MCADD is a genetic disorder caused by mutations in the ACADM gene, which provides instructions for making an enzyme known as medium-chain acyl-CoA dehydrogenase. This enzyme is essential for the oxidation of medium-chain fatty acids in mitochondria, the energy powerhouses of the cell. Individuals with MCADD are unable to break down these fatty acids efficiently, leading to energy deficits and the accumulation of potentially toxic fatty acids and derivatives.
