MCAD deficiency

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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.

MCAD deficiency

Medium-chain acyl-CoA dehydrogenase deficiency, see there.
References in periodicals archive ?
Roe, "Medium-chain acyl-coenzyme a dehydrogenase deficiency clinical course in 120 affected children," Journal of Pediatrics, vol.
Medium-chain acyl-coenzyme A dehydrogenase deficiency: Clinical course in 120 affected children.
The molecular basis of medium-chain acyl-coenzyme A dehydrogenase deficiency: an A to G transition at position 985 that causes a lysine-304 to glutamate substitution in the mature protein is the single prevalent mutation.

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