关键词: 代谢谱, 新生儿, 串联质谱

Abstract: Objective To measure the amino acid and acylcarnitine in blood of full-term and premature newborns by LC-MS/MS,establish the normal range of different gestational ages for diagnosis of inborn error of metabolism,and explore the development of newborns at the metabolic level. Methods A total of 1 652 premature newborns in hospital from January 2013 to November 2015 were tested.524 normal full-term newborns were collected for the control group.The dry blood spot samples were collected and detected by tandem mass spectrometry for amino acids and acylcarnitines analysis. Results There were significant differences in the normal full-term and premature newborns for most of the amino acids and acylcarnitines (P<0.01).Twelve amino acids and six acylcarnitines levels of the the normal full-term newborns were significantly higher than those of the premature newborns.Six amino acids and twenty acylcarnitines levels of the the normal full-term newborns were significantly lower than those of the premature newborns. Conclusions The significantly difference of different ages (full-term and premature) is evaluated at the metabolic level.The normal range of different ages is established for diagnosis of inborn error of metabolism.The development of newborns is explored at the metabolic level.

Key words: metabolic profiling, newborn, premature, tandem mass spectrometry