关键词: 氨基酸, 串联质谱, 非衍生化

Abstract: 【Objective】 The non-derivatized MS/MS method to measure amino acids was established for the detection and screening of the amino acid disorders. 【Methods】 The measurement of amino acids including Alanine(Ala), Arginine(Arg), Citrulline(Cit), Glycine(Gly), Leucine(Leu), Methionine(Met), Methionine(Met), Ornithine(Orn), Phenylalanine(Phe), Proline(Pro), Tyrosine(Tyr) and Valine(Val)involved extraction of dried blood spots with a solution containing 11 stable-isotope labeled internal standards and analysis using a tandem mass spectrometry(MS/MS) system. The precision, accuracy of the method were analyzed and 1 093 high-risk children were screened by MS/MS. 【Results】 The precisions(CV) of the amino acids with lower concentration were in the area of 5.84%～9.57%(within-run) and 13.89%～18.65%(between-run), respectively. The precisions of the amino acids with higher concentration were in the area of 4.57%～8.78%(within-run) and 13.55%～17.25%(between-run), respectively. The derivation in the assay of amino acids varied from 4.24% to 16.16%, the average was 4.10%. 11 patients were positive including four with hyperphenylalaninemia, three with Maple Syrup Urine Disease, two with Citrullinemia, one with tyrosinemia and one with Arginemia. 【Conclusion】 The high precision and accuracy of the non-derivatized MS/MS method provides the values in the clinical application.

Key words: amino acid, tandem mass spectrometry, non-derivatized