Recently, India’s first patient diagnosed with the Pompe disease died after spending nearly six years in a semi-comatose state. What is it? It is a rare inherited disorder that affects one child per million. Causes: Mutations in the GAA gene cause Pompe disease. The GAA gene provides instructions for producing an enzyme called acid alpha-glucosidase (also known as acid maltase). This enzyme is active in lysosomes, which are structures that serve as recycling centres within cells. The enzyme norm
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Pompe Disease: All You Should Know About This Genetic Disorder
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Sanofi Genzyme: Pompe Pearls • Ads of the World™ | Part of The Clio Network
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Pompe disease is a rare, progressive illness that shares symptoms with other neuromuscular conditions. Because of this, delays in diagnosis are common. Increasing awareness and education around #Pompe disease is vital to accelerate diagnosis. On #InternationalPompeDay, we are shining a light on the Pompe community and sharing their perspectives through the #PompePearls of wisdom initiative. Learn more as people living with Pompe disease share their experiences about living with this condition. |
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Did you know that Pompe disease can affect people differently? While the most common symptoms are muscle weakness and breathing problems that become more difficult over time, the way each person experiences Pompe disease is unique. | Astellas Pharma US
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