Clinical report on 5 cases of infantile glycogen storage disease Ⅱ and literature review
DAI Xiao-juan
ZHENG Li-ling
ZHANG Jia-xiang
Abstract：A total of 5 children with infantile glycogen storage disease type Ⅱ were treated in Zhangzhou Hospital of Fujian Province from November 2016 to March 2022.Among the 5 cases,3 were male and 2 were female,and the age of onset was less than 1 year.The first symptoms were dyspnea,cardiac hypertrophy,liver enlargement and skeletal muscle weakness.The serum acidus-glucosidase concentration in 4 cases was significantly reduced,with the minimum being 0.28 mol/(L·h).Genetic tests were performed on 5 cases,of which 3 were homozygous missense mutations,1 was heterozygous missense mutations,and 1 was complex heterozygous missense mutations.At the same time,the right ventricular arrhythmia-inducing cardiomyopathy gene CTNNA3 mutation C.2122A＞G paternal source was present.All 5 cases died after being discharged automatically.The median survival time was 11 months(6-11 months).Among the confirmed cases,c.1935C＞A was the most common type of gene mutation,and c.2853G＞A may be a new pathogenic mutation site.
Keywords：glycogen storage disease Ⅱinfantilegene mutationenzyme activityenzyme replacement therapy
Publication Date：2024-03-06
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：6( 235-240 )