Abstract: Objective To explore the application of gas chromatography mass spectrometry (GC/MS) in children with high risk of inherited metabolic disease. Methods From March, 2010 to November, 2015, 119 children suspected with inherited metabolic disease were included. The urinary organic acid was detected with GC/MS, and related diseases were screened. Results Seventeen children (14.29%) were positive with inherited metabolic disease, in which 16 cases (94.12%) manifested with development retardation. 20 children (16.81%) were probable positive. Conclusion GC/MS is effective in screening children with high risk of inherited metabolic disease, which can provide basis for further diagnosis.

Key words: inherited metabolic disease, gas chromatography mass spectrometry, organic acid, screening