ACADM

(redirected from Medium-chain acyl-coenzyme A dehydrogenase)

ACADM

A gene on chromosome 1p31, which encodes a medium-chain-specific (C4 to C12 straight chain) acyl-Coenzyme A dehydrogenase, which catalyses the initial step of the mitochondrial fatty acid beta-oxidation pathway.

Molecular pathology
ACADM defects cause medium-chain acyl-CoA dehydrogenase deficiency, a disease characterised by hepatic dysfunction, fasting hypoglycemia and encephalopathy, which causes death in infancy.
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 (MCAD) deficiency is a condition which prevents the body from converting certain fats to energy.
The disorders tested in newborn screening include very long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency, long-chain 3-hyroxy acyl-coenzyme A dehydrogense deficiency (LCHAD), medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency, and short-chain acyl-coenzyme A dehydrogenase (SCALD) deficiency.
Medium-chain acyl-coenzyme A dehydrogenase deficiency: Clinical course in 120 affected children.
In particular, think of medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency, which is the most common of the inherited errors of fatty acid metabolism.
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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