A pilot newborn screening program for Mucopolysaccharidosis type I in Taiwan
Open Access
- 22 September 2013
- journal article
- Published by Springer Science and Business Media LLC in Orphanet Journal of Rare Diseases
- Vol. 8 (1), 147
- https://doi.org/10.1186/1750-1172-8-147
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.Keywords
This publication has 38 references indexed in Scilit:
- Enzyme replacement therapy and/or hematopoietic stem cell transplantation at diagnosis in patients with mucopolysaccharidosis type I: results of a European consensus procedureOrphanet Journal of Rare Diseases, 2011
- Mucopolysaccharidosis I mutations in Chinese patients: identification of 27 novel mutations and 6 cases involving prenatal diagnosisClinical Genetics, 2011
- Incidence and prevalence of mucopolysaccharidosis type 1 in the Irish republicArchives of Disease in Childhood, 2009
- The prevalence of and survival in Mucopolysaccharidosis I: Hurler, Hurler-Scheie and Scheie syndromes in the UKOrphanet Journal of Rare Diseases, 2008
- Immunochemistry of Lysosomal Storage DisordersClinical Chemistry, 2006
- The first 5years of clinical experience with laronidase enzyme replacement therapy for mucopolysaccharidosis IExpert Opinion on Pharmacotherapy, 2005
- Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human α-L-iduronidase (laronidase)The Journal of Pediatrics, 2004
- MPS screening methods, the berry spot and acid turbidity tests, cause a high incidence of false‐negative results in sanfilippo and morquio syndromesJournal of Clinical Laboratory Analysis, 2002
- Lysosomal disordersCurrent Paediatrics, 1997
- MucopolysaccharidosesCurrent Paediatrics, 1996