What is Pompe disease?

Pompe disease is a genetic disorder in which complex sugar called glycogen builds up in the body’s cells. The disease results from the deficiency of an enzyme called acid alfa glucosidase (GAA), which breaks downs complex sugars in the body. This buildup occurs in organs and tissues, especially in muscles, causing them to break down.

Mutations in the GAA gene, which helps break down glycogen, cause this disorder.

What are the types of Pompe disease?

There are three types of Pompe disease:

  • Classic infantile-onset appears within a few months of birth.
  • Non-classic infantile-onset appears at about 1 year of age.
  • Late-onset appears later in a child’s life, or even into the teen years or adulthood.

Who gets Pompe disease?

Since this is a genetic condition, the people who get this disease inherit it from a parent. It is common, however, that neither parent shows any symptoms. The disease is rare. In the United States, only 1 person in 40,000 is affected by Pompe disease. It can affect both males and females of all ethnic groups.

What are the symptoms of each type of Pompe disease?

Symptoms can be a bit different, depending on when the disease makes itself present. In infants, symptoms include the following:

Classic type:

  • 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

Non-classic type:

  • Motor skills delayed (such as rolling over and sitting)
  • Muscles get steadily weaker
  • Abnormally large heart
  • Breathing problems

Late-onset type, which includes adult-onset:

  • The legs and the trunk get steadily weaker.
  • Breathing problems
  • Enlarged heart
  • Increasing difficulty in walking
  • Muscle pain over a large area
  • Loss of the ability to exercise
  • Falling often
  • Frequent lung infections
  • Shortness of breath when the person pushes himself or herself
  • Headaches in the morning
  • Becoming tired during the day
  • Losing weight
  • Cannot swallow as easily as before
  • Irregular heart beat
  • Increased difficulty hearing
  • Higher levels of creatine kinase (CK) , an enzyme that helps the body’s functions work and provides energy to cells

Last reviewed by a Cleveland Clinic medical professional on 04/02/2019.

References

  • Genetics Home Reference. Pompe disease. Accessed 7/5/2019.
  • National Organization of Rare Disorders. Pompe disease. Accessed 7/5/2019.
  • Baby’s First Test. Pompe. Accessed 7/5/2019.
  • Acid Maltase Deficiency Association. What is AMD? Accessed 7/5/2019.
  • Di Iorio, G., Cipullo, F., Stromillo, L., Soldana, L., Capone, E., & Farina, O. (2011, December 30). S1.3 Adult-onset Pompe disease. Acta Myologica, 200-202

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