Xanthinuria type I

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Xanthinuria type I

Synonyms: XDH deficiency | XO deficiency | XOR deficiency | Xanthine dehydrogenase deficiency | Xanthine oxidase deficiency | Xanthine oxidoreductase deficiency

Type I xanthinuria a type of classical xanthinuria (see this term) is a rare autosomal recessive disorder of purine metabolism (see this term) characterized by the isolated deficiency of xanthine dehydrogenase causing hyperxanthinemia with low or absent uric acid and xanthinuria leading to urolithiasis hematuria renal colic and urinary tract infections while some patients are asymptomatic and others suffer from kidney failure. Less common manifestations include arthropathy myopathy and duodenal ulcer.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024

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