Lessons Learned from Pompe Disease Newborn Screening and Follow-up
Open Access
- 14 February 2020
- journal article
- research article
- Published by MDPI AG in International Journal of Neonatal Screening
- Vol. 6 (1), 11
- https://doi.org/10.3390/ijns6010011
Abstract
In 2015, Pompe disease became the first lysosomal storage disorder to be recommended for universal newborn screening by the Secretary of the U.S. Department of Health and Human Services. Newborn screening for Pompe has been implemented in 20 states and several countries across the world. The rates of later-onset disease phenotypes for Pompe and pseudodeficiency alleles are higher than initially anticipated, and these factors must be considered during Pompe disease newborn screening. This report presents an overview of six years of data from the Missouri State Public Health Laboratory for Pompe disease newborn screening and follow-up.Keywords
This publication has 11 references indexed in Scilit:
- Incidence of 4 Lysosomal Storage Disorders From 4 Years of Newborn ScreeningJAMA Pediatrics, 2018
- Newborn Screening for Lysosomal Storage Disorders in Illinois: The Initial 15-Month ExperienceThe Journal of Pediatrics, 2017
- Very Early Treatment for Infantile-Onset Pompe Disease Contributes to Better OutcomesThe Journal of Pediatrics, 2015
- Lysosomal Storage Disorder Screening Implementation: Findings from the First Six Months of Full Population Pilot Testing in MissouriThe Journal of Pediatrics, 2015
- Multiplex newborn screening for Pompe, Fabry, Hunter, Gaucher, and Hurler diseases using a digital microfluidic platformClinica Chimica Acta; International Journal of Clinical Chemistry, 2013
- Algorithm for Pompe disease newborn screening: Results from the Taiwan screening programMolecular Genetics and Metabolism, 2012
- The new era of Pompe disease: Advances in the detection, understanding of the phenotypic spectrum, pathophysiology, and managementSeminars in Medical Genetics, Part C of the American Journal of Medical Genetics, 2012
- Early Treatment With Alglucosidase Alfa Prolongs Long-Term Survival of Infants With Pompe DiseasePediatric Research, 2009
- The Magnitude and Challenge of False-Positive Newborn Screening Test ResultsArchives of Pediatrics & Adolescent Medicine, 2000
- Zum klinischen Bild der Glykogen-Speicherungskrankheit (Glykogenose)European Journal of Pediatrics, 1932