Xanthinuria is an autosomal recessive disease that is caused by either xanthine dehydrogenase deficiency (xanthinuria type I) or xanthine dehydrogenase and aldehyde oxidase deficiency (xanthinuria type II).
Xanthinuria type I,is caused by mutations in the XDH gene. This gene encodes xanthine dehydrogenase, which carries out the final stages of purine metabolism (conversion of hypoxanthine to xhantine and of xanthine to uric acid). It is characterized by low concentrations of uric acid in blood and urine and high concentrations of xanthine in urine, which produces urolithiasis. Xanthinuria type II is due to mutations in the MOCOS gene, which codes for molybdenum cofactor sulfarase. Patients present hematuria, kidney stones, urolithiasis, or even acute kidney failure.
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