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David Cracc @davidcracc adicionou um novo artigo in Health
2025-02-12 11:47:48 · Traduzir ·

Evolving Strategies in Managing Pompe Disease

Pompe disease, also known as glycogen storage disease type II, is a rare genetic disorder caused by mutations in the GAA gene, which leads to the deficiency of acid alpha-glucosidase enzyme. This enzyme is critical for breaking down glycogen into glucose within lysosomes. The root cause of Pompe disease lies in the accumulation of glycogen in cells, particularly in muscle tissues,...

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David Cracc @davidcracc adicionou um novo artigo in Health
2025-02-13 10:56:55 · Traduzir ·

How Personalized Medicine is Shaping Pompe Disease Therapies

Pompe disease is a rare, inherited genetic disorder caused by a deficiency in the enzyme acid alpha-glucosidase (GAA), which is responsible for breaking down glycogen in the body. The inability to degrade glycogen leads to its accumulation in tissues, especially in the heart and muscles, resulting in progressive muscle weakness, respiratory failure, and heart problems. While significant...

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