A novel mutation in xanthine dehydrogenase in a case with xanthinuria in Hunan province of China

Publication date: Available online 15 February 2020Source: Clinica Chimica ActaAuthor(s): Tao Xu, Xiaobing Xie, Zhen Zhang, Ningzhi Zhao, Yuanfu Deng, Ping LiAbstractXanthinuria is a rare genetic metabolic disorder, the biochemical mechanism of xanthinuria is the disturbance of purine to uric acid metabolism due to the deficiency of xanthine dehydrogenase/xanthine oxidase (XDH/XO) and aldehyde oxidase 1 (AOX1). Xanthinuria has large clinical variability and only about half of all patients have urolithiasis. In this article, we present one xanthinuria case from an unrelated family, which diagnosed by clinical, biochemical and finally confirmed by molecular genetics. One mutation in XDH gene c.2737C>T (p.R913W) and another mutation in SEPT9 gene (c.655C>T (p.R219W)) were identified. To our knowledge, this is the first time that these novel mutations reported in the xanthinuria patients.
Source: Clinica Chimica Acta - Category: Laboratory Medicine Source Type: research