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Alglucosidase alfa enzyme replacement therapy as a therapeutic approach for glycogen storage disease type III.

Publication ,  Journal Article
Sun, B; Fredrickson, K; Austin, S; Tolun, AA; Thurberg, BL; Kraus, WE; Bali, D; Chen, Y-T; Kishnani, PS
Published in: Mol Genet Metab
February 2013

We investigated the feasibility of using recombinant human acid-α glucosidase (rhGAA, Alglucosidase alfa), an FDA approved therapy for Pompe disease, as a treatment approach for glycogen storage disease type III (GSD III). An in vitro disease model was established by isolating primary myoblasts from skeletal muscle biopsies of patients with GSD IIIa. We demonstrated that rhGAA significantly reduced glycogen levels in the two GSD IIIa patients' muscle cells (by 17% and 48%, respectively) suggesting that rhGAA could be a novel therapy for GSD III. This conclusion needs to be confirmed in other in vivo models.

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Published In

Mol Genet Metab

DOI

EISSN

1096-7206

Publication Date

February 2013

Volume

108

Issue

2

Start / End Page

145 / 147

Location

United States

Related Subject Headings

  • alpha-Glucosidases
  • Treatment Outcome
  • Muscle, Skeletal
  • Middle Aged
  • Male
  • Humans
  • Glycogen Storage Disease Type III
  • Glycogen
  • Genetics & Heredity
  • Female
 

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Sun, B., Fredrickson, K., Austin, S., Tolun, A. A., Thurberg, B. L., Kraus, W. E., … Kishnani, P. S. (2013). Alglucosidase alfa enzyme replacement therapy as a therapeutic approach for glycogen storage disease type III. Mol Genet Metab, 108(2), 145–147. https://doi.org/10.1016/j.ymgme.2012.12.002
Sun, Baodong, Keri Fredrickson, Stephanie Austin, Adviye A. Tolun, Beth L. Thurberg, William E. Kraus, Deeksha Bali, Yuan-Tsong Chen, and Priya S. Kishnani. “Alglucosidase alfa enzyme replacement therapy as a therapeutic approach for glycogen storage disease type III.Mol Genet Metab 108, no. 2 (February 2013): 145–47. https://doi.org/10.1016/j.ymgme.2012.12.002.
Sun B, Fredrickson K, Austin S, Tolun AA, Thurberg BL, Kraus WE, et al. Alglucosidase alfa enzyme replacement therapy as a therapeutic approach for glycogen storage disease type III. Mol Genet Metab. 2013 Feb;108(2):145–7.
Sun, Baodong, et al. “Alglucosidase alfa enzyme replacement therapy as a therapeutic approach for glycogen storage disease type III.Mol Genet Metab, vol. 108, no. 2, Feb. 2013, pp. 145–47. Pubmed, doi:10.1016/j.ymgme.2012.12.002.
Sun B, Fredrickson K, Austin S, Tolun AA, Thurberg BL, Kraus WE, Bali D, Chen Y-T, Kishnani PS. Alglucosidase alfa enzyme replacement therapy as a therapeutic approach for glycogen storage disease type III. Mol Genet Metab. 2013 Feb;108(2):145–147.
Journal cover image

Published In

Mol Genet Metab

DOI

EISSN

1096-7206

Publication Date

February 2013

Volume

108

Issue

2

Start / End Page

145 / 147

Location

United States

Related Subject Headings

  • alpha-Glucosidases
  • Treatment Outcome
  • Muscle, Skeletal
  • Middle Aged
  • Male
  • Humans
  • Glycogen Storage Disease Type III
  • Glycogen
  • Genetics & Heredity
  • Female