Investigation on the Medical Reference Range of the Normal Neonates with the Amino Acid and Acyl Carnitine Tandem Mass Spectrometry in Gansu Province / 现代检验医学杂志

ABSTRACT

Objective To establish the medical reference range of amino acid and acyl car-nitine tandem mass spectrometry in normal neonates in Gansu province,and provide the basis for the determination of amino acid and acyl carnitine test results in the screening of neonatal genetic metabolic diseases.Methods A non derivatization tandem mass spectro-metry kit was used to screen 77 957 samples of neonates in Gansu province.Statistical soft ware SPSS19.0 was used to analyze the 95％ reference range of 11 amino acids and 31 kinds of acylcarnitine indexes.Results The medical reference value(μmol/L) of the series mass spectra of newborn genetic metabolic diseases in Gansu province was establishedALA (216.17 ～ 727.58),ARG (1.80～33.03),CIT (4.87～30.67),GLY (183.43～841.46),LEU (79.85～289.45),MET (3.32～25.86),ORN (34.09～225.15),PHE (27.04～83.37),PRO (79.44～337.59),TYR (37.61～177.79),VAL (59.31～250.95),C0 (9.35～45.35),C2 (2.62～25.40),C3 (0.46～3.3),C3DC_C4OH (0.02～0.20),C4 (0.08～0.31),C4DC_C5OH (0.10～0.32),C5 (0.05～0.30),C51 (0.00～0.01),C5DC_C6OH (0.04～0.22),C6 (0.01～0.06),C6DC (0.03～0.13),C8 (0.02～0.08),C81 (0.05～0.31),C10 (0.02～0.12),C101 (0.03～0.10),C102 (0.01～0.10),C12 (0.02～0.13),C121 (0.02～0.10),C14 (0.07～0.30),C141 (0.03～0.13),C142 (0.01～0.03),C14OH (0.00～0.02),C16 (0.59～4.91),C161 (0.03～0.30),C161-OH (0.01～0.08),C16OH (0.01～0.03),C18 (0.29～1.30),C181 (0.57～2.32),C181-OH (0.01～0.05),C182 (0.08～0.51) and C18OH (0.00～0.02).Conclusion The establishment of the medical reference range of the normal neonatal dryblood spot amino acid and acyl carnitine tandem mass spectrometry in Gansu province can provide reference for the determination of the results of the cluster mass spectrometry in this region.