Recombinant Human ACADM

Background

The ACADM gene encodes the enzyme acyl-Coenzyme A dehydrogenase, specific to medium-chain fatty acids (C4 to C12 straight chain). This enzyme plays a crucial role in the initial step of the mitochondrial fatty acid beta-oxidation pathway, essential for converting medium-chain fatty acids into energy, particularly during fasting periods. Defects in this gene lead to medium-chain acyl-CoA dehydrogenase deficiency, characterized by hepatic dysfunction, fasting hypoglycemia, and encephalopathy, which can be fatal in infants. ACADM enzyme functions within mitochondria, primarily in the liver, where it aids in the breakdown of medium-chain fatty acids obtained from diet or stored in the body's fat tissue. Alternative splicing generates various isoforms of this enzyme.