title: Quantification of trimethylsilyl derivatives of amino acid disease biomarkers in neonatal blood samples by gas chromatography-mass spectrometry.
abstract: A novel analytical procedure was developed for the rapid determination of disease biomarkers of maple syrup urine disease (MSUD), L-valine, L-leucine, L-isoleucine, and L-phenylalanine in dried blood spots. Amino acids extracted from neonatal dried blood spots were rapidly derivatized with bis-(trimethylsilyl)trifluoroacetamide (BSTFA) and then analyzed by gas chromatography-mass spectrometry (GC-MS). Derivatization conditions and the method validation were studied: optimal derivatization conditions were acetonitrile as reaction solvent, a temperature of 100 degrees C, and a reaction time of 30 min. The proposed method provided a detection limit lower than 2.0 microM, recovery between 92% and 106%, and relative standard deviation less than 8.0%. The method was further tested in screening for neonatal MSUD by determination of L-valine, L-leucine, L-isoleucine, and L-phenylalanine in blood samples. The experimental results show that GC-MS following BSTFA derivatization is a rapid, simple, and sensitive method for the determination of amino acid disease biomarkers in blood samples, and is a potential tool for fast screening of MSUD.
authors.affiliation: Zhongshan Hospital, Fudan University, Shanghai, 200032, PR China.
authors.forename: Xizhong
authors.initials: X
authors.lastname: Shen
authors.forename: Chunhui
authors.initials: C
authors.lastname: Deng
authors.forename: Ben
authors.initials: B
authors.lastname: Wang
authors.forename: Ling
authors.initials: L
authors.lastname: Dong
mesh_terms: D000596:Amino Acids / Q000097:blood* / Q000737:chemistry; D015415:Biomarkers / Q000097:blood*; D008401:Gas Chromatography-Mass Spectrometry / Q000379:methods*; D006801:Humans; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000097:blood*; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity; D014297:Trimethylsilyl Compounds / Q000737:chemistry*
chemical_list: D000596:Amino Acids; D015415:Biomarkers; D014297:Trimethylsilyl Compounds