" /> Acyl-coa dehydrogenase, very long-chain, deficiency of - CISMeF





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;

Prefixed ID : #201475;

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29/07/2025


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