Disease : Xanthinuria

Name : Xanthinuria
Description : Excretion of very large amounts of xanthine in the urine. The main symptom is the tendency to form xanthine stones. Two distinct but clinically similar forms:

Type I: isolated deficiency of xanthine dehydrogenase

Type II: dual deficiency of xanthine dehydrogenase and aldehyde oxidase.
Gene(s) :
Localization(s) :
  • Cytosol
  • Peroxisomal matrix
Functional category(ies) :
Links of Interest: