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WebPompe disease is a genetic disorder in which complex sugar called glycogen builds up in the body’s cells. The disease results from the deficiency of an enzyme called acid alfa glucosidase (GAA), which breaks downs complex sugars in the body. This buildup occurs in organs and tissues, especially in muscles, causing them to break down. WebOct 6, 2024 · A shortage or dysfunction of GAA causes glycogen to accumulate within the lysosomes, which subsequently leads to cellular malfunction, cellular damage, tissue damage, and ultimately organ dysfunction. In Pompe disease, the organ dysfunction is mainly manifested by muscle weakness and muscle wasting. Pompe disease is not only … sensex highest ever

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WebBệnh Pompe hay bệnh dự trữ glycogen loại 2 là bệnh lý di truyền thiếu hụt enzyme acid alpha-glucosidase (GAA) trong tiêu thể khiến việc phân hủy glycogen trong tiêu thể thành glucose không thể thực hiện dẫn tới sự tích tụ glycogen trong các tế bào. Điều này làm giảm khả năng hoạt động bình thường của một số cơ ... WebWhat is Pompe disease? Pompe disease happens when children are missing all or some GAA. GAA is an enzyme needed to break down glycogen (a large sugar) into glucose (the form of sugar that the body uses for energy). When glycogen is not broken down properly, it builds up in the body and can cause health problems. WebProSpec Technologies Inc. is proud to offer the best in fluid handling products and services, backed with unparalleled technical expertise and customer support. Our website contains … sensex historical trend