Metabolic dysfunction related to specific genetic variant sites of methylmalonic acidemia
Haijuan Zhi, Yuxin Deng, Yi Ding, Ting Chen, Bohui Zhou, Yue Cao, Siyu Chang, Xia Zhan, Feng Xu, Lili Hao, Lili Liang, Wenjuan Qiu, Huiwen Zhang, Xuefan Gu, Lianshu Han
The paper investigates metabolic differences in methylmalonic acidemia subtypes caused by specific genetic variants, identifying enriched metabolites associated with each mutation.
bioRxiv · Dec 17, 2025 · PreprintMolecular Biology