Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A rare inborn error of metabolism characterized by low serum carnosinase activity, persistent carnosinuria, and carnosinemia. The clinical phenotype is highly variable, with some patients remaining asymptomatic, while others have been reported to show severe developmental delay, intellectual disability, hypotonia, seizures, and other neurological signs and symptoms. Disease data Classification Biological anomaly Synonyms Deficyt karnozydazy ORPHA code 1361 OMIM code 212200 ICD10 code E70.8 ICD11 code 5C50.F1 *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