Pompe illness is a rare metabolic dysfunction. It’s marked by a deficiency in lysosomal alpha-glucosidase. Your physique wants this enzyme to interrupt down saved glucose, which known as glycogen. When your physique can’t break it down, glycogen accumulates within the muscle groups. This buildup makes it laborious for muscle groups to operate correctly.
Signs of Pompe illness can present up in infancy or early maturity. Pompe can also be known as acid maltase deficiency or glycogenosis sort 2. The speed of development varies from individual to individual.
The primary symptom is profound muscle weak point. This weak point will be so extreme that it interferes with mobility. In some circumstances, individuals with Pompe illness might have a tough time sitting up with out help. The situation can even have an effect on the respiratory system and the muscle groups used for chewing and swallowing.
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