Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A rare autosomal recessive amino acid metabolism disorder characterized clinically by variable degrees of hyperammonemia, developing from about 3 years of age, and leading to progressive loss of developmental milestones and spasticity in the absence of treatment. Disease data Classification Disease Synonyms Arginase deficiency Hyperargininemia Niedobór arginazy Hyperargininemia ORPHA code 90 OMIM code 207800 ICD10 code E72.2 ICD11 code 5C50.A2 *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