Xanthinuria
| Xanthinuria | |
|---|---|
| Specialty | Endocrinology  |
Xanthinuria, also known as Xanthine oxydase deficiency is a rare genetic disorder causing the accumulation of xanthine.
It was first formally characterized in 1954.[1]
Causes
It can be caused by a deficiency of xanthine oxidase, which is an enzyme necessary for converting xanthine to uric acid. [2]
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.
Treatment
There is no specific treatment beyond maintaining a high fluid intake and avoiding foods that are high in purine.
References
- ^ Dent C. E., Philpot G. R. (1954). "Xanthinuria, an inborn error (or deviation) of metabolism". The Lancet. 266 (6804): 182–5. doi:10.1016/S0140-6736(54)91257-X.
- ^ 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.
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- 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.
{{cite journal}}: CS1 maint: multiple names: authors list (link)
- Hille R. (2006). "Structure and Function of Xanthine Oxidoreductase". European Journal of Inorganic Chemistry. 2006 (10): 1905–2095. doi:10.1002/ejic.200600087.
External links
- . GPnotebook https://www.gpnotebook.co.uk/simplepage.cfm?ID=644546576.
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