KEGG DISEASE: Acyl-CoA dehydrogenase 9 deficiency

KEGG

DISEASE: Acyl-CoA dehydrogenase 9 deficiency

Entry

H02085                      Disease

Name

Acyl-CoA dehydrogenase 9 deficiency

Supergrp

Disorders of mitochondrial fatty-acid oxidation [DS:H00525]
Secondary hyperammonemia [DS:H01400]
Mitochondrial disease [DS:H01427]

Description

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.

Category

Inherited metabolic disorder

Brite

Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C52  Inborn errors of lipid metabolism
     H02085  Acyl-CoA dehydrogenase 9 deficiency

Gene

ACAD9 [HSA:28976] [KO:K15980]

Other DBs

ICD-11:

OMIM:

Reference

Authors

Dewulf JP, Barrea C, Vincent MF, De Laet C, Van Coster R, Seneca S, Marie S, Nassogne MC

Title

Evidence of a wide spectrum of cardiac involvement due to ACAD9 mutations: Report on nine patients.

Journal

Mol Genet Metab 118:185-9 (2016)
DOI:10.1016/j.ymgme.2016.05.005

Reference

Authors

He M, Rutledge SL, Kelly DR, Palmer CA, Murdoch G, Majumder N, Nicholls RD, Pei Z, Watkins PA, Vockley J

Title

A new genetic disorder in mitochondrial fatty acid beta-oxidation: ACAD9 deficiency.

Journal

Am J Hum Genet 81:87-103 (2007)
DOI:10.1086/519219

Reference

Authors

Kompare M, Rizzo WB

Title

Mitochondrial fatty-acid oxidation disorders.

Journal

Semin Pediatr Neurol 15:140-9 (2008)
DOI:10.1016/j.spen.2008.05.008

LinkDB

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