POMPE DISEASE Meaning and
Definition
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Pompe disease, also referred to as glycogen storage disease type II or acid maltase deficiency, is a rare genetic disorder characterized by the body's inability to break down a complex sugar called glycogen. This condition is caused by a deficiency of the enzyme acid alpha-glucosidase, which is responsible for breaking down glycogen into glucose, a simple form of sugar that provides energy to the body's cells.
The accumulation of glycogen impairs the normal functioning of various organs and tissues, particularly muscles, leading to progressive muscle weakness and dysfunction. Affected individuals may experience muscle stiffness, weakness, and fatigue, which can affect their ability to perform daily activities. Respiratory problems, including difficulty breathing and a weakened diaphragm, may also occur, resulting in respiratory failure. In severe cases, Pompe disease can lead to heart enlargement and impair cardiac function, which can be life-threatening.
Symptoms of Pompe disease may present in infancy, childhood, or adulthood, varying in severity and rate of progression. While there is currently no cure for Pompe disease, treatment options include enzyme replacement therapy to supplement the deficient enzyme and reduce glycogen accumulation. Early diagnosis and intervention can help manage symptoms and improve quality of life for those affected. Additionally, supportive care such as respiratory and physical therapies are often utilized to address specific symptoms and complications associated with the disease.
Common Misspellings for POMPE DISEASE
- oompe disease
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Etymology of POMPE DISEASE
The word "Pompe" in "Pompe Disease" is named after Dr. Johannes Pompe, a Dutch pathologist who first described the disease in 1932. Dr. Pompe identified the disease while studying a 7-month-old infant who had died from a progressive muscle disorder characterized by glycogen accumulation in various tissues. As a result, the condition came to be known as Pompe Disease to honor his contribution in its recognition and understanding.
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