcrotonylglycinuria is an autosomal recessive disorder of leucine catabolism. The clinical phenotype is highly variable, ranging from neonatal onset with severe neurologic involvement to asymptomatic adults. There is a characteristic organic aciduria with massive excretion of 3-hydroxyisovaleric acid and 3-methylcrotonylglycine, usually in combination with a severe secondary carnitine deficiency. MCC activity in extracts of cultured fibroblasts of patients is usually less than 2% of control (summary by Baumgartner et al., 2001).&#13; Also see 3-methylcrotonylglycinuria I (MCC1D; 210200), caused by mutation in the alpha subunit of 3-methylcrotonyl-CoA carboxylase (MCCC1; 609010).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/347898">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_370754"><div><strong>Deficiency of isobutyryl-CoA dehydrogenase</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>370754</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.">C1969809</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Isobutyryl-CoA dehydrogenase (IBD) deficiency is a condition that disrupts the breakdown of certain proteins. Normally, proteins from food are broken down into parts called amino acids. Amino acids can be further processed to provide energy for growth and development. People with IBD deficiency have inadequate levels of an enzyme that helps break down a particular amino acid called valine.\n\nMost people with IBD deficiency are asymptomatic, which means they do not have any signs or symptoms of the condition. A few children with IBD deficiency have developed features such as a weakened and enlarged heart (dilated cardiomyopathy), weak muscle tone (hypotonia), and developmental delay. This condition may also cause low numbers of red blood cells (anemia) and very low blood levels of carnitine, which is a natural substance that helps convert certain foods into energy. The range of signs and symptoms associated with IBD deficiency remains unclear because very few affected individuals have been reported.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/370754">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_419735"><div><strong>Nephropathic cystinosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>419735</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.">C2931187</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Cystinosis comprises three allelic phenotypes: Nephropathic cystinosis in untreated children is characterized by renal Fanconi syndrome, poor growth, hypophosphatemic/calcipenic rickets, impaired glomerular function resulting in complete glomerular failure, and accumulation of cystine in almost all cells, leading to cellular dysfunction with tissue and organ impairment. The typical untreated child has short stature, rickets, and photophobia. Failure to thrive is generally noticed after approximately age six months; signs of renal tubular Fanconi syndrome (polyuria, polydipsia, dehydration, and acidosis) appear as early as age six months; corneal crystals can be present before age one year and are always present after age 16 months. Prior to the use of renal transplantation and cystine-depleting therapy, the life span in nephropathic cystinosis was no longer than ten years. With these interventions, affected individuals can survive at least into the mid-forties or fifties with satisfactory quality of life. Intermediate cystinosis is characterized by all the typical manifestations of nephropathic cystinosis, but onset is at a later age. Renal glomerular failure occurs in all untreated affected individuals, usually between ages 15 and 25 years. The non-nephropathic (ocular) form of cystinosis is characterized clinically only by photophobia resulting from corneal cystine crystal accumulation.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/419735">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_463248"><div><strong>Mitochondrial myopathy with reversible cytochrome C oxidase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>463248</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.">C3151898</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Infantile mitochondrial myopathy due to reversible COX deficiency is a rare mitochondrial disorder characterized by onset in infancy of severe hypotonia and generalized muscle weakness associated with lactic acidosis, but is distinguished from other mitochondrial disorders in that affected individuals recover spontaneously after 1 year of age (summary by Mimaki et al., 2010).&#13; See also transient infantile liver failure (LFIT; 613070), which is a similar disorder.