Barbara K Burton1, George E Hoganson2, Julie Fleischer3, Dorothy K Grange4, Stephen R Braddock5, Rachel Hickey6, Lauren Hitchins7, Daniel Groepper3, Katherine M Christensen5, Amelia Kirby5, Conny Moody8, Heather Shryock8, Laura Ashbaugh8, Rong Shao9, Khaja Basheeruddin9. 1. Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL; Northwestern University Feinberg School of Medicine, Chicago, IL. Electronic address: bburton@luriechildrens.org. 2. University of Illinois College of Medicine, Chicago, IL. 3. Southern Illinois University, Springfield, IL. 4. Washington University School of Medicine, St. Louis, MO. 5. Saint Louis University, St. Louis, MO; SSM Health Cardinal Glennon Children's Medical Center, St. Louis, MO. 6. Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL. 7. Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL; Northwestern University Feinberg School of Medicine, Chicago, IL. 8. Office of Health Promotion, Illinois Department of Public Health, Springfield, IL. 9. Newborn Screening Laboratory, Illinois Department of Public Health, Chicago, IL.
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.
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.
Authors: Dawn S Peck; Jean M Lacey; Amy L White; Gisele Pino; April L Studinski; Rachel Fisher; Ayesha Ahmad; Linda Spencer; Sarah Viall; Natalie Shallow; Amy Siemon; J Austin Hamm; Brianna K Murray; Kelly L Jones; Dimitar Gavrilov; Devin Oglesbee; Kimiyo Raymond; Dietrich Matern; Piero Rinaldo; Silvia Tortorelli Journal: Int J Neonatal Screen Date: 2020-02-07