title: Late-onset Pompe's disease.
abstract: 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.
authors.affiliation: Department of Neurology, University of Michigan Health System, Ann Arbor, Ann Arbor, MI 48109-5036, USA. jteener@med.umich.edu
authors.forename: James W
authors.initials: JW
authors.lastname: Teener
mesh_terms: D017668:Age of Onset; D018450:Disease Progression; D006009:Glycogen Storage Disease Type II / Q000175:diagnosis* / Q000188:drug therapy* / Q000201:enzymology; D006801:Humans; D016896:Treatment Outcome; D000520:alpha-Glucosidases / Q000172:deficiency* / Q000378:metabolism
chemical_list: D000520:alpha-Glucosidases