xanthinuria


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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

/xan·thin·uria/ (zan″thin-ūr´e-ah)
1. excretion of xanthine in the urine.
2. a hereditary disorder of purine metabolism due to a deficiency of the enzyme xanthine oxidase, with excessive xanthine and hypoxanthine in urine and sometimes xanthine calculi in the urinary tract.

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

[zan′thinyoo͡r′ē·ə]
Etymology: Gk, xanthos + ouron, urine
1 the presence of excessive quantities of xanthine in the urine.
2 a rare disorder of purine metabolism, resulting in the excretion of large amounts of xanthine in the urine because of the absence of an enzyme, xanthine oxidase, that is necessary in xanthine metabolism. This inherited deficiency may cause the development of kidney stones made of xanthine precipitate.

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]

xanthinuria

excess of xanthine in the urine.
References in periodicals archive ?
Xanthine oxidase deficiency is an uncommon cause of pediatric urinary stone formation and classical xanthinuria.
Key words: Urolithiasis; xanthinuria, xanthine dehydrogenase.
Mutational analysis of the xanthine dehydrogenase gene in a Turkish family with autosomal recessive classical xanthinuria.
Xanthine (Xan) may appear in xanthinuria as well as during treatment with allopurinol (2).
Comparison of capillary electrophoretic and liquid chromatographic determination of hypoxanthine and xanthine for the diagnosis of xanthinuria.
However, this will not cause a problem for the detection of patients with xanthinuria or dihydropyrimidine dehydrogenase deficiency because of the high concentrations of these compounds in the urine of such patients.
Xanthinuria can be demonstrated easily in the [sup.
1]H-NMR spectroscopy of urine samples led to the diagnosis in all patients with PNP deficiency, xanthinuria, molybdenum cofactor deficiency, Lesch-Nyhan disease, ADA deficiency, and adenylosuccinate lyase deficiency.
Effect of allopurinol on the xanthinuria in a patient with molybdenum cofactor deficiency.