Description

The ACADM gene encodes the medium-chain acyl-CoA dehydrogenase (MCAD), an homotetramer enzyme which catalyzes the initial step of the mitochondrial fatty acid beta-oxidation pathway. This enzyme functions within mitochondria, the energy-producing centers in cells. Defects in this gene cause medium-chain acyl-CoA dehydrogenase deficiency, a disease characterized by hepatic dysfunction, fasting hypoglycemia, and encephalopathy, which can result in infantile death (Nielsen et al., 2007).

External Information

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