Newborn screening for pompe disease in Illinois: Experience with 684,290 infants

Barbara K. Burton*, Joel Charrow, George E. Hoganson, Julie Fleischer, Dorothy K. Grange, Stephen R. Braddock, Lauren Hitchins, Rachel Hickey, Katherine M. Christensen, Daniel Groepper, Heather Shryock, Pamela Smith, Rong Shao, Khaja Basheeruddin

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

2 Scopus citations


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.

Original languageEnglish (US)
Article numberijns6010004
JournalInternational Journal of Neonatal Screening
Issue number1
StatePublished - 2020


  • Newborn screening
  • Pompe disease

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Immunology and Microbiology (miscellaneous)
  • Obstetrics and Gynecology

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