Hereditary xanthinuria
Hereditary xanthinuria
Definition
Hereditary 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 — per MONDO