Acyl-coa dehydrogenase, very long-chain, deficiency of - CISMeF
Acyl-coa dehydrogenase, very long-chain, deficiency ofOMIM Phenotype
Preferred Label : Acyl-coa dehydrogenase, very long-chain, deficiency of;
Symbol : ACADVLD;
CISMeF acronym : ACADVLD;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Vlcad deficiency;
Description : Inborn errors of mitochondrial fatty acid beta-oxidation include medium-chain acyl-CoA
dehydrogenase deficiency (201450), short-chain acyl-CoA dehydrogenase deficiency (201470),
and very long-chain acyl-CoA dehydrogenase deficiency.;
Inheritance : Autosomal recessive;
Molecular basis : Caused by mutation in the very long-chain acyl-CoA dehydrogenase gene (ACAVLD, 609575.0001);
Laboratory abnormalities : Dicarboxylic aciduria; Decreased plasma carnitine; Decreased very long-chain acyl-CoA dehydrogenase protein and activity; Exercise-induced myoglobinuria in adults; Increased serum creatine kinase in patients with muscle involvement;