关键词: 糖原贮积病Ⅱ型, 婴儿型, 基因突变, 酶活性, 酶替代治疗

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.

Key words: glycogen storage diseaseⅡ, infantile, gene mutation, enzyme activity, enzyme replacement therapy