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/463248">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_854382"><div><strong>Very long chain acyl-CoA dehydrogenase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>854382</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C3887523</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Deficiency of very long-chain acyl-coenzyme A dehydrogenase (VLCAD), which catalyzes the initial step of mitochondrial beta-oxidation of long-chain fatty acids with a chain length of 14 to 20 carbons, is associated with three phenotypes. The severe early-onset cardiac and multiorgan failure form typically presents in the first months of life with hypertrophic or dilated cardiomyopathy, pericardial effusion, and arrhythmias, as well as hypotonia, hepatomegaly, and intermittent hypoglycemia. The hepatic or hypoketotic hypoglycemic form typically presents during early childhood with hypoketotic hypoglycemia and hepatomegaly, but without cardiomyopathy. The later-onset episodic myopathic form presents with intermittent rhabdomyolysis provoked by exercise, muscle cramps and/or pain, and/or exercise intolerance. Hypoglycemia typically is not present at the time of symptoms.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/854382">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1648370"><div><strong>Mitochondrial complex 1 deficiency, nuclear type 13</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648370</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.">C4748770</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1648370">Condition Record</a></div></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_347898" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">3-methylcrotonyl-CoA carboxylase 2 deficiency</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_347852" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Carnitine deficiency, myopathic</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_78692" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Deficiency of hydroxymethylglutaryl-CoA lyase</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_370754" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Deficiency of isobutyryl-CoA dehydrogenase</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_65086" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Medium-chain acyl-coenzyme A dehydrogenase deficiency</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (10)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648370" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial complex 1 deficiency, nuclear type 13</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_463248" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial myopathy with reversible cytochrome C oxidase deficiency</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_419735" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nephropathic cystinosis</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_90999" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Renal carnitine transport defect</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_854382" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Very long chain acyl-CoA dehydrogenase deficiency</a></div></span></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">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-Uptake-Defect-ACT-Sheet.pdf" target="_blank">American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Decreased C0, Carnitine Uptake Defect (CUD; Primary Carnitine Deficiency), 2022</a></h3>
<h3 class="nl vspace"><a href="https://www.acmg.net/PDFLibrary/C0-Algorithm.pdf" target="_blank">American College of Medical Genetics and Genomics, Algorithm, Carnitine Uptake Defect: Decreased C0 (Free Carnitine), 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/38625914">Association of Acylcarnitines With Maternal Cardiometabolic Risk Factors Is Defined by Chain Length: The S-PRESTO Study.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Chen L,
Goh XP,
Bendt AK,
Tan KM,
Leow MK,
Tan KH,
Chan JKY,
Chan SY,
Chong YS,
Gluckman PD,
Eriksson JG,
Wenk MR,
Mir SA</span><br />
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
2024 Oct 15;109(11):2831-2846.
doi: 10.1210/clinem/dgae255.
<span class="bold">PMID: </span><a href="/pubmed/38625914" target="_blank">38625914</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34989648">Circulating long-chain acylcarnitine concentrations are not affected by exercise training in pregnant women with obesity.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Allman BR,
Spray BJ,
Lan RS,
Andres A,
Børsheim E</span><br />
<span class="medgenPMjournal">J Appl Physiol (1985)</span>
2022 Feb 1;132(2):470-476.
Epub 2022 Jan 6
doi: 10.1152/japplphysiol.00712.2021.
<span class="bold">PMID: </span><a href="/pubmed/34989648" target="_blank">34989648</a><a href="/pmc/articles/PMC8816616" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28791846">Serum carnitine and acyl-carnitine in patients with meningitis due to tick-borne encephalitis virus infection.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kępka A,
Janas RM,
Pancewicz SA,
Świerzbińska R</span><br />
<span class="medgenPMjournal">Adv Clin Exp Med</span>
2017 Mar-Apr;26(2):277-280.
doi: 10.17219/acem/63006.
<span class="bold">PMID: </span><a href="/pubmed/28791846" target="_blank">28791846</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28507011">Influence of Diet in Multiple Sclerosis: A Systematic Review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bagur MJ,
Murcia MA,
Jiménez-Monreal AM,
Tur JA,
Bibiloni MM,
Alonso GL,
Martínez-Tomé M</span><br />
<span class="medgenPMjournal">Adv Nutr</span>
2017 May;8(3):463-472.
Epub 2017 May 15
doi: 10.3945/an.116.014191.
