Xanthinuria type I

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.

Also known as: XDH deficiency, XO deficiency, XOR deficiency, xanthine dehydrogenase deficiency, xanthine oxidase deficiency, xanthine oxidoreductase deficiency, XAN1, isolated xanthine oxidase deficiency

1 clinical trial for this condition and its sub-types.