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GTR Home > Conditions/Phenotypes > Acyl-CoA dehydrogenase 9 deficiency


MC1DN20 is an autosomal recessive multisystem disorder characterized by infantile onset of acute metabolic acidosis, hypertrophic cardiomyopathy, and muscle weakness associated with a deficiency of mitochondrial complex I activity in muscle, liver, and fibroblasts (summary by Haack et al., 2010). For a discussion of genetic heterogeneity of mitochondrial complex I deficiency, see 252010. [from OMIM]

Available tests

66 tests are in the database for this condition.

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Genes See tests for all associated and related genes

  • Also known as: MC1DN20, NPD002, ACAD9
    Summary: acyl-CoA dehydrogenase family member 9

Clinical features


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