Hsuan-Chieh Liao1, Chuan-Chi Chiang2, Dau-Ming Niu3, Chung-Hsing Wang4, Shu-Min Kao2, Fuu-Jen Tsai4, Yu-Hsiu Huang5, Hao-Chuan Liu5, Chun-Kai Huang5, He-Jin Gao5, Chia-Feng Yang5, Min-Ju Chan2, Wei-De Lin4, Yann-Jang Chen6. 1. Institute of Clinical Medicine, National Yang-Ming University, Taipei, Taiwan; The Chinese Foundation of Health, Neonatal Screening Center, Taipei, Taiwan. 2. The Chinese Foundation of Health, Neonatal Screening Center, Taipei, Taiwan. 3. Institute of Clinical Medicine, National Yang-Ming University, Taipei, Taiwan; Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan. 4. Department of Pediatrics, China Medical University Hospital, Taichung, Taiwan. 5. Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan. 6. 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.
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.
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: Pavlina Wolf; Roy N Alcalay; Christopher Liong; Emmaline Cullen; Michael W Pauciulo; William C Nichols; Ziv Gan-Or; Wendy K Chung; Tina Faulkner; Christopher Bentis; Robert J Pomponio; Xiwen Ma; X Kate Zhang; Joan M Keutzer; Petra Oliva Journal: Mol Genet Metab Date: 2017-10-23 Impact factor: 4.797
Authors: Mohamed A Elmonem; Iman G Mahmoud; Dina A Mehaney; Sahar A Sharaf; Sawsan A Hassan; Azza Orabi; Fadia Salem; Marian Y Girgis; Amira El-Badawy; Magy Abdelwahab; Zeinab Salah; Neveen A Soliman; Fayza A Hassan; Laila A Selim Journal: Indian J Pediatr Date: 2016-02-02 Impact factor: 1.967