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Open Access 01-12-2013 | Research

A pilot newborn screening program for Mucopolysaccharidosis type I in Taiwan

Authors: Shuan-Pei Lin, Hsiang-Yu Lin, Tuen-Jen Wang, Chia-Ying Chang, Chia-Hui Lin, Sung-Fa Huang, Chia-Chen Tsai, Hsuan-Liang Liu, Joan Keutzer, Chih-Kuang Chuang

Published in: Orphanet Journal of Rare Diseases | Issue 1/2013

Abstract

Background

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.

Methods

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.

Results

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.

Conclusions

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.

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Title: A pilot newborn screening program for Mucopolysaccharidosis type I in Taiwan
Authors: Shuan-Pei Lin
Hsiang-Yu Lin
Tuen-Jen Wang
Chia-Ying Chang
Chia-Hui Lin
Sung-Fa Huang
Chia-Chen Tsai
Hsuan-Liang Liu
Joan Keutzer
Chih-Kuang Chuang
Publication date: 01-12-2013
Publisher: BioMed Central
Published in: Orphanet Journal of Rare Diseases / Issue 1/2013
Electronic ISSN: 1750-1172
DOI: https://doi.org/10.1186/1750-1172-8-147

Keynote webinar | Spotlight on sleep in brain health

Springer Medicine

A pilot newborn screening program for Mucopolysaccharidosis type I in Taiwan

Abstract

Background

Methods

Results

Conclusions

Keynote webinar | Spotlight on sleep in brain health

Springer Medicine

Abstract

Background

Methods

Results

Conclusions

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