What is Pompe's Disease?

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  • Written By: Mary McMahon
  • Edited By: O. Wallace
  • Last Modified Date: 01 November 2018
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Pompe's disease is a rare genetic condition characterized by muscle weakness and damage to the heart, which can eventually lead to death for the patient. This condition is recessive in nature, meaning that children must inherit the defective gene from both parents in order to develop Pompe's disease. There are several treatment options for this condition which can be used to manage it and to keep the patient more comfortable, and to slow the progression of the disease.

Also known as glycogen storage disease type II or acid maltase deficiency, this condition is caused by a deficiency in an enzyme which helps the body break down glycogen, a complex sugar. In patients who totally lack the acid alpha-glucosidase (GAA) enzyme, Pome's disease can be very severe, and is usually fatal before the patient's first birthday. Patients with an enzyme deficiency may experience a later onset of the disease and less severe symptoms.

The condition is named for a Dutch physician who first described it in the 1930s. In patients with a GAA deficiency, glycogen starts to build up in the muscles, rather than being broken down and dispersed. Over time, the enzyme starts to leak from the muscles, causing severe damage which leads to muscle weakness. The heart muscle becomes enlarged, and the patient's respiratory muscles can also be affected,which can be very dangerous.


In early onset, also known as infantile, forms of the disease, patients experience heart enlargement and muscle weakness which becomes apparent within a few months of birth. If the heart is severely enlarged and the respiratory muscles are involved, early onset Pompe's disease is usually fatal. Late onset Pompe's disease, which appears in adolescence or adulthood, can be treatable with enzyme replacement combined with exercise and a high protein diet. The later the onset, the better the prognosis for the patient.

A diagnosis usually requires the experience of a geneticist, who can also provide advice about treatment options. In cases of infantile Pompe's disease, enzyme replacement can keep the patient more comfortable and prolong his or her life, especially if treatment is provided early. Parents who learn that they are carriers of the gene may want to discuss their options with a geneticist if they intend to have additional children, and asymptomatic children of carriers may want to be tested to determine whether or not they are carriers as well, as this information may be important.



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