ACADL

ACADL or Acyl-CoA Dehydrogenase, Long Chain is an enzyme that in humans is encoded by the ACADL gene. It is involved in the breakdown of long-chain fatty acids, a process that provides energy for the body. Mutations in this gene can lead to a variety of metabolic disorders, including lipid metabolism disorders and fatty acid oxidation disorders.

Function

The ACADL enzyme is part of a family of enzymes known as Acyl-CoA dehydrogenases. These enzymes catalyze the dehydrogenation of acyl-CoA derivatives in the metabolism of fatty acids and some amino acids. The enzyme encoded by this gene uses flavin adenine dinucleotide (FAD) as a cofactor to catalyze the initial step of the mitochondrial fatty acid beta-oxidation pathway.

Clinical significance

Mutations in the ACADL gene can lead to a deficiency in the ACADL enzyme, a condition known as ACADL deficiency or long-chain acyl-CoA dehydrogenase deficiency (LCAD deficiency). This is a rare inherited disorder that prevents the body from converting certain fats into energy. Symptoms can include hypoglycemia, muscle weakness, and cardiomyopathy.

Diagnosis and Treatment

Diagnosis of ACADL deficiency is typically made through a combination of clinical examination, biochemical testing, and molecular genetic testing. Treatment typically involves dietary management to avoid long periods of fasting, and in some cases, supplementation with medium-chain triglycerides.

See also

• Acyl-CoA dehydrogenase
• Fatty acid metabolism
• Metabolic disorder