A pilot newborn screening program for Mucopolysaccharidosis type I in Taiwan.
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.
Division of Genetics and Metabolism, Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan. cck@ms1.mmh.org.tw.
Shuan-Pei
SP
Lin
Hsiang-Yu
HY
Lin
Tuen-Jen
TJ
Wang
Chia-Ying
CY
Chang
Chia-Hui
CH
Lin
Sung-Fa
SF
Huang
Chia-Chen
CC
Tsai
Hsuan-Liang
HL
Liu
Joan
J
Keutzer
Chih-Kuang
CK
Chuang
D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008059:Mucopolysaccharidosis I / Q000175:diagnosis* / Q000453:epidemiology; D015997:Neonatal Screening / Q000379:methods*; D013624:Taiwan / Q000453:epidemiology