TY - JOUR AU - Liang, Lili AU - Shuai, Ruixue AU - Yu, Yue AU - Qiu, Wenjuan AU - Shen, Linghua AU - Wu, Shengnan AU - Wei, Haiyan AU - Chen, Yongxing AU - Yang, Chiju AU - Xu, Peng AU - Chen, Xigui AU - Zou, Hui AU - Feng, Jizhen AU - Niu, Tingting AU - Hu, Haili AU - Ye, Jun AU - Zhang, Huiwen AU - Lu, Deyun AU - Gong, Zhuwen AU - Zhan, Xia AU - Ji, Wenjun AU - Yu, Yongguo AU - Gu, Xuefan AU - Han, Lianshu PY - 2021 DA - 2021/01/07 TI - 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 JO - Orphanet Journal of Rare Diseases SP - 22 VL - 16 IS - 1 AB - 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 patients carrying this mutation. In the present study, we aimed to define the clinical and biochemical features of the patients with this genotype. SN - 1750-1172 UR - https://doi.org/10.1186/s13023-020-01632-0 DO - 10.1186/s13023-020-01632-0 ID - Liang2021 ER -