title: Detecting multiple lysosomal storage diseases by tandem mass spectrometry--a national newborn screening program in Taiwan.
abstract: BACKGROUND
  Interest in lysosomal storage diseases in newborn screening programs has increased in recent years. Two techniques, fluorescence (4-MU) and tandem mass spectrometry (MS/MS) methods are frequently used. We report a pilot study of large scale newborn screening for Fabry, Pompe, Gaucher, and MPS I diseases by using the MS/MS method in Taiwan and compared the performance of the MS/MS with 4-MU methods.
  
  
  METHODS
  More than 100,000 dried blood spots (DBSs) were collected consecutively as part of the national Taiwan newborn screening programs. The enzyme activities were detected by the MS/MS method from a DBS punch. Mutation analysis was further performed for newborns with detected enzyme deficiency.
  
  
  RESULTS
  The DNA sequence analysis for suspected cases revealed 64 newborns with confirmed Fabry mutations, 16 were classified as infantile or late-onset Pompe disease, and 1 was characterized as Gaucher disease. The positive predict value increased from 4.0% to 7.1% in the Pompe study, and from 61.0% to 95.5% in the Fabry study by the MS/MS method compared to 4-MU assay.
  
  
  CONCLUSIONS
  The MS/MS method has been validated as a more specific, powerful and efficient tool than the 4-MU assay. It also provided a multiplex solution of newborn screening for lysosomal storage diseases.
authors: Institute of Clinical Medicine, National Yang-Ming University, Taipei, Taiwan; The Chinese Foundation of Health, Neonatal Screening Center, Taipei, Taiwan.
authors: Hsuan-Chieh
authors: HC
authors: Liao
authors: The Chinese Foundation of Health, Neonatal Screening Center, Taipei, Taiwan.
authors: Chuan-Chi
authors: CC
authors: Chiang
authors: Institute of Clinical Medicine, National Yang-Ming University, Taipei, Taiwan; Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan.
authors: Dau-Ming
authors: DM
authors: Niu
authors: Department of Pediatrics, China Medical University Hospital, Taichung, Taiwan.
authors: Chung-Hsing
authors: CH
authors: Wang
authors: The Chinese Foundation of Health, Neonatal Screening Center, Taipei, Taiwan.
authors: Shu-Min
authors: SM
authors: Kao
authors: Department of Pediatrics, China Medical University Hospital, Taichung, Taiwan.
authors: Fuu-Jen
authors: FJ
authors: Tsai
authors: Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan.
authors: Yu-Hsiu
authors: YH
authors: Huang
authors: Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan.
authors: Hao-Chuan
authors: HC
authors: Liu
authors: Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan.
authors: Chun-Kai
authors: CK
authors: Huang
authors: Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan.
authors: He-Jin
authors: HJ
authors: Gao
authors: Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan.
authors: Chia-Feng
authors: CF
authors: Yang
authors: The Chinese Foundation of Health, Neonatal Screening Center, Taipei, Taiwan.
authors: Min-Ju
authors: MJ
authors: Chan
authors: Department of Pediatrics, China Medical University Hospital, Taichung, Taiwan.
authors: Wei-De
authors: WD
authors: Lin
authors: Institute of Clinical Medicine, National Yang-Ming University, Taipei, Taiwan; Department of Life Sciences and Institute of Genome Sciences, National Yang-Ming University, Taipei, Taiwan; Department of Pediatrics, Renai Branch, Taipei City Hospital, Taipei, Taiwan. Electronic address: yjchen@ym.edu.tw.
authors: Yann-Jang
authors: YJ
authors: Chen
mesh_terms: D004247:DNA / Q000235:genetics; D059788:Dried Blood Spot Testing; D000795:Fabry Disease / Q000175:diagnosis / Q000235:genetics; D005260:Female; D005776:Gaucher Disease / Q000175:diagnosis / Q000235:genetics; D006009:Glycogen Storage Disease Type II / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D016464:Lysosomal Storage Diseases / Q000175:diagnosis*; D008297:Male; D015997:Neonatal Screening; D010865:Pilot Projects; D011786:Quality Control; D015203:Reproducibility of Results; D017422:Sequence Analysis, DNA; D013624:Taiwan; D053719:Tandem Mass Spectrometry
chemical_list: D004247:DNA
keywords: Fabry disease; Gaucher disease; Lysosomal storage disease; Newborn screening; Pompe disease; Tandem mass spectrometry