acyl-CoA dehydrogenase family—member 9—deficiency of

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acyl-CoA dehydrogenase family—member 9—deficiency of2016-11-24T13:19:41+00:00

acyl-CoA dehydrogenase family—member 9—deficiency of

METABOLISM

Definition Acyl-CoA dehydrogenase family—member 9—deficiency of is a hereditary condition (OMIM:611126) characterised by episodic liver dysfunction and otherwise mild disease, cardiomyopathy, and chronic neurologic disease.

Molecular pathology Defects in ACAD9, which encodes an enzyme that catalyses the rate-limiting step in the beta-oxidation of fatty acyl-CoA, cause acyl-CoA dehydrogenase deficiency. 

Synonym Mitochondrial complex deficiency due to ACAD9 deficiency 

References http://www.uniprot.org/uniprot/Q9H845

http://www.omim.org/entry/611126 

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