Xanthinuria

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 = DiseasesDB2|29821
MeshName =
MeshNumber =

Xanthinuria, also known as xanthine oxidase deficiency, is a rare genetic disorder causing the accumulation of xanthine. It is caused by a deficiency of the enzyme xanthine oxidase.

It was first formally characterized in 1954. [cite journal
author = Dent CE, Philpot GR
title = Xanthinuria, an inborn error (or deviation) of metabolism
journal = Lancet
year = 1954
volume = 266
issue = 6804
pages= 182–5 |pmid=13118765
doi =10.1016/S0140-6736(54)91257-X ]

Causes

It can be caused by a deficiency of xanthine oxidase, which is an enzyme necessary for converting xanthine to uric acid. cite journal |author=Ichida K, Amaya Y, Kamatani N, Nishino T, Hosoya T, Sakai O |title=Identification of two mutations in human xanthine dehydrogenase gene responsible for classical type I xanthinuria |journal=J. Clin. Invest. |volume=99 |issue=10 |pages=2391–7 |year=1997 |pmid=9153281 |pmc=508078 |doi=10.1172/JCI119421]

Presentation

Sufferers have unusually high concentrations of xanthine in their blood and urine, which can lead to health problems such as renal failure and xanthine kidney stones, one of the rarest types of kidney stones.

Treatment

There is no specific treatment beyond maintaining a high fluid intake and avoiding foods that are high in purine.

References


*cite journal
author = Kojima T., Nishina T., Kitamura M., Hosoya T., Nishioka K.
title = Biochemical studies on the purine metabolism of four cases with hereditary xanthinuria
journal= Clin Chim Acta.
year= 1984
volume = 137
issue = 2
pages= 189–98
pmid = 6423323
doi = 10.1016/0009-8981(84)90179-7

*cite journal
author = Hille R.
title = Structure and Function of Xanthine Oxidoreductase
journal= European Journal of Inorganic Chemistry
year = 2006
volume = 2006
issue = 10
pages= 1905–2095
doi = 10.1002/ejic.200600087

External links

*GPnotebook|644546576
*RareDiseases|5621|Xanthinuria


Wikimedia Foundation. 2010.

Игры ⚽ Нужно сделать НИР?

Look at other dictionaries:

  • 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 — 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… …   Medical dictionary

  • 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

Share the article and excerpts

Direct link
… Do a right-click on the link above
and select “Copy Link”