disease has basis in dysfunction of XDH xanthinuria type I GARD:0005621 ICD10:E79.8 MESH:C562584 MONDO:0010209 OMIM:278300 Orphanet:93601 SCTID:72682008 Type I xanthinuria, a type of classical xanthinuria, is a rare autosomal recessive disorder of purine metabolism 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. XAN1 XDH deficiency XO deficiency XOR deficiency hereditary xanthinuria, type I isolated xanthine oxidase deficiency type 1 xanthinuria xanthine dehydrogenase deficiency xanthine oxidase deficiency xanthine oxidoreductase deficiency xanthinuria type 1 xanthinuria, type 1 xanthinuria, type I hereditary xanthinuria