Combined Malonic and Methylmalonic Aciduria Due to ACSF3 Variants Results in Benign Clinical Course in Three Chinese Patients

• Main Authors: Ping Wang (Author), Jianbo Shu (Author), Chunyu Gu (Author), Xiaoli Yu (Author), Jie Zheng (Author), Chunhua Zhang (Author), Chunquan Cai (Author)
• פורמט: ספר
• יצא לאור: Frontiers Media S.A., 2021-11-01T00:00:00Z.
• נושאים: article
• גישה מקוונת: Connect to this object online.

Introduction: Combined malonic and methylmalonic aciduria (CMAMMA) is a rare metabolic disease caused by biallelic variants in ACSF3 gene. The clinical phenotype is highly heterogeneous in this disorder, ranging from asymptomatic to severe symptoms. No cases with CMAMMA were reported in China.Materi...