Discussion :
Pompe's disease. Pompe disease is a rare genetic disorder caused by a deficiency in the enzyme acid alpha-glucosidase (GAA), which is needed to break down glycogen. The build-up of glycogen causes progressive muscle weakness throughout the body and affects various body tissues, particularly in the heart, skeletal muscles, liver, and nervous system. Pompe disease has three forms defined by age of onset and progression of symptoms namely infantile, juvenile and adult. Treatment is supportive. |
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Last Shown : Jun 2006
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