xanthinuria type II
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.
MONDO:0018106
hereditary xanthinuria
is_a
XAN2
exact
XDH and AOX dual deficiency
exact
type 2 xanthinuria
related
type II xanthinuria
related
xanthine dehydrogenase and aldehyde oxidase combined deficiency of
related
xanthine dehydrogenase and aldehyde oxidase, combined deficiency of
exact
xanthine dehydrogenase and xanthine aldehyde oxidase dual deficiency
exact
xanthinuria type 2
related