Description of the disease * EnglishPolish Pobierz sekcję do PDF Definicja 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). Disease data Klasyfikacja Disease Synonimy Isolated NADH-CoQ reductase deficiency Izolowany Niedobór kompleksu I mitochondrialnego łańcucha oddechowego Izolowany Niedobór reduktazy NADH-koenzym Q Izolowany Niedobór reduktazy NADH-ubikwinon Isolated NADH-coenzyme Q reductase deficiency Isolated NADH-ubiquinone reductase deficiency Isolated mitochondrial respiratory chain complex I deficiency Kod ORPHA 2609 Kod OMIM 618242 Kod ICD10 G71.3 Kod ICD11 5C53.2Y *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl