xanthinuria

(redirected from Xanthine oxydase deficiency)

xanthinuria

 [zan″thin-u´re-ah]
excess of xanthine in the urine, due to a hereditary disorder of purine metabolism in which there is a deficiency of the enzyme xanthine oxidase.

xan·thi·nu·ri·a

(zan'thi-nyū'rē-ă),
1. Excretion of abnormally large amounts of xanthine in the urine.
2. A disorder [MIM*278300], characterized by urinary excretion of xanthine in place of uric acid, hypouricemia, and occasionally the formation of renal xanthine stones. There are two types: type I is due to xanthine dehydrogenase (XDH) deficiency, and type II is due to deficiencies of both XDH and aldehyde oxidase. Autosomal recessive inheritance, caused by mutation in the XDH gene on chromosome 2p in some cases.
Synonym(s): xanthiuria, xanthuria
[xanthine + G. ouron, urine]

xanthinuria

(zăn′thə-no͝or′ē-ə)
n.
1. Excretion of abnormally large amounts of xanthine in the urine.
2. An inherited metabolic disorder resulting from an enzyme deficiency and characterized by urinary excretion of xanthine in place of uric acid.

xanthinuria

(1) Hereditary xanthinuria, see there.
(2) Excess excretion of xanthine in urine.

xan·thi·nu·ri·a

, xanthiuria , xanthuria (zan'thi-nyū'rē-ă, -thē-yūr'ē-ă, zan-thyūr'ē-ă)
1. Excretion of abnormally large amounts of xanthine in the urine.
2. A disorder [MIM*278300], characterized by urinary excretion of xanthine in place of uric acid, hypouricemia, and occasionally the formation of renal xanthine stones.
[xanthine + G. ouron, urine]

xan·thi·nu·ri·a

, xanthiuria , xanthuria (zan'thi-nyū'rē-ă, -thē-yūrē-ă, -thyūrē-ă)
1. Excretion of abnormally large amounts of xanthine in the urine.
2. A disorder characterized by urinary excretion of xanthine in place of uric acid, hypouricemia, and occasionally the formation of renal xanthine stones.
[xanthine + G. ouron, urine]