Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A rare, mitochondrial oxidative phosphorylation disorder characterized by a highly variable phenotype. The severe, multisystemic disease involves brain, heart, muscles, liver, kidneys, and eyes and results in death in infancy. Mildly affected individuals have only isolated cardiac or muscle involvement in the adulthood. Histochemical and biochemical analysis reveals a global reduction of succinate dehydrogenase activity. Disease data Classification Disease Synonyms Isolated mitochondrial respiratory chain complex II deficiency Izolowany Niedobór kompleksu II mitochondrialnego łańcucha oddechowego Izolowany Niedobór reduktazy sukcynylo-koenzymu Q Izolowany Niedobór reduktazy sukcynylo-ubichinionu Isolated succinate dehydrogenase deficiency Isolated succinate-coenzyme Q reductase deficiency Isolated succinate-ubiquinone reductase deficiency ORPHA code 3208 OMIM code 252011 ICD10 code G71.3 ICD11 code 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