High‐risk screening for late‐onset Pompe disease in China: An expanded multicenter study

• Published in: Journal of inherited metabolic disease Vol. 48; no. 1; pp. e12793 - n/a
• Main Authors: Jiao, Kexin, Zhu, Bochen, Chang, Xueli, Guo, Junhong, Fu, Jun, Song, Xueqin, Yu, Xuen, Zhang, Xiaoge, Dong, Jihong, Yan, Wang, Luan, Xinghua, Wang, Zhiqiang, Han, Hong, Du, Lijun, Yu, Liqiang, Zhang, Yali, Zhang, Jingjing, Chen, Yan, Hu, Jing, Zhao, Zhe, Kang, Juan, Tan, Song, Wang, Zhiyun, Mao, Shanshan, Qian, Fangyuan, Luo, Ronghua, Liu, Changxia, Huang, Zhengyu, Li, Gang, Li, Xia, Luo, Lijun, Li, Dong, Zhou, Yuanlin, Hu, Xiafei, Yu, Xuefan, Shi, Yongguang, Jiang, Jianming, Zhang, Jialong, Cheng, Nachuan, Wang, Ningning, Xia, Xingyu, Yue, Dongyue, Gao, Mingshi, Xi, Jianying, Luo, Sushan, Lu, Jiahong, Zhao, Chongbo, Ke, Qing, Ma, Mingming, Zhu, Wenhua
• Format: Journal Article
• Language: English
• Published: Hoboken, USA John Wiley & Sons, Inc 01.01.2025; Blackwell Publishing Ltd
• Subjects: acid alpha‐glucosidase; Adolescent; Adult; Age; Age of Onset; alpha-Glucosidases - blood; alpha-Glucosidases - genetics; Child; Child, Preschool; China - epidemiology; Creatine; Creatine kinase; Creatine Kinase - blood; Diagnosis; Dried Blood Spot Testing - methods; dried blood spots; Female; Genetic Testing - methods; Glycogen Storage Disease Type II - blood; Glycogen Storage Disease Type II - diagnosis; Glycogen Storage Disease Type II - genetics; high‐risk screening; Humans; hyperCKemia; Infant; Kinases; late‐onset Pompe disease; Male; Mass Screening - methods; Mass spectroscopy; Middle Aged; muscle weakness; Muscles; Mutation; Population studies; respiratory distress; Respiratory function; Retrospective Studies; Tandem Mass Spectrometry; Young Adult; China; tandem mass spectrometry; hyperCKemia; late‐onset Pompe disease; acid alpha‐glucosidase; muscle weakness; high‐risk screening; dried blood spots; respiratory distress

Late‐onset Pompe disease (LOPD) is caused by a genetic deficiency of the lysosomal enzyme acid alpha‐glucosidase (GAA), leading to progressive limb‐girdle weakness and respiratory impairment. The insidious onset of non‐specific early symptoms often prohibits timely diagnosis. This study aimed to val...