Low anal sphincter tone in infantile-onset Pompe Disease: an emerging clinical issue in enzyme replacement therapy patients requiring special attention.

Journal Article (Journal Article)

Pompe Disease (PD) is a lysosomal storage disease caused by acid α-glucosidase deficiency. The infantile form typically results in death in the first year of life. Patient survival has improved with enzyme replacement therapy (ERT), but new complications are being recognized. We report three cases of infantile onset PD on ERT who present with a new finding of poor anal tone, a finding that requires special attention for further complications such as rectal prolapse.

Full Text

Duke Authors

Cited Authors

  • Tan, QK-G; Cheah, SM; Dearmey, SM; Kishnani, PS

Published Date

  • February 2013

Published In

Volume / Issue

  • 108 / 2

Start / End Page

  • 142 - 144

PubMed ID

  • 23266370

Electronic International Standard Serial Number (EISSN)

  • 1096-7206

Digital Object Identifier (DOI)

  • 10.1016/j.ymgme.2012.11.013


  • eng

Conference Location

  • United States