1. Detecting multiple lysosomal storage diseases by tandem mass spectrometry — A national newborn screening program in Taiwan.
- Author
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Liao, Hsuan-Chieh, Chiang, Chuan-Chi, Niu, Dau-Ming, Wang, Chung-Hsing, Kao, Shu-Min, Tsai, Fuu-Jen, Huang, Yu-Hsiu, Liu, Hao-Chuan, Huang, Chun-Kai, Gao, He-Jin, Yang, Chia-Feng, Chan, Min-Ju, Lin, Wei-De, and Chen, Yann-Jang
- Subjects
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LYSOSOMAL storage diseases , *TANDEM mass spectrometry , *MEDICAL screening , *DRIED blood spot testing , *DIAGNOSIS ,DIAGNOSIS of neonatal diseases - Abstract
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. [Copyright &y& Elsevier]
- Published
- 2014
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