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
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