Xanthinuria type I

MONDO:0010209

A rare autosomal recessive disorder of purine metabolism 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.

Also known as: XDH deficiency, XO deficiency, XOR deficiency, xanthine dehydrogenase deficiency, xanthine oxidase deficiency, xanthine oxidoreductase deficiency, XAN1, isolated xanthine oxidase deficiency

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

Xanthinuria type I

Broader categories

New vitamin supplements aim to make life easier for kids with rare metabolic disorders

Massive genetic study aims to unlock secrets of rare metabolic diseases

Study on COVID-19 and metabolic disorders pulled before it began