<span class="bold">PMID: </span><a href="/pubmed/28507011" target="_blank">28507011</a><a href="/pmc/articles/PMC5421121" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/14624946">"Brain-specific" nutrients: a memory cure?</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">McDaniel MA,
Maier SF,
Einstein GO</span><br />
<span class="medgenPMjournal">Nutrition</span>
2003 Nov-Dec;19(11-12):957-75.
doi: 10.1016/s0899-9007(03)00024-8.
<span class="bold">PMID: </span><a href="/pubmed/14624946" target="_blank">14624946</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Decreased%20circulating%20carnitine%20concentration%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 (18)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/35864499">Circulating amino acids and acylcarnitines correlated with different CAC score ranges in diabetic postmenopausal women using LC-MS/MS based metabolomics approach.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hosseinkhani S,
Salari P,
Bandarian F,
Asadi M,
Shirani S,
Najjar N,
Dehghanbanadaki H,
Pasalar P,
Razi F</span><br />
<span class="medgenPMjournal">BMC Endocr Disord</span>
2022 Jul 21;22(1):186.
doi: 10.1186/s12902-022-01073-9.
<span class="bold">PMID: </span><a href="/pubmed/35864499" target="_blank">35864499</a><a href="/pmc/articles/PMC9306187" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32928639">Effects of fasting, feeding and exercise on plasma acylcarnitines among subjects with CPT2D, VLCADD and LCHADD/TFPD.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Elizondo G,
Matern D,
Vockley J,
Harding CO,
Gillingham MB</span><br />
<span class="medgenPMjournal">Mol Genet Metab</span>
2020 Sep-Oct;131(1-2):90-97.
Epub 2020 Sep 6
doi: 10.1016/j.ymgme.2020.09.001.
<span class="bold">PMID: </span><a href="/pubmed/32928639" target="_blank">32928639</a><a href="/pmc/articles/PMC8048763" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28791846">Serum carnitine and acyl-carnitine in patients with meningitis due to tick-borne encephalitis virus infection.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kępka A,
Janas RM,
Pancewicz SA,
Świerzbińska R</span><br />
<span class="medgenPMjournal">Adv Clin Exp Med</span>
2017 Mar-Apr;26(2):277-280.
doi: 10.17219/acem/63006.
<span class="bold">PMID: </span><a href="/pubmed/28791846" target="_blank">28791846</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27624997">Palmitoyl-carnitine production by blood cells associates with the concentration of circulating acyl-carnitines in healthy overweight women.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Chondronikola M,
Asghar R,
Zhang X,
Dillon EL,
Durham WJ,
Wu Z,
Porter C,
Camacho-Hughes M,
Zhao Y,
Brasier AR,
Volpi E,
Sheffield-Moore M,
Abate N,
Sidossis L,
Tuvdendorj D</span><br />
<span class="medgenPMjournal">Clin Nutr</span>
2017 Oct;36(5):1310-1319.
Epub 2016 Sep 6
doi: 10.1016/j.clnu.2016.08.019.
<span class="bold">PMID: </span><a href="/pubmed/27624997" target="_blank">27624997</a><a href="/pmc/articles/PMC5339072" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/15479216">Effects of dietary fatty acids on insulin sensitivity and secretion.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Manco M,
Calvani M,
Mingrone G</span><br />
<span class="medgenPMjournal">Diabetes Obes Metab</span>
2004 Nov;6(6):402-13.
doi: 10.1111/j.1462-8902.2004.00356.x.
<span class="bold">PMID: </span><a href="/pubmed/15479216" target="_blank">15479216</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Decreased%20circulating%20carnitine%20concentration%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 (8)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/34989648">Circulating long-chain acylcarnitine concentrations are not affected by exercise training in pregnant women with obesity.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Allman BR,
Spray BJ,
Lan RS,
Andres A,
Børsheim E</span><br />
<span class="medgenPMjournal">J Appl Physiol (1985)</span>
2022 Feb 1;132(2):470-476.
Epub 2022 Jan 6
doi: 10.1152/japplphysiol.00712.2021.
