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.
Highlights
IntroductionCalled glycogen storage disease type II, is a rare genetic disorder in which variants in the glucosidase alpha acid gene (gene abbreviation: GAA) result in low levels of acid alpha-glucosidase enzyme (enzyme abbreviation: GAA) and consequent accumulation of glycogen in various tissues of the body [1,2]
Pompe disease, called glycogen storage disease type II, is a rare genetic disorder in which variants in the glucosidase alpha acid gene result in low levels of acid alpha-glucosidase enzyme and consequent accumulation of glycogen in various tissues of the body [1,2]
In the first six years of lysosomal storage disorders (LSDs) screening (January 2013 through December 2018), Missouri State Public Health Laboratory (MSPHL) tested approximately 467,000 newborns, of which 274 screened positive based on decreased GAA activity
Summary
Called glycogen storage disease type II, is a rare genetic disorder in which variants in the glucosidase alpha acid gene (gene abbreviation: GAA) result in low levels of acid alpha-glucosidase enzyme (enzyme abbreviation: GAA) and consequent accumulation of glycogen in various tissues of the body [1,2]. The build-up of glycogen damages muscles throughout the body, most notably the heart and skeletal muscle, and leads to general muscle weakness, breathing problems, and feeding difficulties. The onset and severity of disease symptoms vary widely based on the precise GAA variant(s) inherited [3]. The most severe phenotype, the classical infantile form, is clinically apparent in the first two months of life, causes cardiomyopathy, and is typically fatal in the first year of life [4]. The nonclassical infantile form of Pompe disease typically presents in the first year of life, progresses more slowly than the classical infantile onset form, and typically leads to respiratory failure without cardiomyopathy and death in later childhood. Later-onset forms of Pompe disease, with onset ranging from infantile to early adulthood, are possible and progress at a variable rate [3]
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