What is Pompe Disease?

Pompe disease, or glycogen storage diease type II (GSD type II), acid maltase deficiency, or acid alpha-glucosidase (GAA) deficiency, is a rare disease caused by mutations in the GAA gene. Even though Pompe disease affects only about 1 in 40.000 people in the United States, its existence still cannot be ignored because it is a treatable disease. The condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of mutated gene, but they typically do not show signs and symptoms of the condition. Normally, the GAA gene provides instructions for producing an enzyme called acid-alpha glucosidase (acid maltase).

This enzyme is actives within cell (lysosome), which breaks down glycogen into a simpler sugar called glucose, which is the main energy source for most cells. Mutations in the GAA gene prevent acid alpha-glucosidase from breaking down glycogen effectively. Therefore, the buildup of glycogen damages organs and tissues throughout the body, particularly the muscles, such as limb muscles, even breathing and cardiac muscles, leading to the progressive signs and symptoms of Pompe disease.

Based on its severity and the age at which they appear, there are three types of Pompe disease. These types are known as classic infantile-onset, non-classic infantile onset, and late-onset. The classic form of infantile-onset Pompe disease is the most severe type. The signs and symptoms of this type begin within a few months of birth. Infants with this disorder typically experience generalized muscle weakness, generalized poor muscle tone an enlarged liver (hepatomegaly), and heart failure. Affected infants may have higher risk to have a failure to thrive and breathing problems. If untreated, this type of Pompe disease leads to death from heart failure in the first year of life.

The non-classic form infantile-onset Pompe disease is usually less severe than classic type. The signs and symptoms usually appear by age 1. It is characterized by delayed motor skills (rolling over and sitting), and progressive muscle weakness. The buildup of glycogen also happen in breathing muscle leading to breathing problems and in the cardiac muscle leading to cardiomegaly. The last one is the late-onset type of Pompe disease which is the mildest one. The signs and symptoms may not be apparent until later in childhood, adolescence, or adulthood. The patients still experience progressive muscle weakness, but breathing and cardiac problems are rarely happening.

To confirm the diagnosis of Pompe disease, enzymatic and genetic testing must be done. Additional examinations such as lung and heart examinations, muscle strength (electromyography) may also be useful to help diagnosis.
Pompe disease can be treated in Indonesia. Since 2006, Food and Drug Administration (FDA) had approved an enzyme replacement therapy using Myozyme for Pompe disease. This enzyme should be given two times a month to control and stabilize patient conditions. Pompe patient will be evaluated by an integrated healthcare team. Pediatricians from the nutrition and metabolic disease division as the leader of the team is accompanied by other doctors from cardiologist, pulmonologist, neurologist, physiotherapist, and etc.

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