title: Triplex tandem mass spectrometry assays for the screening of 3 lysosomal storage disorders in a Korean population.
abstract: BACKGROUND
  We evaluated the performance of triplex tandem mass spectrometry (MS/MS) assays using dried blood spots (DBSs) to screen for 3 lysosomal storage disorders (LSDs): Pompe, Fabry, and Gaucher diseases.
  
  
  METHODS
  An Acquity UPLC CSH C18 column (Waters) and a TQD triple quadrupole mass spectrometer (Waters) in the multiple reaction monitoring (MRM) mode were used to evaluate the precision, carryover, and ion suppression of 3 enzyme assays (acid alpha glucosidase, acid α-galactosidase, and acid β-glucocerebrosidase) and were used to screen 1606 anonymous newborn DBSs.
  
  
  RESULTS
  Intra- and inter-run CVs were between 0 and 14.1% and, between 0 and 18.9%. The carryover was 0%, -0.14%, and 0.39% for the 3 enzyme activities, respectively. No ion suppression was observed. The data from the 1606 anonymous newborn DBSs exhibited approximately bell-shaped distributions of 3 enzymatic activities (the median values were 16.46 μmol/h/l, 7.25 μmol/h/l, and 25.63 μmol/h/l, respectively).
  
  
  CONCLUSIONS
  The performance of the triplex tandem mass spectrometry assays for the screening of 3 lysosomal storage disorders in a Korean population using DBSs was acceptable.
authors.affiliation: LabGenomics Clinical Laboratories, Seongnam, Republic of Korea.
authors.forename: Sung Eun
authors.initials: SE
authors.lastname: Cho
authors.affiliation: LabGenomics Clinical Laboratories, Seongnam, Republic of Korea.
authors.forename: Joung Ryull
authors.initials: JR
authors.lastname: Kwak
authors.affiliation: LabGenomics Clinical Laboratories, Seongnam, Republic of Korea.
authors.forename: Hyojung
authors.initials: H
authors.lastname: Lee
authors.affiliation: LabGenomics Clinical Laboratories, Seongnam, Republic of Korea.
authors.forename: Dong Hee
authors.initials: DH
authors.lastname: Seo
authors.affiliation: Department of Laboratory Medicine, Seoul National University College of Medicine, Seoul, Republic of Korea; Department of Laboratory Medicine, Seoul National University Bundang Hospital, Seongnam, Republic of Korea. Electronic address: songjhcp@snu.ac.kr.
authors.forename: Junghan
authors.initials: J
authors.lastname: Song
mesh_terms: D002851:Chromatography, High Pressure Liquid; D059788:Dried Blood Spot Testing; D005962:Glucosylceramidase / Q000097:blood; D006801:Humans; D016464:Lysosomal Storage Diseases / Q000097:blood* / Q000175:diagnosis* / Q000201:enzymology; D011786:Quality Control; D056910:Republic of Korea; D053719:Tandem Mass Spectrometry; D000519:alpha-Galactosidase / Q000097:blood; D000520:alpha-Glucosidases / Q000097:blood
chemical_list: D000520:alpha-Glucosidases; D000519:alpha-Galactosidase; D005962:Glucosylceramidase
keywords: Korean population; Lysosomal storage disorders; Triplex tandem mass spectrometry assays