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

J Pediatr. 2019 Nov:214:165-167.e1. doi: 10.1016/j.jpeds.2019.07.053. Epub 2019 Aug 30.

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.

Keywords: iduronate-2-sulfatase; pseudodeficiency.

Publication types

  • Multicenter Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Biomarkers / blood
  • Dried Blood Spot Testing / methods
  • Follow-Up Studies
  • Humans
  • Iduronic Acid / analogs & derivatives*
  • Iduronic Acid / blood
  • Illinois / epidemiology
  • Incidence
  • Infant, Newborn
  • Mucopolysaccharidosis II / blood
  • Mucopolysaccharidosis II / diagnosis*
  • Mucopolysaccharidosis II / epidemiology
  • Neonatal Screening / methods*
  • Reproducibility of Results
  • Retrospective Studies
  • Tandem Mass Spectrometry / methods
  • Time Factors

Substances

  • Biomarkers
  • Iduronic Acid
  • iduronate 2-sulfate