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The emerging phenotype of late-onset Pompe disease: A systematic literature review.

Publication ,  Journal Article
Chan, J; Desai, AK; Kazi, ZB; Corey, K; Austin, S; Hobson-Webb, LD; Case, LE; Jones, HN; Kishnani, PS
Published in: Mol Genet Metab
March 2017

BACKGROUND: Pompe disease is an autosomal recessive disorder caused by deficiency of the lysosomal glycogen-hydrolyzing enzyme acid α-glucosidase (GAA). The adult-onset form, late-onset Pompe disease (LOPD), has been characterized by glycogen accumulation primarily in skeletal, cardiac, and smooth muscles, causing weakness of the proximal limb girdle and respiratory muscles. However, increased scientific study of LOPD continues to enhance understanding of an evolving phenotype. PURPOSE: To expand our understanding of the evolving phenotype of LOPD since the approval of enzyme replacement therapy (ERT) with alglucosidase alfa (Myozyme™/Lumizyme™) in 2006. METHODS: All articles were included in the review that provided data on the charactertistics of LOPD identified via the PubMed database published since the approval of ERT in 2006. All signs and symptoms of the disease that were reported in the literature were identified and included in the review. RESULTS: We provide a comprehensive review of the evolving phenotype of LOPD. Our findings support and extend the knowledge of the multisystemic nature of the disease. CONCLUSIONS: With the advent of ERT and the concurrent increase in the scientific study of LOPD, the condition once primarily conceptualized as a limb-girdle muscle disease with prominent respiratory involvement is increasingly recognized to be a condition that results in signs and symptoms across body systems and structures.

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Published In

Mol Genet Metab

DOI

EISSN

1096-7206

Publication Date

March 2017

Volume

120

Issue

3

Start / End Page

163 / 172

Location

United States

Related Subject Headings

  • alpha-Glucosidases
  • Treatment Outcome
  • Respiratory Muscles
  • Phenotype
  • Male
  • Humans
  • Glycogen Storage Disease Type II
  • Genetics & Heredity
  • Female
  • Enzyme Replacement Therapy
 

Citation

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Chan, J., Desai, A. K., Kazi, Z. B., Corey, K., Austin, S., Hobson-Webb, L. D., … Kishnani, P. S. (2017). The emerging phenotype of late-onset Pompe disease: A systematic literature review. Mol Genet Metab, 120(3), 163–172. https://doi.org/10.1016/j.ymgme.2016.12.004
Chan, Justin, Ankit K. Desai, Zoheb B. Kazi, Kaitlyn Corey, Stephanie Austin, Lisa D. Hobson-Webb, Laura E. Case, Harrison N. Jones, and Priya S. Kishnani. “The emerging phenotype of late-onset Pompe disease: A systematic literature review.Mol Genet Metab 120, no. 3 (March 2017): 163–72. https://doi.org/10.1016/j.ymgme.2016.12.004.
Chan J, Desai AK, Kazi ZB, Corey K, Austin S, Hobson-Webb LD, et al. The emerging phenotype of late-onset Pompe disease: A systematic literature review. Mol Genet Metab. 2017 Mar;120(3):163–72.
Chan, Justin, et al. “The emerging phenotype of late-onset Pompe disease: A systematic literature review.Mol Genet Metab, vol. 120, no. 3, Mar. 2017, pp. 163–72. Pubmed, doi:10.1016/j.ymgme.2016.12.004.
Chan J, Desai AK, Kazi ZB, Corey K, Austin S, Hobson-Webb LD, Case LE, Jones HN, Kishnani PS. The emerging phenotype of late-onset Pompe disease: A systematic literature review. Mol Genet Metab. 2017 Mar;120(3):163–172.
Journal cover image

Published In

Mol Genet Metab

DOI

EISSN

1096-7206

Publication Date

March 2017

Volume

120

Issue

3

Start / End Page

163 / 172

Location

United States

Related Subject Headings

  • alpha-Glucosidases
  • Treatment Outcome
  • Respiratory Muscles
  • Phenotype
  • Male
  • Humans
  • Glycogen Storage Disease Type II
  • Genetics & Heredity
  • Female
  • Enzyme Replacement Therapy