ACADVL

ACADVL or Very Long-Chain Acyl-CoA Dehydrogenase is an enzyme that in humans is encoded by the ACADVL gene. This enzyme is a member of the Acyl-CoA dehydrogenase family of enzymes that catalyze the dehydrogenation of acyl-CoA derivatives in the metabolism of fatty acids or branch chained amino acids.

Function

The ACADVL enzyme is a catalyst in the initial step of the mitochondrial fatty acid beta-oxidation pathway. This pathway is the major source of energy for the heart and skeletal muscle. The ACADVL enzyme is specifically involved in the breakdown of very long-chain fatty acids, typically between 14 and 20 carbons long.

Clinical Significance

Deficiency of this enzyme is associated with a variety of clinical presentations, including cardiomyopathy, muscle weakness, and hypoglycemia. These symptoms are indicative of Very long-chain acyl-coenzyme A dehydrogenase deficiency (VLCADD), a condition that prevents the body from converting certain fats to energy.

Genetics

The ACADVL gene is located on the short (p) arm of chromosome 17 at position 13.3. More precisely, the ACADVL gene is located from base pair 17,664,758 to base pair 17,726,047 on chromosome 17.

See Also

• Fatty acid metabolism
• Mitochondrial disease
• Metabolic disorder