<span class="bold">PMID: </span><a href="/pubmed/34989648" target="_blank">34989648</a><a href="/pmc/articles/PMC8816616" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34047916">Acetyl-L-Carnitine Ameliorates Metabolic and Endocrine Alterations in Women with PCOS: A Double-Blind Randomized Clinical Trial.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tauqir S,
Israr M,
Rauf B,
Malik MO,
Habib SH,
Shah FA,
Usman M,
Raza MA,
Shah I,
Badshah H,
Ehtesham E,
Shah M</span><br />
<span class="medgenPMjournal">Adv Ther</span>
2021 Jul;38(7):3842-3856.
Epub 2021 May 28
doi: 10.1007/s12325-021-01789-5.
<span class="bold">PMID: </span><a href="/pubmed/34047916" target="_blank">34047916</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28507011">Influence of Diet in Multiple Sclerosis: A Systematic Review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bagur MJ,
Murcia MA,
Jiménez-Monreal AM,
Tur JA,
Bibiloni MM,
Alonso GL,
Martínez-Tomé M</span><br />
<span class="medgenPMjournal">Adv Nutr</span>
2017 May;8(3):463-472.
Epub 2017 May 15
doi: 10.3945/an.116.014191.
<span class="bold">PMID: </span><a href="/pubmed/28507011" target="_blank">28507011</a><a href="/pmc/articles/PMC5421121" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/15591001">Kinetics, pharmacokinetics, and regulation of L-carnitine and acetyl-L-carnitine metabolism.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Rebouche CJ</span><br />
<span class="medgenPMjournal">Ann N Y Acad Sci</span>
2004 Nov;1033:30-41.
doi: 10.1196/annals.1320.003.
<span class="bold">PMID: </span><a href="/pubmed/15591001" target="_blank">15591001</a></div>
<div class="nl"><a target="_blank" href="/pubmed/14624946">"Brain-specific" nutrients: a memory cure?</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">McDaniel MA,
Maier SF,
Einstein GO</span><br />
<span class="medgenPMjournal">Nutrition</span>
2003 Nov-Dec;19(11-12):957-75.
doi: 10.1016/s0899-9007(03)00024-8.
<span class="bold">PMID: </span><a href="/pubmed/14624946" target="_blank">14624946</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Decreased%20circulating%20carnitine%20concentration%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 (14)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/34611047">Trimethylamine oxide: a potential target for heart failure therapy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lv S,
Wang Y,
Zhang W,
Shang H</span><br />
<span class="medgenPMjournal">Heart</span>
2022 May 25;108(12):917-922.
doi: 10.1136/heartjnl-2021-320054.
<span class="bold">PMID: </span><a href="/pubmed/34611047" target="_blank">34611047</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32879261">Decreases in Circulating Concentrations of Short-Chain Acylcarnitines are Associated with Systolic Function Improvement After Decompensated Heart Failure.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Chen WS,
Liu MH,
Cheng ML,
Wang CH</span><br />
<span class="medgenPMjournal">Int Heart J</span>
2020 Sep 29;61(5):1014-1021.
Epub 2020 Sep 2
doi: 10.1536/ihj.20-053.
<span class="bold">PMID: </span><a href="/pubmed/32879261" target="_blank">32879261</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24898617">Stilbenes and resveratrol metabolites improve mitochondrial fatty acid oxidation defects in human fibroblasts.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Aires V,
Delmas D,
Le Bachelier C,
Latruffe N,
Schlemmer D,
Benoist JF,
Djouadi F,
Bastin J</span><br />
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
2014 Jun 5;9:79.
doi: 10.1186/1750-1172-9-79.
<span class="bold">PMID: </span><a href="/pubmed/24898617" target="_blank">24898617</a><a href="/pmc/articles/PMC4051957" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/22684763">Effect of hemodialysis session on the dynamics of carnitine ester profile changes in L-carnitine pretreated end-stage renal disease patients.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Csiky B,
Bene J,
Wittmann I,
Sulyok E,
Melegh B</span><br />
<span class="medgenPMjournal">Int Urol Nephrol</span>
2013 Jun;45(3):847-55.
Epub 2012 Jun 10
doi: 10.1007/s11255-012-0209-x.
