medium chain acyl-coenzyme A dehydrogenase deficiency
medium chain acyl-coenzyme A dehydrogenase deficiency
An 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.Clinical findings
Intolerance to fasting, episodic vomiting, lethargy, coma, seizure, sudden death.
Lab
Hypoketotic hypoglycaemia, medium-chain dicarboxylic aciduria.
Diagnosis
Mutation analysis of paraffin-embedded blocks of postmortem tissue.
Molecular pathology
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.
Management
Preventive by early therapy, frequent feedings or a slow release source of carbohydrates (e.g., uncooked cornstarch); avoid fasting.
medium chain acyl-coenzyme A dehydrogenase deficiency
An AR disease of fatty acid oxidation seen in the first 2 yrs of life as either sudden unexplained death at home or, if in the hospital, as Reye syndrome, due to an inability to break down fat to ketones and energy Clinical Intolerance to fasting, episodic vomiting, lethargy, coma, seizure, sudden death Lab Hypoketotic hypoglycemia, medium-chain dicarboxylic aciduria Diagnosis Mutation analysis of paraffin-embedded blocks of postmortem tissue.