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Identification of a xanthinuria type I case with mutations of xanthine dehydrogenase in an Afghan child

  • 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.

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Metadaten
Document Type:Article
Language:English
Author:Makiko Nakamura, Yamaguchi Yuichiro, Jörn Oliver Sass, Matsumura Tomohiro, Karl Otfried Schwab, Nishino Takeshi, Hosoya Tatsuo, Kimiyoshi Ichida
Parent Title (English):Clin Chim Acta. (Clinica Chimica Acta)
Volume:414
First Page:158
Last Page:160
ISSN:0009-8981
DOI:https://doi.org/10.1016/j.cca.2012.08.011
Pubmed Id:http://www.ncbi.nlm.nih.gov/pubmed?term=22981351
Publisher:Elsevier Science
Publication year:2012
Departments, institutes and facilities:Institut für funktionale Gen-Analytik (IFGA)
Dewey Decimal Classification (DDC):6 Technik, Medizin, angewandte Wissenschaften / 61 Medizin und Gesundheit / 610 Medizin und Gesundheit
Entry in this database:2018/08/18