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The First Year Experience of Newborn Screening for Pompe Disease in California

Genetic Disease Screening Program, California Department of Public Health, 850 Marina Bay Parkway, MS 8200, USA
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Author to whom correspondence should be addressed.
Int. J. Neonatal Screen. 2020, 6(1), 9; https://doi.org/10.3390/ijns6010009
Received: 24 December 2019 / Revised: 4 February 2020 / Accepted: 5 February 2020 / Published: 7 February 2020
(This article belongs to the Special Issue Newborn Screening for Pompe Disease)
The California Department of Public Health started universal newborn screening for Pompe disease in August 2018 with a two-tier process including: 1) acid alpha-glucosidase (GAA) enzyme activity assay followed by, 2) GAA gene sequencing analysis. This study examines results from the first year of screening in a large and diverse screening population. With 453,152 screened newborns, the birth prevalence and GAA enzyme activity associated with various types of Pompe disease classifications are described. The frequency of GAA gene mutations and allele variants are reported. Of 88 screen positives, 18 newborns were resolved as Pompe disease, including 2 classic infantile-onset and 16 suspected late-onset form. The c.-32-13T>G variant was the most common pathogenic mutation reported. African American and Asian/Pacific Islander newborns had higher allele frequencies for both pathogenic and pseudodeficiency variants. After the first year of Pompe disease screening in California, the disease distribution in the population is now better understood. With the ongoing long-term follow-up system currently in place, our understanding of the complex genotype-phenotype relationships will become more evident in the future, and this should help us better understand the clinical significance of identified cases.
Keywords: Pompe disease; newborn screening; California Pompe disease; newborn screening; California
MDPI and ACS Style

Tang, H.; Feuchtbaum, L.; Sciortino, S.; Matteson, J.; Mathur, D.; Bishop, T.; Olney, R.S. The First Year Experience of Newborn Screening for Pompe Disease in California. Int. J. Neonatal Screen. 2020, 6, 9.

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