Article
A rare mutation c.1663G > A (p.A555T) in the MMUT gene associated with mild clinical and biochemical phenotypes of methylmalonic acidemia in 30 Chinese patients.
Orphanet journal of rare diseases - 7 Jan 2021
Liang Lili, Shuai Ruixue, Yu Yue, Qiu Wenjuan, Shen Linghua, Wu Shengnan, Wei Haiyan, Chen Yongxing, Yang Chiju, Xu Peng, Chen Xigui, Zou Hui, Feng Jizhen, Niu Tingting, Hu Haili, Ye Jun, Zhang Huiwen, Lu Deyun, Gong Zhuwen, Zhan Xia, Ji Wenjun, Yu Yongguo, Gu Xuefan, Han Lianshu
Abstract excerpt
BACKGROUND: Methylmalonic acidemia is an inherited organic acid metabolic disease. It involves multiple physiological systems and has variable manifestations. The primary causative gene MMUT carries wide range of mutations, and one of them, c.1663G > A (p.A555T), is considered to be a rare type, which is seen more frequently in Asian than other populations. So far, little is known about the clinical features of...
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