Pompe Disease: Symptoms, Causes, and Treatment

What Is Pompe Disease?

Pompe disease is a genetic disorder and is usually passed on to a child by the parents. However, your parents don’t necessarily have to be affected to pass the disease on to you as they may just be carriers.

Pompe disease is usually with no symptoms, so a person may not be aware that they have Pompe disease until proper diagnosis. This disease usually affects the liver, muscles, and heart. Common symptoms of pompe disease include;

If Pompe is left untreated in infants, it can lead to heart failure and consequent death. However, you can never tell unless a medical diagnosis is made.

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Pompe disease, also called type II glycogen storage disease and GAA deficiency, is an inherited disorder that leads to the buildup of a complex sugar called glycogen in the lysosomal cells of the body. This accumulation is due to the deficiency of the lysosomal acid alpha-glucosidase enzyme.

Causes of Pompe Disease

Pompe disease is an autosomal recessive metabolic disorder, meaning an individual has to get two mutated genes, one from each parent, to develop this disorder. A person may only carry one malfunctioning gene in some cases, and will be asymptomatic. However, such individuals will be carriers of the disease.

Signs and Symptoms Pompe disease

Infants who are one-year-old or younger usually suffer from infantile Pompe disease. The symptoms may include;

  • Difficulty in breathing
  • Difficulty in eating and gaining weight
  • Enlarged liver
  • Poor head and neck control
  • Enlarged tongue
  • Rolling over and/or sitting later than expected
  • Lung infections
  • Heart defects such as enlarged or thickening heart

Those who develop this disease at an older age suffer from late-onset Pompe disease. The symptoms may include:

  • Curvature of spine
  • Weakness in the legs, trunks, and arms
  • Difficulty in breathing
  • Enlarged liver
  • Joint stiffness
  • Enlarged tongue that can make chewing and swallowing difficult
  • Lung infections

Adults suffering from Pompe disease usually do not exhibit any cardiac malfunctions. Your doctor may carry out some other tests to properly confirm diagnosis since the symptoms of Pompe disease are similar to many other health conditions.

How to Diagnose Pompe Disease

Depending on your symptoms, your doctor may ask you to take any of the following tests to confirm Pompe diagnosis:

  • Test a muscle sample to check the levels of glycogen
  • Blood test to check the functionality of the acid alpha-glucosidase enzyme
  • Genetic testing to look for the faulty genes

Once you have been diagnosed with Pompe disease, your doctor may prescribe the required treatments.

Treatment of Pompe Disease

Treating Pompe disease promptly is the best way to prevent the disease from causing any damage to the body, especially in infants.

Doctors usually prescribe two medications to replace the missing protein in the body. Glycogen can be correctly and its accumulated prevented by undergoing enzyme replacement therapy (ERT).

The enzymes used for this therapy are:

  • Myozyme (for children and babies)
  • Lumizyme

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Pompe disease can be managed well when compared to several other disorders that may have severe consequences on your health. However, always remember that early detection and treatment is key to prevent Pompe disease from becoming harmful.


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