目的　探讨GBE1基因突变的糖原累积病Ⅳ型（GSD IV）患儿的临床特点及其家系的基因突变情况。方法 分析1例GSD IV 患儿的临床表现、肝脏病理结果及其父母的全外显子基因测序情况，并进行文献复习。结果　患儿，男， 1岁10个月，肝脾肿大6月余伴发热7天；肝脏组织病理示慢性肝损伤，不能除外遗传代谢病。全基因外显子检测示患 儿存在2种新的GBE1基因的杂合突变，分别为来自父亲的c.1694G>A杂合突变（致病性变异）和来自母亲的c.218A>G 杂合突变（疑似致病性变异）。 结合患儿临床表现、病理及基因检测结果确诊为肝型GSD IV。结论　新发现GEB1基因 c.1694G>A的致病性杂合突变，丰富了GSD IV型在中国人群的突变谱。

　Objective　To explore the clinical characteristics of glycogen accumulation disease type IV (GSD IV) caused by GBE1 gene mutation in a child and the genetic mutations in the families. Methods　The clinical manifestations, liver pathological results and parental all-exon gene sequencing of a child with GSD IV were analyzed and therelated literature was reviewed. Results A 1-year-and 10-month-old boy suffered from hepatosplenomegaly for more than 6 months and fever for 7 days. Liver histopathology showed chronic liver injury, and genetic metabolic disease could not be excluded. Whole-genome exon detection showed that the child had two new heterozygous mutations in GBE1 gene, the heterozygous mutation from the father (c.1694G>A, pathogenic mutation) and the heterozygous mutation from the mother (c.218A>G, suspected pathogenic mutation). Combined with the clinical manifestations, pathology and genetic test results, the patient was diagnosed with hepatic GSD IV. Conclusions The newly discovered pathogenic heterozygous mutationof GEB1 gene,C.1694G>A,enriches the mutation spectrum of GSD IV in Chinese population.