谢彩连 陈锦国 蔡小娟 钟玉杭

【摘要】 目的：運用串联质谱技术分析东莞地区早产儿氨基酸代谢水平的变化特点。方法：选取2019年1-12月于东莞市出生的3 381例早产儿（早产儿组）和3 845例正常足月儿（正常足月儿组），并将早产儿组按不同出生体质量分为极低出生体重儿、低出生体重儿和单纯早产儿。采用串联质谱技术检测滤纸干血斑中9种氨基酸的浓度。比较早产儿与正常足月儿的氨基酸代谢水平的差异，分析三组不同出生体质量早产儿氨基酸代谢水平的变化特点。结果：早产儿组丙氨酸（Ala）、甘氨酸（Gly）、脯氨酸（Pro）、缬氨酸（Val）浓度均明显低于正常足月儿组，而瓜氨酸（Cit）、甲硫氨酸（Met）、苯丙氨酸（Phe）、酪氨酸（Tyr）浓度均明显高于正常足月儿组（P<0.05）。早产儿组中不同出生体质量早产儿9种氨基酸代谢水平比较，差异均有统计学意义（P<0.05）。其中Ala、Gly、Tyr浓度随着出生体质量的增加而升高，Cit、Phe浓度随着出生体质量的增加而降低。采用百分位数法，选择双侧限值的可信区间（P2.5～P97.5）建立早产儿的氨基酸参考范围。结论：早产儿氨基酸代谢水平与正常足月儿存在明显差异，早产儿不同出生体质量可影响其体内氨基酸代谢浓度的分布。建议新生儿筛查实验室根据不同出生体质量建立早产儿氨基酸的参考范围，同时为临床早产儿合理的营养补充提供参考依据。

【关键词】 早产儿 氨基酸 串联质谱 代谢水平

Analysis of Amino Acid Metabolism Level of Premature Infants in Dongguan Area/XIE Cailian， CHEN Jinguo， CAI Xiaojuan， ZHONG Yuhang. //Medical Innovation of China， 2021， 18（33）： 0-086

[Abstract] Objective： To analyze the changes in amino acid metabolism of preterm infants in Dongguan by tandem mass spectrometry. Method： A total of 3 381 preterm infants （preterm infants group） and 3 845 normal term infants （normal term infants group） who born in Dongguan City from January to December 2019 were selected， the preterm infants group was divided into very low birth weight infant， low birth weight infant and simple premature infant according to different birth weights. The concentration of 9 amino acids in dried blood spots on filter paper was detected by tandem mass spectrometry. The amino acid differences between preterm infants group and normal term infants group were compared， and the amino acid metabolism characteristics of three groups of preterm infants with different birth weights were analyzed. Result： The concentrations of alanine （Ala）， glycine （Gly）， proline （Pro） and valine （Val） in preterm infants group were significantly lower than those in normal term infants group， while the concentrations of citrulline （Cit）， methionine （Met）， phenylalanine （Phe） and tyrosine （Tyr） were significantly higher than those in normal term infants group （P<0.05）. The comparison of 9 amino acid metabolism levels of preterm infants with different birth weights in preterm infants group were statistically significant （P<0.05）. Among them， the concentrations of Ala， Gly， and Tyr increased with the increase of birth weight， while the concentrations of Cit and Phe decreased with the increase of birth weight. The percentile method was used to select confidence interval （P2.5-P97.5） of the two-sided limit to establish the amino acid reference range for preterm infants. Conclusion： The amino acid metabolism level of preterm infants is significantly different from that of normal term infants， different birth weights of preterm infants can affect the amino acid metabolism concentration in their bodies. It is recommended that newborn screening laboratories establish a reference range for preterm infants based on different birth weights， and provide a reference for reasonable nutritional supplementation for clinical preterm infants.

[Key words] Premature infants Amino acids Tandem mass spectrometry Metabolic level

First-author’s address： Dongguan Maternal and Child Health Hospital， Dongguan 523000， China

doi：10.3969/j.issn.1674-4985.2021.33.021

遺传代谢病是指由于基因突变导致维持机体正常代谢所必需的某些酶、受体或载体等的缺乏，从而导致机体代谢紊乱继而出现相应临床症状的一类疾病[1]。……