MCADD is caused by a mutation in the ACADM gene. This gene gives the body instructions for making an enzyme called medium-chain acyl-CoA dehydrogenase, needed to break down fats into energy.
Everyone has two copies of each gene in their body’s cells, one copy from each parent. MCADD follows a recessive inheritance pattern. This means that a patient with MCADD must have two faulty copies of ACADM to cause features of MCADD.
An individual with one faulty copy of ACADM is known as a carrier. Typically, carriers of an autosomal recessive condition do not have any signs or symptoms.
