H00488
H number H00488
Name MCAD deficiency;
Medium-chain acyl-CoA dehydrogenase deficiency;
ACADM deficiency
Description Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is an autosomal recessive disorder, caused by mutations in the ACADM gene. It is the most commonly recognized defect of mitochondrial beta-oxidation and is potentially fatal. The clinical manifestations are diverse, but usually they include fasting induced non-ketotic hypoglycemia with lethargy which may develop into coma.
Category Inherited metabolic disease; Mitochondrial disease