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Xanthinuria

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Xanthinuria
SpecialtyEndocrinology Edit this on Wikidata

Xanthinuria, also known as Xanthine oxydase deficiency is a rare genetic disorder that causes a deficiency of xanthine oxidase, an enzyme necessary for converting xanthine to uric acid.

Sufferers have unusually high concentrations of xanthine in their blood and urine, which can lead to health problems such as renal failure and xanthine kidney stones, one of the rarest types of kidney stones.

Treatment

There is no specific treatment beyond maintaining a high fluid intake and avoiding foods that are high in purine.

References

  • Kojima T., Nishina T., Kitamura M., Hosoya T., Nishioka K. (1984). "Biochemical studies on the purine metabolism of four cases with hereditary xanthinuria". Clin Chim Acta. 137 (2): 189–98. PMID 6423323.{{cite journal}}: CS1 maint: multiple names: authors list (link)
  • Ichida K., Amaya Y., Kamatani N.; et al. (1997). "Identification of two mutations in human xanthine dehydrogenase gene responsible for classical type I xanthinuria". Journal of Clinical Investigation. 99 (10): 2391–2397. PMID 9153281. {{cite journal}}: Explicit use of et al. in: |author= (help)CS1 maint: multiple names: authors list (link)
  • Dent C. E., Philpot G. R. (1954). "Xanthinuria, an inborn error (or deviation) of metabolism". The Lancet. 266 (6804): 182–5.
  • Hille R. (2006). "Structure and Function of Xanthine Oxidoreductase". European Journal of Inorganic Chemistry. 2006 (10): 1905–2095. doi:10.1002/ejic.200600087.
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