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. 2020 Feb 7;6(1):9.
doi: 10.3390/ijns6010009. eCollection 2020 Mar.

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

Hao Tang  1 , Lisa Feuchtbaum  1 , Stanley Sciortino  1 , Jamie Matteson  1 , Deepika Mathur  1 , Tracey Bishop  1 , Richard S Olney  1
Affiliations

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

Hao Tang et al. Int J Neonatal Screen. .

Abstract

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: California; Pompe disease; newborn screening.

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Conflict of interest statement

Conflicts of InterestThe authors declare no conflict of interest.

Figures

Figure 1
Figure 1
California Pompe disease newborn screening algorithm.
Figure 2
Figure 2
Acid alpha-glucosidase (GAA) activities (% of daily means) by resolution for positive Pompe disease screening.
See this image and copyright information in PMC

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