Next Article in Journal / Special Issue
Development of Newborn Screening for Pompe Disease
Previous Article in Journal
Acknowledgement to Reviewers of International Journal of Neonatal Screening in 2019
Previous Article in Special Issue
Is Newborn Screening the Ultimate Strategy to Reduce Diagnostic Delays in Pompe Disease? The Parent and Patient Perspective
Open AccessArticle

Newborn Screening for Pompe Disease in Illinois: Experience with 684,290 Infants

Department of Pediatrics, Feinberg School of Medicine of Northwestern University, Chicago, IL 60611, USA
Department of Pediatrics, Ann and Robert H. Lurie Children’s Hospital of Chicago, Chicago, IL 60611, USA
Department of Pediatrics, University of Illinois College of Medicine, Chicago, IL 60612, USA
Department of Pediatrics, Southern Illinois University School of Medicine, Springfield, IL 62701, USA
Department of Pediatrics, Washington University School of Medicine and St. Louis Children’s Hospital, St. Louis, MO 63110, USA
Department of Pediatrics, Saint Louis University, St. Louis, MO 63104, USA
Office of Health Promotion, Illinois Department of Public Health, Springfield, IL 62761, USA
Newborn Screening Laboratory, Illinois Department of Public Health, Chicago, IL 60603, USA
Author to whom correspondence should be addressed.
Int. J. Neonatal Screen. 2020, 6(1), 4;
Received: 11 December 2019 / Revised: 9 January 2020 / Accepted: 18 January 2020 / Published: 21 January 2020
(This article belongs to the Special Issue Newborn Screening for Pompe Disease)
Statewide newborn screening for Pompe disease began in Illinois in 2015. As of 30 September 2019, a total of 684,290 infants had been screened and 395 infants (0.06%) were screen positive. A total of 29 cases of Pompe disease were identified (3 infantile, 26 late-onset). While many of the remainder were found to have normal alpha-glucosidase activity on the follow-up testing (234 of 395), other findings included 62 carriers, 39 infants with pseudodeficiency, and eight infants who could not be given a definitive diagnosis due to inconclusive follow-up testing.
Keywords: Pompe disease; newborn screening Pompe disease; newborn screening
MDPI and ACS Style

Burton, B.K.; Charrow, J.; Hoganson, G.E.; Fleischer, J.; Grange, D.K.; Braddock, S.R.; Hitchins, L.; Hickey, R.; Christensen, K.M.; Groeppner, D.; Shryock, H.; Smith, P.; Shao, R.; Basheeruddin, K. Newborn Screening for Pompe Disease in Illinois: Experience with 684,290 Infants. Int. J. Neonatal Screen. 2020, 6, 4.

Show more citation formats Show less citations formats
Note that from the first issue of 2016, MDPI journals use article numbers instead of page numbers. See further details here.

Article Access Map by Country/Region

Back to TopTop