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Mol Genet Metab. 2013 Feb;108(2):142-4. doi: 10.1016/j.ymgme.2012.11.013. Epub 2012 Nov 29.

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

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  • 1Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.


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.

Copyright © 2012. Published by Elsevier Inc.

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