Xanthinuria
| Xanthinuria | |
|---|---|
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| Classification and external resources | |
| Specialty | Lua error in Module:Wikidata at line 446: attempt to index field 'wikibase' (a nil value). |
| ICD-10 | E79.8 |
| ICD-9-CM | 277.2 |
| OMIM | 278300 603592 |
| DiseasesDB | 14194 29821 |
| eMedicine | ped/2452 |
| Patient UK | 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.
It was first formally characterized in 1954.[1]
Causes
Type I xanthinuria can be caused by a deficiency of xanthine dehydrogenase, 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]
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
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- ↑ 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
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External links
- 644546576 at GPnotebook
- Xanthinuria at NIH's Office of Rare Diseases
