Xanthinuria is a rare genetic disorder characterized by elevated levels of xanthine and hypoxanthine in the urine, leading to the formation of xanthine stones in the urinary tract. It is caused by a deficiency or absence of the enzyme xanthine oxidase (XO) or its precursor enzyme, xanthine dehydrogenase (XDH). These enzymes are responsible for converting xanthine to uric acid, which is then excreted from the body.
Xanthinuria requires a multidisciplinary approach to management, involving urologists, nephrologists, and geneticists, to provide comprehensive care and support to affected individuals.