Xanthinuria
| Xanthinuria | |
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| Xanthine | |
| ICD-10 | E79.8 |
| ICD-9 | 277.2 |
| OMIM | 278300 603592 |
| DiseasesDB | 14194 29821 |
| eMedicine | ped/2452 |
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Overview
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
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 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. 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.
External links
- 644546576 at GPnotebook
- Xanthinuria at NIH's Office of Rare Diseases
Purine, pyrimidine, porphyrin, bilirubin metabolic pathology (E79-80, 277.1-277.2, 277.4) | |
|---|---|
| Purine and pyrimidine | Adenine phosphoribosyltransferase deficiency - Dihydropyrimidine dehydrogenase deficiency - Hyperuricemia - Lesch-Nyhan syndrome - Purine nucleoside phosphorylase deficiency - Xanthinuria |
| Porphyrin | Acute intermittent, Gunther's, Cutanea tarda, Erythropoietic, Hepatoerythropoietic, Hereditary copro-, Variegate |
| Bilirubin | Unconjugated (Lucey-Driscoll syndrome, Gilbert's syndrome, Crigler-Najjar syndrome) - Conjugated (Dubin-Johnson syndrome, Rotor syndrome) |
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