Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition Type I xanthinuria, a type of classical xanthinuria (see this term), is a rare autosomal recessive disorder of purine metabolism (see this term) characterized by the isolated deficiency of xanthine dehydrogenase, causing hyperxanthinemia with low or absent uric acid and xanthinuria, leading to urolithiasis, hematuria, renal colic and urinary tract infections, while some patients are asymptomatic and others suffer from kidney failure. Less common manifestations include arthropathy, myopathy and duodenal ulcer. Disease data Classification Etiological subtype Synonyms XDH deficiency Niedobór dehydrogenazy ksantynowej Niedobór oksydazy ksantynowej Niedobór oksydoreduktazy ksantynowej Niedobór XDH Niedobór XO Niedobór XOR XO deficiency XOR deficiency Xanthine dehydrogenase deficiency Xanthine oxidase deficiency Xanthine oxidoreductase deficiency ORPHA code 93601 OMIM code 278300 ICD10 code E79.8 ICD11 code - *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