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Pathway Description
Xanthinuria Type II
Homo sapiens
Disease Pathway
Created: 2013-08-29
Last Updated: 2022-12-02
Xanthinuria Type II is a rare inborn error of metabolism (IEM) and autosomal recessive disorder and caused by a defective xanthine dehydrogenase. Xanthine dehydrogenase catalyzes the conversion of hypoxanthine into xanthine and conversion of xanthine into uric acid. This disorder is characterized by a large accumulation of xanthine and hypoxanthine; as well as dissipation of uric acid. Symptoms of the disorder include blood in the urine, recurrent urinary tract infections and abdominal pain. It is estimated that xanthinuria types I and II affects 1 in 69,000 individuals.
References
Xanthinuria Type II References
[Metagen: XANTHINURIA TYPE II](http://metagene.de/program/d.prg?id_d=483)
[OMIM: 603592](http://omim.org/entry/603592})
Borucka B, Runowski D, Safranow K, Olszewska M, Jakubowska K, Chlubek D: [Xanthinuria type I as the cause of nephrolithiasis in 17-years old girl]. Pol Merkur Lekarski. 2010 Aug;29(170):111-4.
Pubmed: 20842824
Ichida K, Hosoya T: [Classical xanthinuria (type I and II)]. Ryoikibetsu Shokogun Shirizu. 1998;(18 Pt 1):470-3.
Pubmed: 9590104
Purine Metabolism References
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