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Hereditary xanthinuria

What is Hereditary xanthinuria?

A rare purine metabolism disorder due to inherited deficiency of the xanthine dehydrogenase/oxidase enzyme and is characterized by very low (or undetectable) concentrations of uric acid in blood and urine and very high concentration of xanthine in urine, leading to urolithiasis.

Other condition names

  • Classic xanthinuria
  • Xanthic urolithiasis
  • Xanthine stone disease

Inheritance type

Autosomal recessive

Prevalence

  • Worldwide: Unknown

Age of Onset

  • All ages
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on "https://www.orphadata.com". Data version 1.3.16 / 4.1.7.