What is pompe disease?

Q:
What is pompe disease?
A:
Pompe disease is a genetic disease. It occurs when there is not enough or not any of the enzyme. An enzyme is a protein that causes a specific chemical change within the body. The people who get this disease inherit it from a parent. In fact, the disease is a very rare one.

Symptoms

  • Weak muscles
  • Poor muscle tone
  • Enlarged liver
  • Failure to gain weight and grow at the expected rate (failure to thrive)
  • Trouble breathing
  • Feeding problems
  • Infections in the respiratory system
  • Problems with hearing

Treatment

Early treatment, especially for babies, is key to holding off the damage in the body. Two medications replace the missing protein and help your body process sugar correctly. You take them by injection.

  • Myozyme, for babies and children
  • Lumizyme

Keywords: pompe disease;inherit;protein

 

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