title: Identification of a xanthinuria type I case with mutations of xanthine dehydrogenase in an Afghan child.
abstract: Xanthinuria due to xanthine dehydrogenase (XDH) deficiency is a rare genetic disorder characterized by hypouricemia and the accumulation of xanthine in the urine. We have identified an Afghan girl whose xanthinuria could be classified as type I xanthinuria based on an allopurinol loading test. Three mutations were identified in the XDH gene, 141insG, C2729T (T910M) and C3886T (R1296W). Site-directed mutagenesis followed by expression analysis in Escherichia coli revealed that not only the frame shift mutation 141insG impairs XDH activity, but also the missense mutation C2729T, while C3886T resulted in major residual activity of about 50% of the wild type. In this report, a case of xanthinuria type I with mutations of XDH was identified and characterized by expression studies.
authors.affiliation: Department of Pathophysiology, Tokyo University of Pharmacy and Life Sciences, 1432-1 Horinouchi, Hachiouji-shi, Tokyo 192-0392, Japan.
authors.forename: Makiko
authors.initials: M
authors.lastname: Nakamura
authors.forename: Yamaguchi
authors.initials: Y
authors.lastname: Yuichiro
authors.forename: Jörn Oliver
authors.initials: JO
authors.lastname: Sass
authors.forename: Matsumura
authors.initials: M
authors.lastname: Tomohiro
authors.forename: Karl Otfried
authors.initials: KO
authors.lastname: Schwab
authors.forename: Nishino
authors.initials: N
authors.lastname: Takeshi
authors.forename: Hosoya
authors.initials: H
authors.lastname: Tatsuo
authors.forename: Kimiyoshi
authors.initials: K
authors.lastname: Ichida
mesh_terms: D000346:Afghanistan; D005260:Female; D006801:Humans; D007223:Infant; D008661:Metabolism, Inborn Errors / Q000175:diagnosis / Q000188:drug therapy / Q000201:enzymology*; D020125:Mutation, Missense; D014968:Xanthine Dehydrogenase / Q000172:deficiency / Q000235:genetics* / Q000378:metabolism
chemical_list: D014968:Xanthine Dehydrogenase