Hereditary xanthinuria
MONDO:0018106Hereditary xanthinuria is a purine metabolism disorder due to inherited deficiency of the xanthine dehydrogenase/oxidase enzyme and is characterized by very low (or undetectable) concentrations of uric acid in blood and urine and very high concentration of xanthine in urine, leading to urolithiasis.
Also known as: classic xanthinuria, hereditary xanthinuria, xanthic urolithiasis, xanthine stone disease, xanthinuria
1 clinical trial for this condition and its sub-types.
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Broader categories
Disease
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Metabolic disease
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Hereditary disease
(176)
Inborn errors of metabolism
(45)
Human disease
(14)
Disease of genetic or genomic mechanism
(2)
Inborn disorder of purine or pyrimidine metabolism
(1)
Disease by developmental or physiological process
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Disease by etiologic mechanism
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Inborn disorder of purine metabolism
(0)