ACADM deficiency

Medium chain acyl-CoA dehydrogenase deficiency (ACADM deficiency) is an autosomal recessive inherited defect in mitochondrial fatty acid oxidation. MCAD is an electron transfer flavoprotein-dependent enzyme in the inner mitochondrial matrix. Those affected by this disease can not degrade fatty acids with 6 to 12 carbon atoms.

This leads to metabolic stress (fever, hunger, vomiting, diarrhea) to lack of energy. Often, hepatomegaly and hypoketotic hypoglycaemia (Pseudo-Reye syndrome) occur in the first two years of life.

The syndrome is triggered by prolonged fasting or infection. In about 50% of cases, patients are in a balanced metabolic state and remain symptom free. The disease usually manifests in childhood.

90% of mutant alleles carry the mutation A985G.