What causes MCADD?

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.

How is MCADD inherited?

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.