Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition Isolated ATP synthase deficiency is a rare, genetic, mitochondrial oxidative phosphorylation disorder that may present with a wide range of symptoms (including muscular hypotonia, hypertrophic cardiomyopathy, psychomotor delay, encephalopathy, peripheral neuropathy, lactic acidosis, 3-methylglutaconic aciduria) and clinical syndromes (including NARP and MILS). Disease data Classification Disease Synonyms Isolated mitochondrial respiratory chain complex V deficiency Izolowany Niedobór kompleksu V mitochondrialnego łańcucha oddechowego ORPHA code 254913 OMIM code 614053 ICD10 code E88.8 ICD11 code 5C53.25 *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