MD, FACMG is a Professor, Department of Pediatrics, Northwestern University Feinberg School of Medicine and Clinical Practice Director, Division of Genetics, Birth Defects and Metabolism, Children's Memorial Hospital, Chicago, IL. She has a longstanding interest and involvement in newborn screening and has served as a consultant to the Illinois Dept. of Public Health for over 20 years. Until very recently, she represented the Society for Inherited Metabolic Disorders on the Secretary's Advisory Committee on Heritable Disorders in Newborns and Children.
Newborn screening for Pompe disease: An update, 2011†
Article first published online: 17 JAN 2012
Copyright © 2012 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
Special Issue: Advancements in Pompe Disease
Volume 160C, Issue 1, pages 8–12, 15 February 2012
How to Cite
Burton, B. K. (2012), Newborn screening for Pompe disease: An update, 2011. Am. J. Med. Genet., 160C: 8–12. doi: 10.1002/ajmg.c.31315
How to cite this article: Burton BK. 2012. Newborn screening for Pompe disease: An update, 2011. Am J Med Genet Part C Semin Med Genet 160C:8–12.
- Issue published online: 23 JAN 2012
- Article first published online: 17 JAN 2012
- Pompe disease;
- glycogen storage disease type II;
- lysosomal storage disorder;
- newborn screening
There is mounting evidence in support of universal newborn screening for Pompe disease. Early treatment of children with infantile Pompe disease, prior to clinical diagnosis, is clearly of benefit in prolonging survival and improving cardiac and motor function. Several testing methods applicable to newborn screening using dried blood spots have been described and several are currently being tested in pilot screening programs. Although challenges remain, particularly in identification of the best strategy for follow-up and management of later onset Pompe disease, these challenges can surely be overcome as they have been with other disorders added to the newborn screening panel. It is anticipated that the results of the several pilot programs currently ongoing or in the planning stages in the United States will provide the data necessary to recommend universal newborn screening for Pompe disease for all infants. © 2012 Wiley Periodicals, Inc.