Late-onset Pompe's disease

Semin Neurol. 2012 Nov;32(5):506-11. doi: 10.1055/s-0033-1334469. Epub 2013 May 15.


Glycogen storage disease type II, also known as Pompe's disease or acid maltase deficiency, is caused by a deficiency in acid α-glucosidase. Severe enzyme deficiency results in infantile Pompe's disease with multiorgan involvement; a partial deficiency produces a less severe phenotype mainly consisting of a myopathy, with a later age of onset. Treatment is now available with intravenous infusion of recombinant acid α-glucosidase. Such treatment results in marked improvement in patients with infantile Pompe's disease, and modest improvement or stabilization in patients with late-onset Pompe's disease.

Publication types

  • Review

MeSH terms

  • Age of Onset
  • Disease Progression
  • Glycogen Storage Disease Type II / diagnosis*
  • Glycogen Storage Disease Type II / drug therapy*
  • Glycogen Storage Disease Type II / enzymology
  • Humans
  • Treatment Outcome
  • alpha-Glucosidases / deficiency*
  • alpha-Glucosidases / metabolism


  • alpha-Glucosidases