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

doi:10.3390/ijns6010004

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

Int J Neonatal Screen. 2020 Jan 21;6(1):4. doi: 10.3390/ijns6010004. eCollection 2020 Mar.

Authors

Affiliations

¹ Department of Pediatrics, Feinberg School of Medicine of Northwestern University, Chicago, IL 60611, USA; JCharrow@luriechildrens.org.
² Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA; lhitchins@luriechildrens.org (L.H.); rahickey@luriechildrens.org (R.H.).
³ Department of Pediatrics, University of Illinois College of Medicine, Chicago, IL 60612, USA; geh@uic.edu.
⁴ Department of Pediatrics, Southern Illinois University School of Medicine, Springfield, IL 62701, USA; jfleischer95@siumed.edu (J.F.); dgroepper@siumed.edu (D.G.).
⁵ Department of Pediatrics, Washington University School of Medicine and St. Louis Children's Hospital, St. Louis, MO 63110, USA; grange_d@kids.wustl.edu.
⁶ Department of Pediatrics, Saint Louis University, St. Louis, MO 63104, USA; braddock@slu.edu (S.R.B.); katherine.christensen@health.slu.edu (K.M.C.).
⁷ Office of Health Promotion, Illinois Department of Public Health, Springfield, IL 62761, USA; Heather.Shryock@Illinois.gov (H.S.); Pamela.E.Smith@illinois.gov (P.S.).
⁸ Newborn Screening Laboratory, Illinois Department of Public Health, Chicago, IL 60603, USA; Rong.Shao@Illinois.gov (R.S.); Khaja.Basheeruddin@Illinois.gov (K.B.).

Abstract

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.