MCAD deficiency

(redirected from Medium-chain acyl-coenzyme A dehydrogenase 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 ?
3,4) Another reason for this decline may be improvement in the diagnosis of metabolic diseases, such as medium-chain acyl-coenzyme A dehydrogenase deficiency, that cause illnesses similar to Reye's syndrome.
Table 1 Metabolic disorders that have presentations similar to Reye's syndrome Disorders of ureagencsis Partial ornithine transcarbamoylasc deficiency Partial carbamoylphosphatc deficicncy Partial arginosuccinic acid synthase deficiency Disorders of mitochondrial fatty acid oxidation and ketogenesis Medium-chain acyl-coenzyme A dehydrogenase deficiency Light-chain acyl-coenzyme A dehydrogenase deficiency Carnitine transport defect Organic acidurias Glutaricaciduria, type 1 Carbohydrate metabolism Respiratory-chain disorders

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