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Acyl-CoA dehydrogenase 9 deficiency
Disease definition
A rare disorder characterized by neurological dysfunction, hepatic failure and cardiomyopathy due to a deficiency of complex I of the respiratory chain.
ORPHA:99901
Classification level: Disorder- Synonym(s):
- ACAD9 deficiency
- Prevalence: Unknown
- Inheritance: Autosomal recessive
- Age of onset: Infancy, Neonatal, Childhood
- ICD-10: E71.3
- OMIM: 611126
- UMLS: C1970173
- MeSH: C567006
- GARD: -
- MedDRA: 10081518
Summary
Epidemiology
The prevalence is unknown.
Clinical description
Patients present predominantly with neurological, hepatic and /or cardiomyopathic disease with isolated NADH-CoQ reductase deficiency (see this term). Manifestations include failure to thrive, hypertrophic cardiomyopathy, exercise intolerance, liver disease and mild to severe neurological dysfunction.
Etiology
ACAD9 deficiency is caused by a mutation in the ACAD9 gene (3q21.3) that encodes the protein ACAD9. This protein has only relatively recently been described but is quite widely expressed in tissues and has activity as an acyl-CoA dehydrogenase with overlapping substrate specificity with very long-chain acyl-CoA dehydrogenase (VLCAD). It also acts an assembly factor for complex I of the respiratory chain and therefore has a vital role in the production of a functioning mitochondrial respiratory chain.
Genetic counseling
The mode of inheritance is autosomal recessive and genetic counseling is possible.
A summary on this disease is available in Deutsch (2014) Español (2014) Français (2014) Italiano (2014) Nederlands (2014) Polski (2014, pdf) Russian (2014, pdf)
Additional information