Mitochondrial Complex I Deficiency, Nuclear Type 20

Alternative Names

  • MC1DN20
  • Mitochondrial Complex I Deficiency due to ACAD9 Deficiency
  • Acyl-CoA Dehydrogenase 9 Deficiency
  • ACAD9 Deficiency
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WHO-ICD-10 version:2010

Endocrine, nutritional and metabolic diseases

Metabolic disorders

OMIM Number


Mode of Inheritance

Autosomal recessive

Gene Map Locus



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. [From OMIM]

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
611126.1Saudi ArabiaFemale Hypotonia; Cardiomyopathy; Death in chil...NM_014049.5:c.1240C>THomozygousAutosomal, RecessiveAl-Hassnan et al. 2020
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