<span class="bold">PMID: </span><a href="/pubmed/22684763" target="_blank">22684763</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Decreased%20circulating%20carnitine%20concentration%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 (4)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/38558806">Integrated plasma metabolomic and cytokine analysis reveals a distinct immunometabolic signature in atopic dermatitis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ma EZ,
Deng J,
Parthasarathy V,
Lee KK,
Pritchard T,
Guo S,
Zhang C,
Kwatra MM,
Le A,
Kwatra SG</span><br />
<span class="medgenPMjournal">Front Immunol</span>
2024;15:1354128.
Epub 2024 Mar 15
doi: 10.3389/fimmu.2024.1354128.
<span class="bold">PMID: </span><a href="/pubmed/38558806" target="_blank">38558806</a><a href="/pmc/articles/PMC10978712" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35864499">Circulating amino acids and acylcarnitines correlated with different CAC score ranges in diabetic postmenopausal women using LC-MS/MS based metabolomics approach.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hosseinkhani S,
Salari P,
Bandarian F,
Asadi M,
Shirani S,
Najjar N,
Dehghanbanadaki H,
Pasalar P,
Razi F</span><br />
<span class="medgenPMjournal">BMC Endocr Disord</span>
2022 Jul 21;22(1):186.
doi: 10.1186/s12902-022-01073-9.
<span class="bold">PMID: </span><a href="/pubmed/35864499" target="_blank">35864499</a><a href="/pmc/articles/PMC9306187" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34047916">Acetyl-L-Carnitine Ameliorates Metabolic and Endocrine Alterations in Women with PCOS: A Double-Blind Randomized Clinical Trial.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tauqir S,
Israr M,
Rauf B,
Malik MO,
Habib SH,
Shah FA,
Usman M,
Raza MA,
Shah I,
Badshah H,
Ehtesham E,
Shah M</span><br />
<span class="medgenPMjournal">Adv Ther</span>
2021 Jul;38(7):3842-3856.
Epub 2021 May 28
doi: 10.1007/s12325-021-01789-5.
<span class="bold">PMID: </span><a href="/pubmed/34047916" target="_blank">34047916</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28507011">Influence of Diet in Multiple Sclerosis: A Systematic Review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bagur MJ,
Murcia MA,
Jiménez-Monreal AM,
Tur JA,
Bibiloni MM,
Alonso GL,
Martínez-Tomé M</span><br />
<span class="medgenPMjournal">Adv Nutr</span>
2017 May;8(3):463-472.
Epub 2017 May 15
doi: 10.3945/an.116.014191.
<span class="bold">PMID: </span><a href="/pubmed/28507011" target="_blank">28507011</a><a href="/pmc/articles/PMC5421121" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/8891866">Fatty acid oxidation in the heart.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Grynberg A,
Demaison L</span><br />
<span class="medgenPMjournal">J Cardiovasc Pharmacol</span>
1996;28 Suppl 1:S11-7.
doi: 10.1097/00005344-199600003-00003.
<span class="bold">PMID: </span><a href="/pubmed/8891866" target="_blank">8891866</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Decreased%20circulating%20carnitine%20concentration%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 (10)</a></div></div>
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<div class="nl"><a target="_blank" href="/pubmed/28507011">Influence of Diet in Multiple Sclerosis: A Systematic Review.</a></div>
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Murcia MA,
Jiménez-Monreal AM,
Tur JA,
Bibiloni MM,
Alonso GL,
Martínez-Tomé M</span><br />
<span class="medgenPMjournal">Adv Nutr</span>
2017 May;8(3):463-472.
Epub 2017 May 15
doi: 10.3945/an.116.014191.
<span class="bold">PMID: </span><a href="/pubmed/28507011" target="_blank">28507011</a><a href="/pmc/articles/PMC5421121" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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