Xanthinuria type 1 (Q90423)

Type I xanthinuria, a type of classical xanthinuria, is a rare autosomal recessive disorder of purine metabolism characterised by the isolated deficiency of xanthine dehydrogenase, causing hyperxanthinaemia with low or absent uric acid and xanthinuria, leading to urolithiasis, haematuria, 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.