Population-Based Newborn Screening for Mucopolysaccharidosis Type II in Illinois: The First Year Experience

Barbara K. Burton*, George E. Hoganson, Julie Fleischer, Dorothy K. Grange, Stephen R. Braddock, Rachel Hickey, Lauren Hitchins, Daniel Groepper, Katherine M. Christensen, Amelia Kirby, Conny Moody, Heather Shryock, Laura Ashbaugh, Rong Shao, Khaja Basheeruddin

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

6 Scopus citations

Abstract

Objectives: To assess the outcome of population-based newborn screening for mucopolysaccharidosis type II (MPS II) during the first year of screening in Illinois. Study design: Tandem mass spectrometry was used to measure iduronate-2-sulfatase (I2S) activity in dried blood spot specimens obtained from 162 000 infant samples sent to the Newborn Screening Laboratory of the Illinois Department of Public Health in Chicago. Results: One case of MPS II and 14 infants with pseudodeficiency for I2S were identified. Conclusions: Newborn screening for MPS II by measurement of I2S enzyme activity was successfully integrated into the statewide newborn screening program in Illinois.

Original languageEnglish (US)
Pages (from-to)165-167.e1
JournalJournal of Pediatrics
Volume214
DOIs
StatePublished - Nov 2019

Keywords

  • iduronate-2-sulfatase
  • pseudodeficiency

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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