目的　探讨戊二酸尿症Ⅰ型的基因突变特点。方法　回顾分析1例戊二酸尿症Ⅰ型患儿的临床资料及基因 检测结果。结果　女性患儿， 1岁11个月，主要表现为腹泻及抽搐。血戊二酰肉碱水平（0.78 μmol/L）及尿戊二酸显著增高。 二代测序发现GCDH基因两处变异，c.271+1G>A（IVS4+1G>A），为父源性剪切变异；c.938G>A为母源性错义变异。两 处变异的致病性均已有文献报道，但均是国内首次报道。结论　扩充了国内戊二酸尿症Ⅰ型的基因突变谱。

Objective　To explore the characteristics of gene mutation of glutaric aciduria typeⅠ. Method　The clinical data and gene test results of glutaric aciduria type Ⅰ in a child were retrospectively analyzed. Results　A 1-year-11-monthold girl presented with diarrhea and convulsion. The patient had an elevated glutaryl carnitine level of 0.78 μmol/L and high urinary excretion of glutaric acid. Two pathogenic mutations in the GCDH gene were identified by second-generation sequencing. The splicing mutation of c.271+1G>A（IVS3+1G>A）is inherited from her father, while the missense mutation of c.938G>A is inherited from her mother. Pathogenicity of the two mutations has been already reported before, but it was first reported domestically. Conclusion　The gene mutation spectrum of glutaric aciduria typeⅠin China has been expanded.