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Xanthinuria



Xanthinuria
Classification & external resources
The structure of xanthine.
ICD-10 E79.8
ICD-9 277.2
OMIM 278300 603592
DiseasesDB 14194 29821
eMedicine ped/2452 

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.

Additional recommended knowledge

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.
  • 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.
  • 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.
 
This article is licensed under the GNU Free Documentation License. It uses material from the Wikipedia article "Xanthinuria". A list of authors is available in Wikipedia.
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