Xanthinuria


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ICD9 = | ICDO = | Image = xanthine.png | Caption = The structure of xanthine. | OMIM = 278300 | OMIM_mult = | MedlinePlus = | eMedicineSubj = ped | eMedicineTopic = 2452 | DiseasesDB = 14194 | DiseasesDB_mult = | MeshName = | MeshNumber = |Xanthinuria, also known as Xanthine oxydase deficiency is a rare genetic disorder that causes a deficiency of xanthine oxidase, an enzyme necessary for converting xanthine to uric acid. 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.


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