Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A rare, genetic disorder of urea cycle metabolism and ammonia detoxification characterized by either a severe, neonatal-onset disease found mainly in males, or later-onset (partial) forms of the disease. Both present with episodes of hyperammonemia that can be fatal and which can lead to neurological sequelae. Disease data Classification Disease Synonyms OCT deficiency Niedobór karbamylotransferazy ornityny Niedobór OCT Niedobór OTC OTC deficiency Ornithine carbamoyltransferase deficiency ORPHA code 664 OMIM code 311250 ICD10 code E72.4 ICD11 code 5C50.AY *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