International Journal of Neonatal Screening (Jan 2020)

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 Groeppner,
  • Heather Shryock,
  • Pamela Smith,
  • Rong Shao,
  • Khaja Basheeruddin

DOI
https://doi.org/10.3390/ijns6010004
Journal volume & issue
Vol. 6, no. 1
p. 4

Abstract

Read online

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