Detecting multiple lysosomal storage diseases by tandem mass spectrometry - A national newborn screening program in Taiwan

Hsuan Chieh Liao, Chuan Chi Chiang, Dau Ming Niu, Chung Hsing Wang, Shu Min Kao, Fuu Jen Tsai, Yu Hsiu Huang, Hao Chuan Liu, Chun Kai Huang, He Jin Gao, Chia Feng Yang, Min Ju Chan, Wei De Lin, Yann Jang Chen*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

84 Scopus citations


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.

Original languageEnglish
Pages (from-to)80-86
Number of pages7
JournalClinica Chimica Acta
StatePublished - 20 Apr 2014


  • Fabry disease
  • Gaucher disease
  • Lysosomal storage disease
  • Newborn screening
  • Pompe disease
  • Tandem mass spectrometry


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