【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
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References
[1] Raghuveer TS, Garg U, Graf WD. Inborn errors of metabolism in infancy and early childhood:an update[J]. Am Fam Physician,2006,73(11):1981-1990.
[2] Ceglarek U, Leichtle A, Brugel M, et al. Challenges and developments in tandem mass spectrometry based clinical metabolomics[J]. Mol Cell Endocrinol,2009,301(1-2):266-271.
[3] Chace DH, Kalas TA. A biochemical prspective on the use of tandem mass spectrometry for newborn screening and clinical testing[J]. Clin Biochem,2005,38(4):296-309.
[4] 李启亮,徐樨巍,宋文琪.串联质谱法两种扫描方式检测干血滤纸片上氨基酸含量的精密度和准确度[J].中华检验医学杂志,2010,33(6):562-564.
[5] Bell CJ. Newborn screening quality assurance program: 2008 annual summary report[J]. Atlanta: Centers for Disease Control and Prevention,2009,26(1):21-34.
[6] Champion MP. An approach to the diagnosis of inherited metabolic disease[J]. Arch Dis Child Educ Pract Ed,2010,95(2):40-46.
[7] Niu DM, Chien YH, Chiang CC, et al. Nationwide survey of extended newborn screening by tandem mass spectrometry in Taiwan[J]. J Inherit Metab Dis,2010,33(2s):295-305.
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