hereditary xanthinuria
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.
MONDO:0019743
obsolete nephropathy secondary to a storage or other metabolic disease (obsolete MONDO:0019743)
excluded_subClassOf
MONDO:0000721
xanthinuria
is_a
MONDO:0019236
inborn disorder of purine metabolism
is_a
classic xanthinuria
exact
hereditary xanthinuria
exact
xanthic urolithiasis
exact
xanthine stone disease
exact