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Three cases of multi-generational Pompe disease: Are current practices missing diagnostic and treatment opportunities?

Publication ,  Journal Article
McIntosh, P; Austin, S; Sullivan, J; Bailey, L; Bailey, C; Viskochil, D; Kishnani, PS
Published in: Am J Med Genet A
October 2017

Pompe disease (Glycogen storage disease type II, GSDII, or acid maltase deficiency) is an autosomal recessive metabolic myopathy with a broad clinical spectrum, ranging from infantile to late-onset presentations. In 2015, Pompe disease was added as a core condition to the Recommended Uniform Screening Panel for state newborn screening (NBS). The clinical importance of Pompe disease is evolving with the use of NBS, increasing awareness of the disease, and higher than previously reported disease prevalence; however, current practices miss additional diagnostic and potential treatment opportunities in close relatives of the family proband. In this report, we describe three families with multiple individuals in multiple generations affected by both infantile and late-onset clinical presentations of Pompe disease. The presence of multi-generational disease within these families highlights the importance of subsequent risk assessment through medical history and physical examination, with a low threshold for the screening of a proband's family members. We recommend enzymology (GAA activity assay) as the first screening method, as opposed to targeted mutation analysis, for at-risk family members. Given that the initial symptoms of the slowly progressive late-onset presentation of Pompe disease may be mild or non-specific, enzymatic testing of all parents of affected infants should be considered.

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Published In

Am J Med Genet A

DOI

EISSN

1552-4833

Publication Date

October 2017

Volume

173

Issue

10

Start / End Page

2628 / 2634

Location

United States

Related Subject Headings

  • alpha-Glucosidases
  • Pedigree
  • Neonatal Screening
  • Mutation
  • Middle Aged
  • Male
  • Infant, Newborn
  • Infant
  • Humans
  • Glycogen Storage Disease Type II
 

Citation

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McIntosh, P., Austin, S., Sullivan, J., Bailey, L., Bailey, C., Viskochil, D., & Kishnani, P. S. (2017). Three cases of multi-generational Pompe disease: Are current practices missing diagnostic and treatment opportunities? Am J Med Genet A, 173(10), 2628–2634. https://doi.org/10.1002/ajmg.a.38369
McIntosh, Paul, Stephanie Austin, Jennifer Sullivan, Lauren Bailey, Carrie Bailey, David Viskochil, and Priya S. Kishnani. “Three cases of multi-generational Pompe disease: Are current practices missing diagnostic and treatment opportunities?Am J Med Genet A 173, no. 10 (October 2017): 2628–34. https://doi.org/10.1002/ajmg.a.38369.
McIntosh P, Austin S, Sullivan J, Bailey L, Bailey C, Viskochil D, et al. Three cases of multi-generational Pompe disease: Are current practices missing diagnostic and treatment opportunities? Am J Med Genet A. 2017 Oct;173(10):2628–34.
McIntosh, Paul, et al. “Three cases of multi-generational Pompe disease: Are current practices missing diagnostic and treatment opportunities?Am J Med Genet A, vol. 173, no. 10, Oct. 2017, pp. 2628–34. Pubmed, doi:10.1002/ajmg.a.38369.
McIntosh P, Austin S, Sullivan J, Bailey L, Bailey C, Viskochil D, Kishnani PS. Three cases of multi-generational Pompe disease: Are current practices missing diagnostic and treatment opportunities? Am J Med Genet A. 2017 Oct;173(10):2628–2634.
Journal cover image

Published In

Am J Med Genet A

DOI

EISSN

1552-4833

Publication Date

October 2017

Volume

173

Issue

10

Start / End Page

2628 / 2634

Location

United States

Related Subject Headings

  • alpha-Glucosidases
  • Pedigree
  • Neonatal Screening
  • Mutation
  • Middle Aged
  • Male
  • Infant, Newborn
  • Infant
  • Humans
  • Glycogen Storage Disease Type II