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Pompe disease or GAA deficiency (glycogen storage disease type II, GSD II, glycogenosis type II, acid maltase deficiency) is an inherited disorder of glycogen metabolism caused by the absence or marked deficiency of the lysosomal enzyme GAA. Learn more about our Pompe disease therapy management.
Pompe disease is a rare and severely debilitating disorder that drastically reduces a person’s muscle and respiratory function. People with Pompe disease typically experience progressive muscle weakness and breathing difficulty. Symptoms can appear within a few months of birth or during childhood, adolescence, or adulthood.
Accredo has been working with lysosomal storage disorder (LSD) therapies since 1991 and has gained extensive experience that serves as a valuable resource to our patients.
Referrals
Other Resources:
Genzyme Corporation
Myozyme.com
NORD - National Organization for Rare Diseases
Pompe Community Website
Myozyme is a registered trademark of Genzyme Corporation.
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