Xanthinuria
An inherited metabolic disorder in which there is deficiency of an enzyme needed to process xanthine, a substance found in caffeine, theobromine, theophylline, and related substances. Unchecked, xanthinuria can lead to kidney stone formation and urinary tract disease (due to xanthine stones) and to muscle disease (due to deposits of xanthine in the muscle). Treatment is by avoiding foods and drinks containing xanthine derivatives, such as coffee, tea, and colas. The enzyme that is lacking in xanthinuria is xanthine dehydrogenase. The disorder is an autosomal recessive trait. The gene responsible for xanthinuria is on an autosome, a nonsex chromosome (chromosome 2p23-p22). Both parents of a child with xanthinuria are normal but carry one xanthinuria gene (the xanthinuria gene is recessive to the corresponding normal gene). Their affected child received both of their xanthinuria genes.
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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 deficiency (XDH), and type II is due to deficiencies of both xanthine dehydrogenase and aldehyde oxidase. Autosomal recessive inheritance, caused by mutation in the XDH gene on chromosome 2p in some cases. SYN: xanthiuria, xanthuria. [xanthine + G. ouron, urine]

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n.
excess of the purine derivative xanthine in the urine, usually the result of an inborn defect of metabolism. It is both rare and symptomless.

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xan·thin·uria (zan″thin-uґre-ə) any of several disorders of purine metabolism in which deficiency of xanthine dehydrogenase (XDH) activity results in urinary secretion of excessive xanthine and a tendency to formation of xanthine calculi in the urinary tract. Xanthinuria type I is an autosomal recessive disorder caused by mutation in the XDH gene (locus 2p23-p22), which encodes xanthine dehydrogenase; xanthinuria type II is a combined deficiency of both xanthine dehydrogenase and aldehyde oxidase activity. Xanthinuria is also a feature of molybdenum cofactor deficiency (q.v.).

Medical dictionary. 2011.

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  • xanthinuria — xanthinuria. См. ксантинурия. (Источник: «Англо русский толковый словарь генетических терминов». Арефьев В.А., Лисовенко Л.А., Москва: Изд во ВНИРО, 1995 г.) …   Молекулярная биология и генетика. Толковый словарь.

  • Xanthinuria — DiseaseDisorder infobox Name = Xanthinuria ICD10 = ICD10|E|79|8|e|70 ICD9 = ICD9|277.2 ICDO = Caption = Xanthine OMIM = 278300 OMIM mult = OMIM2|603592 MedlinePlus = eMedicineSubj = ped eMedicineTopic = 2452 DiseasesDB = 14194 DiseasesDB mult =… …   Wikipedia

  • xanthinuria — ▪ pathology       rare inherited disorder of purine metabolism that results from a deficiency in the enzyme xanthine oxidase. Normally this enzyme breaks down the purine base xanthine to uric acid, which is then excreted. In the absence of the… …   Universalium

  • xanthinuria — noun a) An abnormally high level of xanthine in ones urine. b) The genetic disorder that causes such …   Wiktionary

  • xanthinuria — n. excess of the purine derivative xanthine in the urine, usually the result of an inborn defect of metabolism. It is both rare and symptomless …   The new mediacal dictionary

  • ксантинурия — (xanthinuria; ксантин + греч. uron моча) наследственная болезнь, обусловленная недостаточностью фермента ксантиноксидазы и характеризующаяся нарушением пуринового обмена; проявляется рецидивирующей гематурией и болями в поясничной области,… …   Большой медицинский словарь

  • Ксантинури́я — (xanthinuria; ксантин + греч. uron моча) наследственная болезнь, обусловленная недостаточностью фермента ксантиноксидазы и характеризующаяся нарушением пуринового обмена; проявляется рецидивирующей гематурией и болями в поясничной области,… …   Медицинская энциклопедия

  • ксантинурия — xanthinuria ксантинурия. НЗЧ, связанное с наследственным дефектом активности фермента ксантиноксидазы и обусловливающее избыток ксантина <xanthine> в моче, что повышает вероятность образования почечных камней. (Источник: «Англо русский… …   Молекулярная биология и генетика. Толковый словарь.

  • MOCOS — Molybdenum cofactor sulfurase, also known as MOCOS, is a human gene.cite web | title = Entrez Gene: MOCOS molybdenum cofactor sulfurase| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene Cmd=ShowDetailView TermToSearch=55034| accessdate = ]… …   Wikipedia

  • Xanth- (prefix) — A colorful prefix relating to a yellow color. Xanth is related to the word xanthic which has its roots in the Greek word xanthos which means yellow. A number of medical terms trace to xanthos including, for example: {{}}Xanthelasma: A condition… …   Medical dictionary

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