Acyl-CoA dehydrogenase 9 deficiency

Definition:

Acyl-CoA dehydrogenase 9 (ACAD9) deficiency is one of the mitochondrial fatty-acid oxidation disorders that has recently been described. ACAD9 is a mitochondrial protein involved in oxidative phosphorylation complex I biogenesis. This protein also exhibits acyl-CoA dehydrogenase activity. Patients have been reported to suffer from primarily heart, muscle, liver, and nervous system disorders.

References:

[1]. Joseph P Dewulf, et al. Evidence of a wide spectrum of cardiac involvement due to ACAD9 mutations: Report on nine patients. Mol Genet Metab. 2016 Jul;118(3):185-189. [Content Brief]

[2]. M He, et al. A new genetic disorder in mitochondrial fatty acid beta-oxidation: ACAD9 deficiency. Am J Hum Genet. 2007 Jul;81(1):87-103. [Content Brief]

[3]. Michelle Kompare, et al. Mitochondrial fatty-acid oxidation disorders. Semin Pediatr Neurol. 2008 Sep;15(3):140-9. [Content Brief]

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