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Article

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

Clinica chimica acta; international journal of clinical chemistry - 1 May 2020

Xu Tao, Xie Xiaobing, Zhang Zhen, Zhao Ningzhi, Deng Yuanfu, Li Ping

Abstract excerpt

Xanthinuria 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...

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PMID: 32067994
DOI: 10.1016/j.cca.2020.02.012

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