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

Burton, B. K.; Charrow, J.; Hoganson, G. E.; Fleischer, J.; Grange, D. K.; Braddock, S. R.; Hitchins, L.; Hickey, R.; Christensen, K. M.; Groepper, D.; Shryock, H.; Smith, P.; Shao, R.; Basheeruddin, K.

Int J Neonatal Screen. 2020 Jan 21; 6(4)

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.

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