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 April 2024
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Xanthinuria type I?
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Advocacy Organizations
Louisiana Metabolic Disorders Coalition
We support, educate, and advocate for patients & families affected by metabolic disorders.
Mississippi Metabolics Foundation
Our mission at Mississippi Metabolics Foundation (MMF) is to advocate, educate, and support families in MS affected by genetic metabolic disorders/inborn errors of metabolism (IEM's). MMF promotes initiatives and further advancements in legislation, education, research, clinical trials, studies, therapies, targeted treatments, and eventual cures for IEM’s and all rare diseases.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
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