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A pilot newborn screening program for Mucopolysaccharidosis type I in Taiwan

Shuan-Pei Lin1267, Hsiang-Yu Lin110267, Tuen-Jen Wang38, Chia-Ying Chang9, Chia-Hui Lin3, Sung-Fa Huang38, Chia-Chen Tsai1, Hsuan-Liang Liu4, Joan Keutzer11 and Chih-Kuang Chuang145*

Author Affiliations

1 Division of Genetics and Metabolism, Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan

2 Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan

3 Department of Laboratory Medicine, Mackay Memorial Hospital, Taipei, Taiwan

4 Institute of Biotechnology, National Taipei University of Technology, Taipei, Taiwan

5 College of Medicine, Fu-Jen Catholic University, New Taipei City, Taiwan

6 Department of Early Childhood Care and Education, Mackay Junior College of Medicine, Nursing and Management,, Taipei, Taiwan

7 Department of Medicine, Mackay Medical College, New Taipei City, Taiwan

8 Department of Biochemistry, School of Medical Laboratory Science and Biotechnology, Taipei Medical University, Taipei, Taiwan

9 Department of Pediatrics, Mackay Memorial Hospital, Hsinchu, Taiwan

10 Institute of Clinical Medicine, National Yang-Ming University, Taipei, Taiwan

11 Scientific and Medical Affairs, Genzyme Corporation, Cambridge, MA, USA

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Orphanet Journal of Rare Diseases 2013, 8:147  doi:10.1186/1750-1172-8-147

Published: 22 September 2013



Mucopolysaccharidosis type I (MPS I) is a genetic disease caused by the deficiency of α-L-iduronidase (IDUA) activity. MPS I is classified into three clinical phenotypes called Hurler, Scheie, and Hurler-Scheie syndromes according to their clinical severity. Treatments for MPS I are available. Better outcomes are associated with early treatment, which suggests a need for newborn screening for MPS I. The goal of this study was to determine whether measuring IDUA activity in dried blood on filter paper was effective in newborn screening for MPS I.


We conducted a newborn screening pilot program for MPS I from October 01, 2008 to April 30, 2013. Screening involved measuring IDUA activity in dried blood spots from 35,285 newborns using a fluorometric assay.


Of the 35,285 newborns screened, 19 did not pass the tests and had been noticed for a recall examination. After completing further recheck process, 3 were recalled again for leukocyte IDUA enzyme activity testing. Two of the three had deficient leukocyte IDUA activity. Molecular DNA analyses confirmed the diagnosis of MPS I in these two newborns.


It is feasible to use the IDUA enzyme assay for newborn screening. The incidence of MPS I in Taiwan estimated from this study is about 1/17,643.

Mucopolysaccharidosis type I; α-L-iduronidase; Dried blood spots; Newborn screening