Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A rare purine metabolism disorder due to inherited deficiency of the xanthine dehydrogenase/oxidase enzyme and is characterized by very low (or undetectable) concentrations of uric acid in blood and urine and very high concentration of xanthine in urine, leading to urolithiasis. Disease data Classification Disease Synonyms Classic xanthinuria Choroba kamieni ksantynowych Kamica ksantynowa Ksantynuria klasyczna Xanthic urolithiasis Xanthine stone disease ORPHA code 3467 OMIM code 603592 ICD10 code E79.8 ICD11 code 5C55.00 *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