Selective screening of inherited metabolic diseases occurring in neonatal period

Objective To enhance the rate of early diagnosis of inherited metabolic disease(IMD) occurring in neonatal period through selective screening. Methods The dry blood filter papers were tested by tandem mass spectrometry(MS/MS) technology in 416 neonates suspected to be with IMD and 1928 neonates without any clinical symptoms. Results Forty-one(9.86%) of the 416 high risk neonates were diagnosed with 11 kinds of IMD and 6(0.31%) of the 1928 normal neonates were diagnosed with 3 kinds of IMD. Conclusion Early diagnosis of IMD in neonatal period by current available screening techniques is helpful for earlier treatment and better prognosis.