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Pathway Description
Xanthinuria Type II
Homo sapiens
Disease Pathway
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
Lehninger, A.L. Lehninger principles of biochemistry (4th ed.) (2005). New York: W.H Freeman.
Salway, J.G. Metabolism at a glance (3rd ed.) (2004). Alden, Mass.: Blackwell Pub.
Garcia-Gil M, Camici M, Allegrini S, Pesi R, Petrotto E, Tozzi MG: Emerging Role of Purine Metabolizing Enzymes in Brain Function and Tumors. Int J Mol Sci. 2018 Nov 14;19(11). pii: ijms19113598. doi: 10.3390/ijms19113598.
Pubmed: 30441833
Davies O, Mendes P, Smallbone K, Malys N: Characterisation of multiple substrate-specific (d)ITP/(d)XTPase and modelling of deaminated purine nucleotide metabolism. BMB Rep. 2012 Apr;45(4):259-64.
Pubmed: 22531138
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