Gene: ACADVL

Alternate names for this Gene: ACAD6|LCACD|VLCAD

Gene Summary: The protein encoded by this gene is targeted to the inner mitochondrial membrane where it catalyzes the first step of the mitochondrial fatty acid beta-oxidation pathway. This acyl-Coenzyme A dehydrogenase is specific to long-chain and very-long-chain fatty acids. A deficiency in this gene product reduces myocardial fatty acid beta-oxidation and is associated with cardiomyopathy. Alternative splicing results in multiple transcript variants encoding different isoforms.

Gene is located in Chromosome: 17

Location in Chromosome : 17p13.1

Description of this Gene: acyl-CoA dehydrogenase very long chain

Type of Gene: protein-coding

rs113994167 in ACADVL gene and Pearson's marrow-pancreas syndrome PMID 21932095 2012 VLCAD enzyme activity determinations in newborns identified by screening: a valuable tool for risk assessment.

PMID 17374501 2007 Expression and characterization of mutations in human very long-chain acyl-CoA dehydrogenase using a prokaryotic system.

PMID 20107901 2010 Genotype-phenotype correlations: sudden death in an infant with very-long-chain acyl-CoA dehydrogenase deficiency.

PMID 8845838 1996 Cloning and characterization of human very-long-chain acyl-CoA dehydrogenase cDNA, chromosomal assignment of the gene and identification in four patients of nine different mutations within the VLCAD gene.

PMID 23480858 2013 Molecular and cellular pathology of very-long-chain acyl-CoA dehydrogenase deficiency.

rs1057516843 in ACADVL gene and Very long chain acyl-CoA dehydrogenase deficiency PMID 25242572 2014 Combination of postmortem mass spectrometry imaging and genetic analysis reveals very long-chain acyl-CoA dehydrogenase deficiency in a case of infant death with liver steatosis.

PMID 24503138 2014 Infants suspected to have very-long chain acyl-CoA dehydrogenase deficiency from newborn screening.

PMID 8845838 1996 Cloning and characterization of human very-long-chain acyl-CoA dehydrogenase cDNA, chromosomal assignment of the gene and identification in four patients of nine different mutations within the VLCAD gene.

PMID 26937394 2015 Rhabdomyolysis in a neonate due to very long chain acyl CoA dehydrogenase deficiency.

PMID 9973285 1999 Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency.

PMID 21932095 2012 VLCAD enzyme activity determinations in newborns identified by screening: a valuable tool for risk assessment.

PMID 17999356 2007 Genetic basis for correction of very-long-chain acyl-coenzyme A dehydrogenase deficiency by bezafibrate in patient fibroblasts: toward a genotype-based therapy.

PMID 23480858 2013 Molecular and cellular pathology of very-long-chain acyl-CoA dehydrogenase deficiency.

PMID 21429517 2011 Positive newborn screen in a normal infant of a mother with asymptomatic very long-chain Acyl-CoA dehydrogenase deficiency.

PMID 19208414 2009 Atypical presentation of VLCAD deficiency associated with a novel ACADVL splicing mutation.

PMID 14517516 2003 MS/MS-based newborn and family screening detects asymptomatic patients with very-long-chain acyl-CoA dehydrogenase deficiency.

PMID 17374501 2007 Expression and characterization of mutations in human very long-chain acyl-CoA dehydrogenase using a prokaryotic system.

PMID 26385305 2015 Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States.

PMID 20107901 2010 Genotype-phenotype correlations: sudden death in an infant with very-long-chain acyl-CoA dehydrogenase deficiency.

PMID 20060901 2010 Compared effects of missense mutations in Very-Long-Chain Acyl-CoA Dehydrogenase deficiency: Combined analysis by structural, functional and pharmacological approaches.

PMID 25087612 2014 Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results.

PMID 20480395 2010 High-resolution melting analysis, a simple and effective method for reliable mutation scanning and frequency studies in the ACADVL gene.

PMID 19327992 2009 Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency.

PMID 10077518 1999 Molecular heterogeneity in very-long-chain acyl-CoA dehydrogenase deficiency causing pediatric cardiomyopathy and sudden death.

PMID 16950999 2006 Neonatal screening for very long-chain acyl-coA dehydrogenase deficiency: enzymatic and molecular evaluation of neonates with elevated C14:1-carnitine levels.

PMID 27209629 2016 Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database.

PMID 27246109 2016 VLCAD deficiency: Follow-up and outcome of patients diagnosed through newborn screening in Victoria.

PMID 23798014 2013 Neuropsychological outcomes in fatty acid oxidation disorders: 85 cases detected by newborn screening.

PMID 8554073 1996 Mutation analysis of very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency: identification and characterization of mutant VLCAD cDNAs from four patients.

PMID 16488171 2006 VLCAD deficiency: pitfalls in newborn screening and confirmation of diagnosis by mutation analysis.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 10738914 2000 Clinical and molecular heterogeneity in very-long-chain acyl-coenzyme A dehydrogenase deficiency.

PMID 24801231 2014 Clinical features and mutations in seven Chinese patients with very long chain acyl-CoA dehydrogenase deficiency.

PMID 12122118 2002 Treatment of cardiomyopathy and rhabdomyolysis in long-chain fat oxidation disorders using an anaplerotic odd-chain triglyceride.

PMID 27995075 2017 Cardiac failure in very long chain acyl-CoA dehydrogenase deficiency requiring extracorporeal membrane oxygenation (ECMO) treatment: A case report and review of the literature.