ⓘ Xanthinuria

                                     

ⓘ Xanthinuria

Xanthinuria, also known as xanthine oxidase deficiency, is a rare genetic disorder causing the accumulation of xanthine. It is caused by a deficiency of the enzyme xanthine oxidase.

It was first formally characterized in 1954.

                                     
  • human molybdenum cofactor sulfurase gene is responsible for classical xanthinuria type II Biochem Biophys Res Commun. 282 5 1194 200. doi: 10.1006 bbrc
  • intake. Type I xanthinuria has been traced directly to mutations of the XDH gene which mediates xanthine oxidase activity. Type II xanthinuria may result
  • site folic acid type Xanthic urolithiasis Xanthine oxydase deficiency Xanthinuria Xanthomatosis cerebrotendinous Xerocytosis, hereditary Xeroderma Xeroderma
  • receptor subtypes. People with the rare genetic disorders, specifically xanthinuria and Lesch Nyhan syndrome, lack sufficient xanthine oxidase and cannot
  • human molybdenum cofactor sulfurase gene is responsible for classical xanthinuria type II Biochem. Biophys. Res. Commun. 282 5 1194 200. doi: 10.1006 bbrc