Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A rare, severe disorder of urea cycle metabolism typically characterized by either a neonatal-onset of severe hyperammonemia that occurs few days after birth and manifests with lethargy, vomiting, hypothermia, seizures, coma and death or a presentation outside the newborn period at any age with (sometimes) milder symptoms of hyperammonemia. Disease data Classification Disease Synonyms CPS1 deficiency CPS1D Niedobór CPS1 Niedobór syntetazy karbamoilofosforanowej Niedobór syntetazy karbamoilofosforanowej 1 CPS1D Carbamoyl-phosphate synthetase I deficiency Carbamoyl-phosphate synthetase deficiency ORPHA code 147 OMIM code 237300 ICD10 code E72.2 ICD11 code 5C50.A1 *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