Journal
SEMINARS IN NEUROLOGY
Volume 32, Issue 5, Pages 506-511Publisher
THIEME MEDICAL PUBL INC
DOI: 10.1055/s-0033-1334469
Keywords
Pompe's disease; acid maltase deficiency; lysosomal storage disease; glycogen storage disease type II
Categories
Ask authors/readers for more resources
Glycogen storage disease type II, also known as Pompe's disease or acid maltase deficiency, is caused by a deficiency in acid alpha-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 alpha-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
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available