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

摘要： 目的 采用串联质谱技术分析足月和早产新生儿(32~37孕周)的血液氨基酸和酰基肉碱水平,试图从代谢角度探究不同阶段出生的新生儿的发育情况并建立足月和早产儿的正常值范围。方法 选择2013年1月-2015年12月入住新生儿重症监护病房的1 652例早产新生儿以及524例实施出生筛查的正常足月新生儿为研究对象,采集干血滤纸片样品进行串联质谱分析。结果 足月、早产儿的多种氨基酸和酰基肉碱水平的差异有统计学意义(P<0.01),其中12种氨基酸足月组血液中浓度显著高于早产组,6种氨基酸足月组血液中浓度显著低于早产组,其中6种酰基肉碱足月组血液中浓度显著高于早产组, 20种酰基肉碱足月组血液中酰基肉碱浓度显著低于早产组。结论 正常足月和早产儿的氨基酸谱和酰基肉碱谱存在较大差异,在实施先天性代谢病筛查时需建立各年龄阶段的正常值范围,不同年龄阶段血液中氨基酸和酰基肉碱的变化反映新生儿的发育程度和营养需求。

关键词: 代谢谱, 新生儿, 串联质谱