Guide for families | Pompe's Bulletin | Caring for a child with Pompe's | Links | About us | Contact us | News The website of the Pompe's Group of the Association for Glycogen Storage Disease (UK) Are you are a patient - or a parent - who has been given a diagnosis of Pompe's disease Are you a healthcare professional who has a patient diagnosed with Pompe's If so, this page has an important ...

Glycogen Storage Disease Type II - Glycogen storage disease type II (GSDII), also referred to as Pompe disease, is an autosomal recessive disorder that results from the deficiency of acid alpha-glucosidase, a lysosomal hydrolase. The disease was first described by Pompe in 1932 when he was presented with a 7-month-old girl who died after developing idiopathic hypertrophic cardiomyopathy. Pompe ...