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Pompe Disease Symptoms

Updated on January 24, 2010
pompe disease symptoms
pompe disease symptoms

Pompe disease is caused by the accumulation of glycogen in the body's cells, especially targeting muscles, and making them unable to function normally. Pompe disease is caused by the deficiency of the acid maltase enzyme. This causes eventual damage and destruction to muscles, and damage to the heart and liver and other Pompe Disease Symptoms.

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Debilitating Pompe Disease

 Infants with this disease exhibit symptoms such as

  • muscle weakness
  • an enlarged liver and heart causing heart failure.
  • hard to gain weight
  • exhibit breathing problems.
  • Can't eat well
  • Difficulty swallowing
  • abnormally enlarged tongue
  • Find it hard to hold up the head


 Most children with this form of Pompe disease do not survive beyond the age of 2. The disease usually affects children, with symptoms not long after birth. Without treatment, afflicted children usually live only a few years. Pompe disease has many other names including Acid Maltase Deficiency Disease, type II glycogen storage disease, Glycogenosis Type II, Deficiency of alpha-glucosidase, etc.

Adult Pompe disease symptoms:

  • difficulty walking or climbing stairs
  • general muscle weakness

Like Pompe disease, all lysosomal storage disorders have the common behaviours:

  • Genetic in basis
  • Result in the storage, or accumulation, of substances within cell lysosomes
  • Are progressive in nature
  • Can be life-threatening
  • Can be challenging to diagnose


It is also extremely necessary to have frequent check-ups and medical evaluations as the disease can progress rapidly. As the disease progresses, individuals become wheelchair dependent or bedridden, and may require a respirator to breathe. Be careful of these Pompe Disease Symptoms and talk to your doctor about treatments.

Pompe disease or the lack of an enzyme called acid maltase, Glycongen builds up in the body's cells and causes damage in the body. The body has a problem breaking down complex sugars in the lysosomes into easily digestible sugar (glucose). The cause of this is a defect in an enzyme known as acid alpha glucosidase (GAA). Glycogen piles up and disrupts the normal functions of the lysosome. Overabundance of glycogen accumulates in the heart and other muscles of the body. The growing deposits force the lysosomes to continually enlarge. Eventually, they break down. This disrupts the function of the cells and organs in which they're located.

Inspirational interview about Pompe Disease

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