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

(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]
References in periodicals archive ?
Xanthine oxidase deficiency is an uncommon cause of pediatric urinary stone formation and classical xanthinuria. A ten-month-old boy presented with a seven-month history of nausea, vomiting, discomfort during urination, gross hematuria and passage of stones.
Key words: Urolithiasis; xanthinuria, xanthine dehydrogenase.
Asymptomatic hereditary xanthinuria: a case report.
Mutational analysis of the xanthine dehydrogenase gene in a Turkish family with autosomal recessive classical xanthinuria. Nephrol Dial Transplant 2003;18:2278-836.
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. J Chromatogr A 1996;730:329-31.
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. In classical xanthinuria, a deficiency of XDH (EC 1.1.1.204) exists.
Xanthinuria, hypouricemia, and increased urinary sulfite, S-sulfocysteine, and thiosulfate concentrations are characteristic for the disease.
In the patients with inborn errors of purine metabolism, [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.