新生儿血液中的多种氨基酸及尿液中的苯丙酮酸和对羟基苯乙酸的GC/MS分析

将新生儿血液中的氨基酸及尿液中的苯丙酮酸和对羟基苯乙酸采用不同的方法提取后，分别探讨两种衍生化技术在氨基酸代谢遗传算病筛查中的应用，即新生儿血样中的氨基酸经甲醇提取后用正丁醇和三氟乙酸酐和其衍生化，或者尿样加入乙腈心除蛋白后用乙酸乙酯提取，双（三甲基硅烷）乙酰硅烷化，衍生物用气相色谱－质谱了用仪选择离子模式检测，用外标同时定量分析血样中10种氨基酸的浓度，结果表明苯丙酮尿症患儿尿样中的苯丙酮酸和对羟基苯乙酸，以及血样中的苯丙氨酸的浓度明显高于正常新生儿，本方法可以推广至多种有机酸定量分析，以实现同步筛查多种氨基酸代谢缺陷症及其他遗传病。

Simultaneous Quantitative Analysis of Amino Acids in Blood or of Phenylpyruvic and p-Hydroyphenylacetic Acid in Urine of Newborns by GC-MS

The amino acids in blood and phenylpyruvic acid(PPA), p hydroxyphenylacetic acid (HPA) in urine of newborns were extracted with different methods and then two derivation methods for neonatal screening for inborn disease of amino acids metabolism were explored respectively. The amino acids in blood were extracted with HCl methanol, and then treated with butanol trifluoroacetic anhydride to make it derivative. The PPA and HPA in urine were extracted with acetic ether. The proteins in the extraction were removed by centrifuging. Then PPA and HPA were treated with bis(trimethylsilyl) trifluoroacetamide (BTSFA). The derivatives were analyzed by GC MS with SIM mode. The contents of tem amino acids from blood samples were determined quantitatively and simultaneously with outer standardization. The result showed that the contents of PPA and HPA in urine of phenylketonuria (PKU) newborns were higher than normal newborns. The methods mentioned here might be extended for quantitative analysis of many organic acids to realize simultaneous screening for many amino acids metabolism defect or other inborn disease.