串联质谱检测苯丙氨酸浓度在筛选新生儿苯丙酮尿症中的应用

探讨串联质谱法(MS/MS)在检测苯丙氨酸浓度在诊断新生儿遗传代谢性疾病——苯丙酮尿症中的临床应用价值。利用MS/MS分析了9000 例新出生婴儿全血标本中苯丙氨酸(Phe)和酪氨酸(Tyr)的浓度,计算两者的比值。MS/MS分析的Phe的线性范围为25.3~898.5 mol/L, Phe的平均回收率为97.8%, 批内变异系数(CV)为3.85%,批间变异系数CV为4.53%；Tyr的线性范围为39.60~260.07 mol/L, Tyr的平均回收率为96.5%,批内变异系数(CV)为4.25%,批间变异系数CV为5.83%。MS/MS法能够比较灵敏,特异的检测血中 Phe和Tyr的浓度,可以满足对新生儿苯丙酮尿症的筛查及诊断的需要,具有极高的临床应用价值。

Application of detection of phenylalanine concentration by tandem mass spectrometry in screening neonatal phenylketonuria

To explore the clinical value of tandem mass spectrometry (MS/MS) in the detection of phenylalanine in the diagnosis of neonatal hereditary metabolic disease phenylketonuria. The concentrations of phenylalanine (Phe) and tyrosine (Tyr) in 9000 newly born infants were analyzed by tandem mass spectrometry (MS/MS) and the ratio of its concentrations was calculated. The linear range of Phe analysis by tandem mass spectrometry (MS/MS) is 25.3-898.5 mol/L, the average recovery of PHe is 97.8%, the intra batch variation coefficient (CV) is 3.85%, the inter batch variation coefficient CV is 4.53%; the linear range of Tyr is 39.60-260.07 mol/L, the average recovery of Tyr is 96.5%, the intra batch variation coefficient (CV) is 4.25%, and the inter batch variation is 4.25%. The difference coefficient CV is 5.83%. The MS/MS method can be more sensitive and specific to detect the concentration of Phe and Tyr in blood. It can meet the needs of screening and diagnosis of phenylketonuria in newborns. It is of high clinical value.