Newborn Screening for Pompe Disease: Pennsylvania Experience

Division of Human Genetics/Metabolism, Children’s Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA

Department of Pediatrics, Division of Medical Genetics, UPMC Children’s Hospital of Pittsburgh, Pittsburgh, PA 15224, USA

PerkinElmer, Mass Spectroscopy Unit, Pittsburgh, PA 15275, USA

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Division of Human Genetics, Penn State Heath Children’s Hospital, Penn State University College of Medicine, Hershey, PA 17033, USA

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Department of Pediatrics, Division of Biostatistics, Children’s Hospital of Philadelphia, Philadelphia, PA 19104, USA

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Department of Biostatistics, Epidemiology & Informatics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA

Author to whom correspondence should be addressed.

Int. J. Neonatal Screen. 2020, 6(4), 89; https://doi.org/10.3390/ijns6040089

Received: 2 October 2020 / Revised: 4 November 2020 / Accepted: 6 November 2020 / Published: 13 November 2020

(This article belongs to the Special Issue Newborn Screening for Pompe Disease)

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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. View Full-Text

Keywords: Pompe disease; newborn screening; alpha glucosidase

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MDPI and ACS Style

Ficicioglu, C.; Ahrens-Nicklas, R.C.; Barch, J.; Cuddapah, S.R.; DiBoscio, B.S.; DiPerna, J.C.; Gordon, P.L.; Henderson, N.; Menello, C.; Luongo, N.; Ortiz, D.; Xiao, R. Newborn Screening for Pompe Disease: Pennsylvania Experience. Int. J. Neonatal Screen. 2020, 6, 89. https://doi.org/10.3390/ijns6040089

AMA Style

Ficicioglu C, Ahrens-Nicklas RC, Barch J, Cuddapah SR, DiBoscio BS, DiPerna JC, Gordon PL, Henderson N, Menello C, Luongo N, Ortiz D, Xiao R. Newborn Screening for Pompe Disease: Pennsylvania Experience. International Journal of Neonatal Screening. 2020; 6(4):89. https://doi.org/10.3390/ijns6040089

Chicago/Turabian Style

Ficicioglu, Can, 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, and Rui Xiao. 2020. "Newborn Screening for Pompe Disease: Pennsylvania Experience" International Journal of Neonatal Screening 6, no. 4: 89. https://doi.org/10.3390/ijns6040089

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