摘要目的:探讨气相色谱-质谱(gas chromatography-mass spectrometry, GC-MS)联用技术对新生儿重症监护病房(neonatal intensive care unit，NICU)新生儿进行尿液代谢物检测的疾病诊断和监测意义。方法:回顾性分析2010—2018年解放军总医院第七医学中心附属八一儿童医院NICU中代谢病高危患儿利用尿素酶预处理GC-MS法进行尿液有机酸、氨基酸、糖类、多元醇、嘌呤和嘧啶等成分分析的结果及临床资料。结果:共纳入2 208例新生儿，包括足月儿1 224例，早产儿984例，共507例(23.0%，507/2 208)存在代谢异常。确诊包括甲基丙二酸尿症、丙酸尿症、尿素循环障碍、枫糖尿症、戊二酸尿症、苯丙酮尿症、异戊酸尿症、羟脯氨酸尿症、焦谷氨酸尿症和酪氨酸血症在内的10种先天性代谢异常74例(3.4%，74/2 208)，其中足月儿69例(5.6%，69/1 224)，早产儿5例(0.5%，5/984)。足月儿最常见的先天性代谢异常为甲基丙二酸尿症(71.0%，49/69)，早产儿为苯丙酮尿症(2/5)。诊断继发性代谢紊乱433例(19.6%, 433/2 208)，其中足月儿232例(19.0%，232/1 224)，早产儿201例(20.4%，201/984)。NICU中足月儿常见代谢紊乱为乳酸尿伴酮体增加、乳糖尿、酮尿，早产儿为非酮性双羧酸尿、乳酸尿、N乙酰酪氨酸增高及4-羟基苯乳酸增高。结论:GC-MS技术是诊断和监测遗传性或继发性代谢紊乱的有力工具。

abstractsObjective:To study the clinical value of gas chromatography-mass spectrometry (GC-MS) in diagnosis and monitoring of metabolic disorders among neonates admitted to neonatal intensive care unit (NICU).Method:From January 2010 to December 2018, neonates with suspected inborn errors of metabolism (IEM) in NICU received urine analysis using urease pretreated GC-MS for the components of organic acids, amino acids, sugars, polyols, purines and pyrimidines. The results and their clinical data were retrospectively analyzed.Result:A total of 2 208 newborns were included in the study, including 1 224 full-term infants and 984 premature infants. A total of 507 newborns (23.0%, 507/2 208) had metabolic disorders. 74 cases (3.4%, 74/2 208) of 10 types of IEM were identified, including methylmalonic aciduria, propionic aciduria, urea circulation disorder, maple syrup urine disease, glutariduria, phenylketonuria, isovalericaciduria, hydroxyprolinuria, pyroglutinuria, and tyrosinemia. Among the 74 infants of IEM, 69 were full-term (5.6%, 69/1 224) and 5 were preterm (0.5%, 5/984). The most common IEM was methylmalonic aciduria (71.0%) in full term infants and phenylketonuria (2/5) in preterm infants. Secondary metabolic disorders were diagnosed in 433 infants (19.6%, 433/2 208), including 232 full-term infants (19.0%, 232/1 224) and 201 preterm infants (20.4%, 201/984). Full-term infants in NICU had metabolic disorders including lactic acid urine with increased ketone body, lactosuria and ketonuria, while preterm infants had non-ketone dicarboxyuria, lactic acid urine and increased N-acetyl tyrosine and 4-hydroxyphenyllactic acid. The differences between full-term and preterm infants were statistically significant.Conclusion:GC-MS is a powerful tool for the diagnosis and monitoring of inherited and secondary metabolic disorders.