ACADM Human

The enzyme is a homotetramer, meaning it consists of four identical subunits. Each subunit contributes to the enzyme’s overall function, which involves the introduction of a trans double-bond between the C2 (α) and C3 (β) positions of the acyl-CoA thioester substrate . This reaction is essential for the subsequent steps in the fatty acid β-oxidation pathway, ultimately leading to the production of acetyl-CoA, which enters the citric acid cycle to generate ATP, the energy currency of the cell .

The gene encoding this enzyme is known as ACADM. It is located on chromosome 1 in humans and provides the instructions for synthesizing the MCAD enzyme . Mutations in the ACADM gene can lead to a deficiency in MCAD, which is a metabolic disorder that impairs the body’s ability to break down medium-chain fatty acids. This condition can result in a range of symptoms, including hypoglycemia, lethargy, and in severe cases, sudden death .

The recombinant form of this enzyme, Human Recombinant Acyl-Coenzyme A Dehydrogenase, C-4 to C-12, is produced using Escherichia coli (E. coli) expression systems. The recombinant protein is typically purified to a high degree of purity, often greater than 90%, and is used in various research and diagnostic applications . The recombinant enzyme retains the functional properties of the native enzyme, making it a valuable tool for studying fatty acid metabolism and related disorders .

MCAD deficiency is one of the most common inherited disorders of fatty acid oxidation. Early diagnosis and management are crucial for preventing severe complications. Newborn screening programs often include tests for MCAD deficiency, allowing for early intervention and management through dietary modifications and other treatments .