关键词: 戊二酸尿症Ⅰ型；　戊二酰辅酶 A 脱氢酶；　基因；　血串联质谱；　尿气相色谱质谱

Abstract: 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.

Key words: glutaric aciduria type Ⅰ;　glutaryl-CoA dehydrogenase;　gene;　blood tandem mass spectrometry;