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About Pompe Disease
Pompe disease is a rare, inherited and often fatal disorder that disables the heart and muscles. It is caused by mutations in a gene that makes an enzyme called alpha-glucosidase (GAA). Normally, the body uses GAA to break down glycogen, a stored form of sugar used for energy. But in Pompe disease, mutations in the GAA gene reduce or completely eliminate this essential enzyme. Excessive amounts of glycogen accumulate everywhere in the body, but the cells of the heart and skeletal muscles are the most seriously affected. The disease commonly results in patients dying from respiratory failure after spending their remaining years wheelchair bound, on mechanical ventilation and being fed through a stomach tube.
Contacts
Tony Harris
[email protected] |
About Myozyme
Myozyme (alglucosidase alfa) contains an enzyme that naturally occurs in the body in healthy people. Alglucosidase alfa helps replace this missing enzyme. Myozyme has been the one and only treatment for the fatal Pompe disease since 2006. This medication is available in 76 countries around the world. Out of all of the OECD countries, only 3 refuse to fund Myozyme. Iceland, Austria and New Zealand.
About the New Zealand Pompe Network
The New Zealand Pompe Network (NZPN) was started by Pompe disease patients in 2011. We are officially a non-profit society committed to supporting Pompe sufferers and their families. |