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Start Over Topic dried blood spots Journal orphanet journal of rare diseases
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1. A pilot newborn screening program for Mucopolysaccharidosis type I in Taiwan.

Author

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, and Chih-Kuang Chuang

Subjects
MEDICAL screening, MUCOPOLYSACCHARIDOSIS I, GENETIC disorders, DRIED blood spot testing
Abstract

Background: Mucopolysaccharidosis type I (MPS I) is a genetic disease caused by the deficiency of a-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. [ABSTRACT FROM AUTHOR]

Published
2013
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4. Screening for late-onset Pompe disease in Internal Medicine departments in Spain

Author

López-Rodríguez, Mónica, Torralba-Cabeza, Miguel Angel, de Pedro, Iván Pérez, Rivera, Alberto, Gil, Roi Suarez, Gómez-Belda, Ana, de la Peña, Jose Luis Patier, de los Santos Moreno, Alberto, Selva-O’Callaghan, Albert, Gárate, Igor Gómez, García, Andrés González, Hurtado, Roberto, de Ureta, Pablo Tutor, Barba-Romero, Miguel Ángel, Milisenda, José C., and Grau-Junyent, Josep M.

Published
2023
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5. A pilot newborn screening program for Mucopolysaccharidosis type I in Taiwan

Author

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

Subjects
Male, Newborn screening, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Mucopolysaccharidosis I, Pharmacology toxicology, Taiwan, Mucopolysaccharidosis type I, Neonatal Screening, Dried blood spots, Internal medicine, medicine, Humans, Pilot program, Genetics(clinical), Pharmacology (medical), Clinical severity, skin and connective tissue diseases, Dried blood, Genetics (clinical), Medicine(all), α l iduronidase, business.industry, Research, Infant, Newborn, nutritional and metabolic diseases, General Medicine, α-L-iduronidase, Female, business
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.

Published
2013