Abstract: 　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.

Key words: 　glycogen accumulation disease type IV;　GBE1 gene;　genetic examination;　liver biopsy