Clinical and electroencephalogram characteristics of methylmalonic acidemia with MMACHC and MUT gene mutations

Clinical and electroencephalogram characteristics of methylmalonic acidemia with MMACHC and MUT gene mutations

Abstract Objective This study investigated the clinical, imaging, and electroencephalogram (EEG) characteristics of methylmalonic acidemia (MMA) with nervous system damage as the primary manifestation. Methods From January 2017 to November 2022, patients with nervous system injury as the main clinic...

Full description

Bibliographic Details
Main Authors: Yujun Yuan, Ying Ma, Qiong Wu, Liang Huo, Chun-Feng Liu, Xueyan Liu
Format: Article
Language:English
Published: BMC 2024-02-01
Series:BMC Pediatrics
Subjects:
Methylmalonic academia
Epilepsy
MRI
Developmental delay
EEG
Online Access:https://doi.org/10.1186/s12887-024-04559-8

Internet

https://doi.org/10.1186/s12887-024-04559-8

Similar Items