Newborn screening for Pompe disease: An update, 2011

Barbara K. Burton*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

19 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)8-12
Number of pages5
JournalAmerican Journal of Medical Genetics, Part C: Seminars in Medical Genetics
Volume160 C
Issue number1
StatePublished - Feb 15 2012


  • Glycogen storage disease type II
  • Lysosomal storage disorder
  • Newborn screening
  • Pompe disease

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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