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・ Xanthias (genus)
・ Xanthichthys
・ Xanthichthys caeruleolineatus
・ Xanthichthys mento
・ Xanthichthys ringens
・ Xanthidae
・ Xanthidium
・ Xanthika
・ Xanthina
・ Xanthine
・ Xanthine dehydrogenase
・ Xanthine oxidase
・ Xanthine oxidase inhibitor
・ Xanthine phosphoribosyltransferase
・ Xanthinol
Xanthinuria
・ Xanthiosite
・ Xanthippe
・ Xanthippe (disambiguation)
・ Xanthippe (genus)
・ Xanthippe (mythology)
・ Xanthippe's shrew
・ Xanthippus
・ Xanthippus (disambiguation)
・ Xanthippus of Carthage
・ Xanthiria
・ Xanthirinopsis
・ Xanthis
・ Xanthisma
・ Xanthisma coloradoense


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Xanthinuria : ウィキペディア英語版
Xanthinuria

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.
==Causes==
Type I xanthinuria can be caused by a deficiency of xanthine dehydrogenase, which is an enzyme necessary for converting xanthine to uric acid. Type II xanthinuria and molybdenum cofactor deficiency lack one or two other enzyme activities in addition to xanthine oxidase.〔Ichida K, Amaya Y, Kamatani N, Nishino T, Hosoya T, Sakai O. "Identification of two mutations in human xanthine dehydrogenase gene responsible for classical type I xanthinuria". J Clin Invest. 99(10):2391-7. PMID 9153281〕

抄文引用元・出典: フリー百科事典『 ウィキペディア(Wikipedia)
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