Newborn Screening for Pompe Disease in Illinois: Experience with 684,290 Infants
Open Access
- 21 January 2020
- journal article
- research article
- Published by MDPI AG in International Journal of Neonatal Screening
- Vol. 6 (1), 4
- https://doi.org/10.3390/ijns6010004
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
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