Xanthinuria type II

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Xanthinuria type II

Synonyms: XDH and AOX dual deficiency | Xanthine dehydrogenase and xanthine aldehyde oxidase dual deficiency

Type II xanthinuria a type of classical xanthinuria (see this term) is a rare autosomal recessive disorder of purine metabolism (see this term) characterized by the deficiency of both xanthine dehydrogenase and aldehyde oxidase leading to the formation of urinary xanthine urolithiasis and leading in some patients to kidney failure. Other less common manifestations include arthropathy myopathy and duodenal ulcer while some patients remain asymptomatic.

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 II?

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Advocacy Organizations

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.

Clinical Trials

For a list of clinical trials in this disease area, please click here.