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International Pompe Day falls in April, and aims to raise awareness of Pompe Disease. Pompe disease is a rare genetic disorder that causes progressive weakness to the heart and muscles, with mutations in the gene that makes an enzyme called acid alpha-glucosidase (GAA), which the body uses to break down glycogen (a stored form of sugar used for energy). Monique Nel, Medical Advisor for Rare Diseases at Sanofi, chats to Leigh-Anne Williams about this disease, the signs to look out for as well as where individuals can get more information and support too.
By Good Hope FMInternational Pompe Day falls in April, and aims to raise awareness of Pompe Disease. Pompe disease is a rare genetic disorder that causes progressive weakness to the heart and muscles, with mutations in the gene that makes an enzyme called acid alpha-glucosidase (GAA), which the body uses to break down glycogen (a stored form of sugar used for energy). Monique Nel, Medical Advisor for Rare Diseases at Sanofi, chats to Leigh-Anne Williams about this disease, the signs to look out for as well as where individuals can get more information and support too.