Recombinant Human ACAD8

Background

ACAD8 is a mitochondrial enzyme involved in the catabolism of isoleucine, a branched-chain amino acid, through its role in the propionyl-CoA pathway. It catalyzes the dehydrogenation of isobutyryl-CoA, an essential step in the breakdown of isoleucine into intermediates that can enter the tricarboxylic acid (TCA) cycle for energy production. ACAD8 is expressed predominantly in tissues with high metabolic activity, including the liver and muscles, where branched-chain amino acid metabolism is critical for energy balance. Mutations in the ACAD8 gene are associated with isobutyryl-CoA dehydrogenase deficiency, a rare metabolic disorder characterized by elevated levels of isobutyryl-carnitine and potential metabolic acidosis. Its role in amino acid metabolism underscores its importance in both energy production and metabolic regulation, particularly during periods of increased energy demand, such as fasting or physical exertion.