This paper has developed an isotopic dilution gas chromatography-mass spectrometric (ID-GC-MS) rapid method for diagnosing inborn error of metabolism of some neonatal diseases. Small volumes of dry plasma or blood spots were used for neonatal blood screening for diagnosis of phenylketonuria (PKU) and maple syrup urine disease (MSUD) metabolic diseases. The blood samples were derivatized as trifluoroacetyl butyl esters and analyzed by gas chromatography coupled with mass spectrometry in the selected ionization monitoring (SIM) mode. Regression curves for standard amino acids are used for quantitative determination of valine, leucine, proline, phenylalanine and tyrosine, by using 15N-glycine as internal standard. GC/MS analyses were performed on a Trace DSQ ThermoFinnigan quadrupole mass spectrometer coupled with a Trace GC gas chromatograph. Samples were separated on a Rtx-5MS capillary column, 30 m x 0.25 mm, 0.25 μm film thickness, using a temperature program from 50 oC (1 min), then 20 oC/min to 310 oC, in the selected ion monitoring (SIM) mode. The following important ions from the mass spectra of Phe, Pro, Val, Leu and Tyr were used: m/z 91, 148, 204 for Phe, m/z 166 for Pro, m/z 168 for Val, m/z 182 Leu, m/z 203, 260, 316 for Tyr and m/z 155 for the internal standard. The following conditions were followed: transfer line temperature: 250 oC, injector temperature: 200 oC; ion source temperature 250 oC; Splitter: 10:1. Electron energy was 70 eV and emission current 100 μA.
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机译：本文开发了一种同位素稀释气相色谱-质谱（ID-GC-MS）快速诊断某些新生儿疾病的先天性代谢错误的方法。少量干血浆或血斑用于新生儿血液筛查，以诊断苯丙酮尿症（PKU）和枫糖浆尿病（MSUD）代谢性疾病。血样被衍生为三氟乙酰基丁酸酯，并在选定的电离监测（SIM）模式下通过气相色谱与质谱联用进行分析。通过使用15N甘氨酸作为内标，标准氨基酸的回归曲线用于定量测定缬氨酸，亮氨酸，脯氨酸，苯丙氨酸和酪氨酸。 GC / MS分析在Trace DSQ ThermoFinnigan四极杆质谱仪和Trace GC气相色谱仪上进行。在选定的离子监控（SIM）中，使用温度程序从50 oC（1 min），然后从20 oC / min到310 oC，在Rtx-5MS毛细管柱上分离样品，膜厚30 mx 0.25 mm，膜厚0.25μm。模式。使用了以下来自Phe，Pro，Val，Leu和Tyr质谱的重要离子：Phe的m / z 91、148、204，Pro的m / z 166，Val的m / z 168，m / z 182 Leu，Tyr的m / z 203、260、316和内标的m / z 155。遵循以下条件：传输线温度：250 oC，喷射器温度：200 oC;离子源温度250 oC;分配器：10：1。电子能量为70 eV，发射电流为100μA。
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