Xanthinuria
From Wikipedia, the free encyclopedia
 |
|
|---|---|
| The structure of xanthine. | |
| ICD-10 | E79.8 |
| ICD-9 | 277.2 |
| OMIM | 278300 603592 |
| DiseasesDB | 14194 29821 |
| eMedicine | ped/2452 |
Xanthinuria 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.
[edit] Treatment
There is no specific treatment beyond maintaining a high fluid intake and avoiding foods that are high in purine.
[edit] 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". 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.
