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

摘要： 2016年11月至2022年3月福建医科大学附属漳州市医院共收治5例婴儿型糖原贮积病Ⅱ型患儿。5例中男3例，女2例，发病年龄均小于1岁，首发症状主要为呼吸困难、心肌肥厚、肝脏增大及骨骼肌无力。4例血酸性ɑ-葡萄糖苷酶浓度明显降低，最低为0.28 mmol/（L·h）。5例均进行了基因检测，其中3例为纯合错义突变，1例为杂合错义突变，1例为复合杂合错义突变，同时存在有致右室心律失常心肌病基因CTNNA3突变 C.2122A>G父源。5例均自动出院后死亡。中位生存时间为11个月（6~11个月）。确诊病例中基因突变类型以c.1935C>A最常见，c.2853G>A可能是新的致病突变位点。

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