• Qi Feng, Meng Qiao Zhang, Chun Xiao Ba, and Ying Qian Zhang.
• Hebei North University, Zhangjiakou, Hebei, China.
• Medicine (Baltimore). 2024 Aug 30; 103 (35): e39534e39534.

ObjectiveClinical and genetic mutation analysis was performed on 5 infantile glycogen storage disease type II children in Chinese mainland.MethodsClinical data of 5 children with infantile-type glycogen storage disease type II due to the acidic α-glucosidase (GAA) gene variants diagnosed and treated at Hebei Provincial Children's Hospital from January 2018 to April 2020 were retrospectively analyzed.ResultsAmong the 5 cases, 1 was female and 4 were male, and the age at first diagnosis was from 2 months to 7 months. The first symptoms of all 5 cases showed progressive muscle weakness, hypotonia, and motor developmental backwardness, and all of them had abnormally elevated creatine kinase, and the echocardiograms suggested different degrees of myocardial hypertrophy, with ejection fractions ranging from 44% to 67%. Analysis of GAA gene variations: all 5 cases were compound heterozygous, and a total of 12 variant loci were detected, of which c.2024_2026delACA, c.2853G > A, c.1124G > T, c.574G > A, c.2509C > T, and c.2013G > A were new mutations that had not been reported.FollowupAll 5 children died before 1 year of age, and the age of death ranged from 7 months to 11.5 months, with a mean survival time of 9.8 months.ConclusionPeripheral blood GAA gene testing and alpha-glucosidase enzyme activity testing is an effective method for diagnosing this disease.Copyright © 2024 the Author(s). Published by Wolters Kluwer Health, Inc.

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