What is Pompe disease?

Pompe disease is a genetic disease that occurs when there is not enough or not any of the enzyme called alpha-glucosidase. An enzyme is a protein that causes a specific chemical change within the body. Alpha-glucosidase breaks down complex sugars in the body. In people with Pompe disease, sugars build up in the muscles, causing the muscles to break down. Pompe disease is also known by other names. Some of these include:

  • Acid maltase deficiency (AMD)
  • Alpha-1, 4-glucosidase deficiency
  • GAA deficiency
  • Glycogenosis type II
  • Glycogen storage disease type II
  • Pompe's disease

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 one 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 a very rare one. In fact, in the U.S., only 1 person in 40,000 is affected by Pompe disease.

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