Article
Clinical outcomes of patients with mut-type methylmalonic acidemia identified through expanded newborn screening in China.
Human genomics - 29 Jul 2024
Ling Shiying, Wu Shengnan, Shuai Ruixue, Yu Yue, Qiu Wenjuan, Wei Haiyan, Yang Chiju, Xu Peng, Zou Hui, Feng Jizhen, Niu Tingting, Hu Haili, Zhang Huiwen, Liang Lili, Wang Yu, Chen Ting, Xu Feng, Gu Xuefan, Han Lianshu
Abstract excerpt
BACKGROUND: Isolated methylmalonic acidemia, an autosomal recessive disorder of propionate metabolism, is usually caused by mutations in the methylmalonyl-CoA mutase gene (mut-type). Because no universal consensus was made on whether mut-type methylmalonic acidemia should be included in newborn screening (NBS), we aimed to compare the outcome of this disorder detected by NBS with that detected clinically and...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.