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Taiwan National Newborn Screening Program by Tandem Mass Spectrometry for Mucopolysaccharidoses Types I, II, and VI.
Chan, Min-Ju; Liao, Hsuan-Chieh; Gelb, Michael H; Chuang, Chih-Kuang; Liu, Mei-Ying; Chen, Hsiao-Jan; Kao, Shu-Min; Lin, Hsiang-Yu; Huang, You-Hsin; Kumar, Arun Babu; Chennamaneni, Naveen Kumar; Pendem, Nagendar; Lin, Shuan-Pei; Chiang, Chuan-Chi.
Afiliación
  • Chan MJ; Neonatal Screening Center, The Chinese Foundation of Health, Taipei, Taiwan.
  • Liao HC; Neonatal Screening Center, The Chinese Foundation of Health, Taipei, Taiwan.
  • Gelb MH; Department of Chemistry, University of Washington, Seattle, WA; Department of Biochemistry, University of Washington, Seattle, WA.
  • Chuang CK; Division of Genetics and Metabolism, Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan; Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan.
  • Liu MY; Neonatal Screening Center, The Chinese Foundation of Health, Taipei, Taiwan.
  • Chen HJ; Neonatal Screening Center, The Chinese Foundation of Health, Taipei, Taiwan.
  • Kao SM; Neonatal Screening Center, The Chinese Foundation of Health, Taipei, Taiwan.
  • Lin HY; Division of Genetics and Metabolism, Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan; Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan; Nursing and Management, Mackay Junior College of Medicine, Taipei, Taiwan.
  • Huang YH; Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan.
  • Kumar AB; Department of Chemistry, University of Washington, Seattle, WA.
  • Chennamaneni NK; Department of Chemistry, University of Washington, Seattle, WA.
  • Pendem N; Department of Chemistry, University of Washington, Seattle, WA.
  • Lin SP; Division of Genetics and Metabolism, Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan; Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan.
  • Chiang CC; Neonatal Screening Center, The Chinese Foundation of Health, Taipei, Taiwan. Electronic address: ccchiang@cfoh.org.tw.
J Pediatr ; 205: 176-182, 2019 02.
Article en En | MEDLINE | ID: mdl-30409495
OBJECTIVE: To evaluate the initial cutoff values, rates of screen positives, and genotypes for the large-scale newborn screening program for multiple mucopolysaccharidoses (MPS) in Taiwan. STUDY DESIGN: More than 100 000 dried blood spots were collected consecutively as part of the national Taiwan newborn screening programs. Enzyme activities were measured by tandem mass spectrometry from dried blood spot punches. Genotypes were obtained when a second newborn screening specimen again had a decreased enzyme activity. Additional clinical evaluation was then initiated based on enzyme activity and/or genotype. RESULTS: Molecular genetic analysis for cases with low enzyme activity revealed 5 newborns with pathogenic alpha-L-iduronidase mutations, 3 newborns with pathogenic iduronate-2-sulfatase mutations, and 1 newborn was a carrier of an arylsulfatase B mutation. Several variants of unknown pathogenic significance were also identified, most likely causing pseudodeficiency. CONCLUSIONS: The highly robust tandem mass spectrometry-based enzyme assays for MPS-I, MPS-II, and MPS-VI allow for high-throughput newborn screening for these lysosomal storage disorders. Optimized cutoff values combined with second tier testing could largely eliminate false-positive results. Accordingly, newborn screening for these lysosomal storage disorders is possible.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Tamizaje Neonatal / Mucopolisacaridosis II / Mucopolisacaridosis I / Mucopolisacaridosis IV / Espectrometría de Masas en Tándem Tipo de estudio: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Límite: Humans / Newborn País/Región como asunto: Asia Idioma: En Revista: J Pediatr Año: 2019 Tipo del documento: Article País de afiliación: Taiwán Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Tamizaje Neonatal / Mucopolisacaridosis II / Mucopolisacaridosis I / Mucopolisacaridosis IV / Espectrometría de Masas en Tándem Tipo de estudio: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Límite: Humans / Newborn País/Región como asunto: Asia Idioma: En Revista: J Pediatr Año: 2019 Tipo del documento: Article País de afiliación: Taiwán Pais de publicación: Estados Unidos