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Abstract
BackgroundMucopolysaccharidosis 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.MethodsWe 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.ResultsOf 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.ConclusionsIt 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.
Highlights
The mucopolysaccharidoses (MPS) are a group of inherited diseases known as lysosomal storage disorders
The accumulation of dermatan and heparan sulfate in lysosomes trigger changes in cellular metabolism that lead to tissue and organ damage and the signs and symptoms of Mucopolysaccharidosis type I (MPS I)
Disease-specific treatments to replace IDUA activity include laronidase enzyme replacement therapy for the non-neurologic manifestations of MPS I patients [4,5,6,7,8,9,10,11,12] and bone marrow and hematopoietic stem cell transplantation for Hurler syndrome patients [13,14,15,16]. de Ru et al reported that enzyme replacement therapy (ERT) can result in good clearance of GAGs from many tissues and can significantly ameliorate several symptoms [12]
Summary
The mucopolysaccharidoses (MPS) are a group of inherited diseases known as lysosomal storage disorders. Disease-specific treatments to replace IDUA activity include laronidase enzyme replacement therapy for the non-neurologic manifestations of MPS I patients [4,5,6,7,8,9,10,11,12] and bone marrow and hematopoietic stem cell transplantation for Hurler syndrome patients [13,14,15,16]. Data from siblings who began treatment at different ages suggest that initiation of laronidase treatment in infancy, before the development of significant disease manifestations, may improve outcome with respect to coarse facial features, musculoskeletal disease, cardiac valve disease [17] and brain MRI abnormalities [18] These results suggest that early diagnosis of MPS I through newborn screening may improve the prognosis of patients with 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
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