Population-Based Newborn Screening for Mucopolysaccharidosis Type II in Illinois: The First Year Experience | Lurie Children's

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

Burton, B. K.; Hoganson, G. E.; Fleischer, J.; Grange, D. K.; Braddock, S. R.; Hickey, R.; Hitchins, L.; Groepper, D.; Christensen, K. M.; Kirby, A.; Moody, C.; Shryock, H.; Ashbaugh, L.; Shao, R.; Basheeruddin, K.

J Pediatr. 2019 Sep 4; 214:165-167.e1

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.

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