Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition Type II xanthinuria, a type of classical xanthinuria (see this term), is a rare autosomal recessive disorder of purine metabolism (see this term) characterized by the deficiency of both xanthine dehydrogenase and aldehyde oxidase, leading to the formation of urinary xanthine urolithiasis and leading, in some patients, to kidney failure. Other less common manifestations include arthropathy, myopathy and duodenal ulcer, while some patients remain asymptomatic. Disease data Classification Etiological subtype Synonyms XDH and AOX dual deficiency Podwójny Niedobór dehydrogenazy ksantynowej i oksydazy aldehydowej ksantyny Podwójny Niedobór XDH i AOX Xanthine dehydrogenase and xanthine aldehyde oxidase dual deficiency ORPHA code 93602 OMIM code 603592 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