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Isolated complex I deficiency

Disease definition

Isolated complex I deficiency is a rare inborn error of metabolism due to mutations in nuclear or mitochondrial genes encoding subunits or assembly factors of the human mitochondrial complex I (NADH: ubiquinone oxidoreductase) and is characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome (see these terms).

ORPHA:2609

  • Synonym(s):
    • Isolated NADH-CoQ reductase deficiency
    • Isolated NADH-coenzyme Q reductase deficiency
    • Isolated NADH-ubiquinone reductase deficiency
    • Isolated mitochondrial respiratory chain complex I deficiency
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive or X-linked dominant or Mitochondrial inheritance 
  • Age of onset: All ages
  • ICD-10: G71.3
  • OMIM: 252010
  • UMLS: C2936907
  • MeSH: -
  • GARD: 3908
  • MedDRA: -

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