利用苯丙氨酸/酪氨酸比值的电喷雾串联质谱法对新生儿高苯丙氨酸血症进行鉴别诊断的灵敏度。

Sensitivity of electrospray-tandem mass spectrometry using the phenylalanine/tyrosine-ratio for differential diagnosis of hyperphenylalaninemia in neonates.

作者信息

Schulze A, Kohlmueller D, Mayatepek E

机构信息

Division of Metabolic Diseases, University Children's Hospital, Heidelberg, Germany.

出版信息

Clin Chim Acta. 1999 May;283(1-2):15-20. doi: 10.1016/s0009-8981(99)00016-9.

DOI:10.1016/s0009-8981(99)00016-9

PMID:10404727

Abstract

The sensitivity of amino acid analysis by electrospray-tandem mass spectrometry (ESI-TMS) in differential diagnosis of the different forms of hyperphenylalaniemias (HPA) was studied in a total number of 78 dried blood samples from neonates with increased phenylalanine (Phe) concentrations (> 150 micromol/l). Simultaneous quantitative analysis of Phe and tyrosine (Tyr) were performed by ESI-TMS. By means of the Phe/Tyr-ratio it was possible to differentiate between phenylketonuria (PKU; n = 23) and nonPKU-HPA patients (n = 35; P < 0.001) with a sensitivity of 100%. Neonates with transient HPA (n = 9) showed a lower Phe/Tyr-ratio compared to the nonPKU-HPA patients (P < 0.001). Amino acid analysis by ESI-TMS represents a powerful diagnostic tool in differential diagnosis of HPA and is an appropriate technique in the setting of neonatal screening based on dried blood spots.

摘要

在78份来自苯丙氨酸（Phe）浓度升高（>150微摩尔/升）的新生儿的干血样本中，研究了电喷雾串联质谱法（ESI-TMS）进行氨基酸分析在不同形式高苯丙氨酸血症（HPA）鉴别诊断中的敏感性。通过ESI-TMS对Phe和酪氨酸（Tyr）进行同步定量分析。借助Phe/Tyr比值，能够以100%的敏感性区分苯丙酮尿症（PKU；n = 23）和非PKU-HPA患者（n = 35；P < 0.001）。与非PKU-HPA患者相比，短暂性HPA新生儿（n = 9）的Phe/Tyr比值更低（P < 0.001）。ESI-TMS进行的氨基酸分析是HPA鉴别诊断中的一种强大诊断工具，也是基于干血斑进行新生儿筛查的合适技术。