xanthinuria type I
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.
MONDO:0018106
hereditary xanthinuria
is_a
XAN1
exact
XDH deficiency
broad
XO deficiency
broad
XOR deficiency
broad
isolated xanthine oxidase deficiency
exact
type 1 xanthinuria
related
xanthine dehydrogenase deficiency
broad
xanthine oxidase deficiency
broad
xanthine oxidoreductase deficiency
broad
xanthinuria type 1
exact
xanthinuria type I
exact
xanthinuria, type 1
exact
xanthinuria, type I
exact