Xanthinuria
Xanthinuria, also known as xanthine oxidase deficiency, is a rare genetic disorder causing the accumulation of xanthine. It is caused by a deficiency of the enzyme xanthine oxidase.
| Xanthinuria | |
|---|---|
 | |
| Xanthine | |
| Specialty | Endocrinology  |
It was first formally characterized in 1954.[1]
Presentation
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.
Causes
Type I xanthinuria can be caused by a deficiency of xanthine oxidase, which is an enzyme necessary for converting xanthine to uric acid.[2] Type II xanthinuria and molybdenum cofactor deficiency lack one or two other enzyme activities in addition to xanthine oxidase.[3]
Treatment
There is no specific treatment beyond maintaining a high fluid intake and avoiding foods that are high in purine.
References
- Dent CE, Philpot GR (1954). "Xanthinuria, an inborn error (or deviation) of metabolism". Lancet. 266 (6804): 182–5. doi:10.1016/S0140-6736(54)91257-X. PMID 13118765.
- Ichida K, Amaya Y, Kamatani N, Nishino T, Hosoya T, Sakai O (1997). "Identification of two mutations in human xanthine dehydrogenase gene responsible for classical type I xanthinuria". J. Clin. Invest. 99 (10): 2391–7. doi:10.1172/JCI119421. PMC 508078. PMID 9153281.
- Ichida K, Amaya Y, Kamatani N, Nishino T, Hosoya T, Sakai O. "Identification of two mutations in human xanthine dehydrogenase gene responsible for classical type I xanthinuria". J Clin Invest. 99(10):2391-7. PMID 9153281
- 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. doi:10.1016/0009-8981(84)90179-7. PMID 6423323.
- Hille R. (2006). "Structure and Function of Xanthine Oxidoreductase". European Journal of Inorganic Chemistry. 2006 (10): 1905–2095. doi:10.1002/ejic.200600087.