Newborn Screening for Pompe Disease: Pennsylvania Experience

Abstract

by Can Ficicioglu,Rebecca C. Ahrens-Nicklas,Joshua Barch,Sanmati R. Cuddapah,Brenda S. DiBoscio,James C. DiPerna,Patricia L. Gordon,Nadene Henderson,Caitlin Menello,Nicole Luongo,Damara Ortiz andRui Xiao
Int. J. Neonatal Screen. 2020, 6(4), 89; https://doi.org/10.3390/ijns6040089 - 15 FEB 2022
Cited by 27 | Viewed by 4777
Abstract
Pennsylvania started newborn screening for Pompe disease in February 2016. Between February 2016 and December 2019, 531,139 newborns were screened. Alpha-Glucosidase (GAA) enzyme activity is measured by flow-injection tandem mass spectrometry (FIA/MS/MS) and full sequencing of the GAA gene is performed as a second-tier test in all newborns with low GAA enzyme activity [<2.10 micromole/L/h]. A total of 115 newborns had low GAA enzyme activity and abnormal genetic testing and were referred to metabolic centers. Two newborns were diagnosed with Infantile Onset Pompe Disease (IOPD), and 31 newborns were confirmed to have Late Onset Pompe Disease (LOPD). The incidence of IOPD + LOPD was 1:16,095. A total of 30 patients were compound heterozygous for one pathogenic and one variant of unknown significance (VUS) mutation or two VUS mutations and were defined as suspected LOPD. The incidence of IOPD + LOPD + suspected LOPD was 1: 8431 in PA. We also found 35 carriers, 15 pseudodeficiency carriers, and 2 false positive newborns. Full article
(This article belongs to the Special Issue Newborn Screening for Pompe Disease)
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