Newborn Screening for Pompe Disease

Author:

Bodamer Olaf A.1,Scott C. Ronald2,Giugliani Roberto3,

Affiliation:

1. Division of Genetics and Genomics, Boston Children’s Hospital, Boston, Massachusetts;

2. Division of Molecular Medicine, Department of Pediatrics, University of Washington, Seattle, Washington; and

3. Medical Genetics Service, Hospital de Clinicas de Porto Alegre (HCPA) and Department of Genetics, Federal University of Rio Grande do Sul (UFRGS), Porto Alegre, Brazil

Abstract

Started in 1963 by Robert Guthrie, newborn screening (NBS) is considered to be one of the great public health achievements. Its original goal was to screen newborns for conditions that could benefit from presymptomatic treatment, thereby reducing associated morbidity and mortality. With advances in technology, the number of disorders included in NBS programs increased. Pompe disease is a good candidate for NBS. Because decisions regarding which diseases should be included in NBS panels are made regionally and locally, programs and efforts for NBS for Pompe disease have been inconsistent both in the United States and globally. In this article, published in the “Newborn Screening, Diagnosis, and Treatment for Pompe Disease” guidance supplement, the Pompe Disease Newborn Screening Working Group, an international group of experts in both NBS and Pompe disease, review the methods used for NBS for Pompe disease and summarize results of current and ongoing NBS programs in the United States and other countries. Challenges and potential drawbacks associated with NBS also are discussed.

Publisher

American Academy of Pediatrics (AAP)

Subject

Pediatrics, Perinatology and Child Health

Reference50 articles.

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5. A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants.;Guthrie;Pediatrics,1963

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