medium chain acyl-coenzyme A dehydrogenase deficiencyAn autosomal recessive disease (OMIM:201450) of fatty acid oxidation due to an inability to catabolise fat to ketones and energy, seen in the first two years of life as either sudden unexplained death at home or, if in hospital, as Reye syndrome.
Intolerance to fasting, episodic vomiting, lethargy, coma, seizure, sudden death.
Hypoketotic hypoglycaemia, medium-chain dicarboxylic aciduria.
Mutation analysis of paraffin-embedded blocks of postmortem tissue.
Defects in ACADM, which encodes an enzyme that catalyses the initial step of the mitochondrial fatty acid beta-oxidation pathway, causes medium chain acyl-coenzyme A dehydrogenase deficiency.
Preventive by early therapy, frequent feedings or a slow release source of carbohydrates (e.g., uncooked cornstarch); avoid fasting.