目的　探讨糖原累积症Ib型SLC37A4基因突变状况及基因型与临床表型的关系。 方法　回顾分析3例糖原 累积症Ib型患儿的临床资料及SLC37A4基因检测结果。结果　3例患儿，男2例，女1例，年龄分别为6、 9、16岁，临床表现 为肝大、空腹低血糖、高乳酸血症、高脂血症和粒细胞减少。外周血DNA直接测序分析SLC37A4基因的6个等位基因，共 检测出4种突变，包括错义突变2个，p. Leu23Arg、p.Pro191Leu，剪切突变1个，c.870+5G>A，缺失突变1个，c.1042_1043 del CT。 3例患儿的基因型分别为，p.Pro191Leu, p.Pro191Leu；p. Leu23Arg, c.870+5G>A；p.Pro191Leu, p.Leu347ValfsX53。 结论　3例糖原累积症Ib型中国患者中共检出4种突变，均为已知突变；其中p.Pro191Leu为最常见突变；不排除p.Gly149Glu 纯合突变与反复感染相关。

Objectives　To analyze SLC37A4 gene mutations in glycogen storage disease type Ib patients and to investigate the correlation between genotype and phenotype. Methods　The clinical data and SLC37A4 gene detection results of 3 cases of glycogen storage disease type Ib were analyzed retrospectively. Results　Two males and one female aged 6 years, 9 years, and 16 years respectively were presented with hepatomegaly, fasting hypoglycemia, slactic academia, hyperlipidemia, and granulocytopenia. The analysis of 6 alleles in SLC37A4 gene by  direct sequencing of peripheral blood DNA found 4 mutations, including 2 missense mutation (p. Leu23Arg and p.Pro191Leu), one shear mutation (c.870+5G>A), and one deletion mutation (c.1042_1043 del CT). The genotypes of these 3 cases were p.Pro191Leu, p.Pro191Leu；p. Leu23Arg, c.870+5G>A；p.Pro191Leu, p.Leu347ValfsX53 respectively. Conclusions　There were 4 mutations detected among these 3 cases of glycogen storage disease type Ib. All of those were known mutations. The most common mutation was p.Pro191Leu. It can not be excluded that P.Gly149Glu homozygous mutation is associated with repeated infections.