Kim, Jo-Il Noh, Joo-Yoon Kim, Mira Park, Jong-Min Song, Hyun-Woo Kang, Min-Jung Pyun, Jae-Chul 2024-01-20T01:01:45Z 2024-01-20T01:01:45Z 2021-09-05 2017-08 0003-2697 https://pubs.kist.re.kr/handle/201004/122476 Newborn screening for diagnosis of phenylketonuria, homocystinuria, and maple syrup urine disease have been conducted by analyzing the concentration of target amino acids using matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-ToF MS) based on parylene-matrix chip. Parylene-matrix chip was applied to MALDI-ToF MS analysis reducing the matrix peaks significantly at low mass-to-charge ratio range (m/z < 500). Reproducibility of inter-spot and intra-spot analyses of amino acids was less than 10%. Methanol extraction was adopted for simple and rapid sample preparation of serum before mass spectrometric analysis showing 13.3 to 45% of extraction efficiency. Calibration curves for diagnosis of neonatal metabolic disorders were obtained by analyzing methanol extracted serum spiked with target amino acids using MALDI-ToF MS. They showed good linearity (R-2 > 0.98) and the LODs were ranging from 9.0 to 22.9 mu g/mL. Effect of proteins in serum was estimated by comparing MALDI-ToF mass spectra of amino acids-spiked serum before and after the methanol extraction. Interference of other amino acids on analysis of target analyte was determined to be insignificant. From these results, MALDI-ToF MS based on parylene-matrix chip could be applicable to medical diagnosis of neonatal metabolic disorders. (C) 2017 Elsevier Inc. All rights reserved. English Academic Press Newborn screening by matrix-assisted laser desorption/ionization mass spectrometry based on parylene-matrix chip Article 10.1016/j.ab.2017.04.021 1 Analytical Biochemistry, v.530, pp.31 - 39 Analytical Biochemistry 530 31 39 N scie scopus 000404077200005 2-s2.0-85018779607 Biochemical Research Methods Biochemistry & Molecular Biology Chemistry, Analytical Biochemistry & Molecular Biology Chemistry Article AMINO-ACID-METABOLISM SYRUP-URINE-DISEASE MOLECULES DIAGNOSIS DISORDERS MALDI-ToF MS Parylene-matrix chip Newborn screening Amino acid Methanol extraction