acyl-CoA dehydrogenase—medium chain—deficiency of

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acyl-CoA dehydrogenase—medium chain—deficiency of2016-11-24T13:27:13+00:00

acyl-CoA dehydrogenase—medium chain—deficiency of

METABOLISM

Definition Acyl-CoA dehydrogenase—medium chain—deficiency of is an inborn error (OMIM:201450) of fatty acid beta-oxidation which causes fasting hypoglycaemia, hepatic dysfunction and encephalopathy, and often death in infancy.

Molecular pathology Defects of ACADM, which encodes a medium-chain specific (C4 to C12 straight chain) acyl-coenzyme A dehydrogenase that catalyses the first step of the mitochondrial fatty acid beta-oxidation pathway, cause acyl-CoA dehydrogenase—medium chain—deficiency of.

Synonyms ACADM deficiency, carnitine deficiency secondary to medium chain acyl-CoA dehydrogenase deficiency, MCAD deficiency, MCADH deficiency

References http://www.uniprot.org/uniprot/P11310

http://www.omim.org/entry/201450

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