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Xanthinuria type II

MONDO:0011346

Type II xanthinuria, a type of classical xanthinuria, is a rare autosomal recessive disorder of purine metabolism 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.

Also known as: XAN2, XDH and AOX dual deficiency, xanthine dehydrogenase and aldehyde oxidase, combined deficiency of, xanthine dehydrogenase and xanthine aldehyde oxidase dual deficiency, type 2 xanthinuria, type II xanthinuria, xanthine dehydrogenase and aldehyde oxidase combined deficiency of, xanthinuria type 2

25 clinical trials for this condition and its sub-types.

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Broader categories

Disease (618) Metabolic disease (215) Hereditary disease (172) Inborn errors of metabolism (42) Human disease (14) Disease of genetic or genomic mechanism (2) Inborn disorder of purine or pyrimidine metabolism (1) Disease by developmental or physiological process (0) Disease by etiologic mechanism (0) Hereditary xanthinuria (0)
Trials to join now! 14 Not yet recruiting 3 Not yet finished but already full! 3 Completed 5
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