Xanthinuria: Difference between revisions
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==Causes== |
==Causes== |
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Type I xanthinuria can be caused by a deficiency of [[xanthine oxidase]], which is an enzyme necessary for converting [[xanthine]] to [[uric acid]].<ref name="pmid9153281">{{cite journal |author=Ichida K, Amaya Y, Kamatani N, Nishino T, Hosoya T, Sakai O |title=Identification of two mutations in human xanthine dehydrogenase gene responsible for classical type I xanthinuria |journal=[[J. Clin. Invest.]] |volume=99 |issue=10 |pages=2391–7 |year=1997 |pmid=9153281 |pmc=508078 |doi=10.1172/JCI119421}}</ref> In addition to xanthine oxidase, type II xanthinuria and molybdenum cofactor deficiency lack one or two other enzyme activities. <ref>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 </ref> |
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==Presentation== |
==Presentation== |
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Revision as of 20:17, 17 March 2013
| Xanthinuria | |
|---|---|
| Specialty | Endocrinology  |
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.
It was first formally characterized in 1954.[1]
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] In addition to xanthine oxidase, type II xanthinuria and molybdenum cofactor deficiency lack one or two other enzyme activities. [3]
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 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.
{{cite journal}}: CS1 maint: multiple names: authors list (link) - ^ 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.
{{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.
{{cite web}}: Missing or empty|title=(help) - Xanthinuria at NIH's Office of Rare Diseases