Cardiomyopathy in Pompe's disease

Eur J Intern Med. 2008 Jan;19(1):57-9. doi: 10.1016/j.ejim.2007.09.018. Epub 2007 Nov 26.

Abstract

Pompe's disease (glycogen storage disease type II) is a lysosomal storage disorder resulting from a deficiency in alpha 1, 4 glucosidase. Prognosis is poor because of heart involvement. Treatment in adult form relies on supportive therapy. Enzyme replacement therapy with recombinant human alpha glucosidase remains a hope for patients.

Publication types

  • Review

MeSH terms

  • Cardiomyopathies / etiology*
  • Cardiomyopathies / physiopathology*
  • Cardiomyopathies / therapy
  • Glycogen Storage Disease Type II / complications*
  • Glycogen Storage Disease Type II / physiopathology*
  • Glycogen Storage Disease Type II / therapy
  • Humans