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Pompe Disease – Causes, Diagnosis and Treatment

The treatment of Pompe disease consists basically of psychological support (both to the patient and their relatives and caregivers) and in the use of enzyme replacement therapy (TSE). This is because, to date, there is no other type of treatment available.

For now, the goal is that the patient does not feel helpless, therefore, seeks to help you lead a normal life.

Pompe disease is similar to other neuromuscular diseases. It is characterized by progressive deterioration; that is, the symptoms double. It is also known by other names such as:

  • Type II glycogen storage disease.
  • Acid alpha-glucosidase deficiency.
  • Acid maltase deficiency.

It should be noted that, the first time a case of Pompe’s disease was evidenced, it occurred when observing that a baby had evident muscle weakness and the size of his heart It was much bigger than the average.

In this regard, it is important to note that, in the case of babies, the evolution of the disease is so fast that, if not treated in time, they do not live more than 1 year with the disease. On the other hand, when the symptoms appear in advanced childhood or in adulthood, the degenerative process is slower. However, there are severe cases.


When people have an irregularity in a gene called GAA, which is responsible for producing the acid alpha-glucosidase enzyme, which is in a compartment called lysosome, occurs Pompe disease. But what is the enzyme responsible for? Its function is to degrade a kind of sugar, which adheres to the body’s muscle cells; that is, glycogen. Therefore, people who suffer from Pompe disease do not have this enzyme.

How is it inherited?

A baby inherits the genes of the mother and father equally. When Pompe’s disease occurs, it means that there is autosomal recessive inheritance, that is, the two parents have a mutated or altered GAA gene. Therefore, if the two genes are mutated there is no risk of suffering from the disease.

In the meantime, if one gene is normal and the other is mutated, it means that the person will be a carrier. In this case, when the person is a carrier, the disease will not develop but it is possible that it is transmitted to their offspring.

There are cases in which both parents have the disease as well as their children. While when one of the parents has the disease and the other parent is a carrier, there is a 50% probability that he inherits or is a carrier.

Treatment of Pompe disease

The treatment of Pompe disease consists in the use of the technique called: enzyme replacement therapy (TSE). It is a technique that is responsible for replacing the missing enzyme; that is, one of the lysosomal enzymes: alpha-glucosidase or GAA.

Due to its absence, glycogen accumulates in the lysosomes of the cell, which in turn causes alterations in muscle tissue, for example:

  • Cardiac
  • Skeletal
  • Respiratory
  • Tube digestive
  • Blood vessels

Nevertheless, Thanks to the TSE, the patient receives a regular amount of the enzyme. The treatment is done intravenously. In this way, the enzyme can reach the muscles, with the aim of breaking down the glycogen that accumulates in cells and causes damage.

Once the patient is diagnosed with Pompe disease, he merits life-long treatment at regular intervals (twice a month). Talking about the dose, this will depend on the condition of each patient.

What is Myozyme?

It is considered the only approved TSE treatment for Pompe disease. Medically it is a white powder that dissolves in an intravenous infusion of serum. This substance contains 50 mg of alglucosidase alfa, which is obtained through a technological process of DNA.

What is the dose?

It is extremely important that the treatment of Pompe disease be guided by a specialist: pediatrician, geneticist or neurologist. Although it depends on the stage of the disease and the condition of each patient. It is usually indicated 1 time every 2 weeks, with an average dose of 20 mg per kilo. This medication is for children and adults.

What is the process?

Once Myozyme is applied intravenously, it is transported through the bloodstream to a place called “interstitial space”. The drug reaches the microscopic region of the muscle cell, that is, the lysosome. That is the space where glycogen accumulates and Myozyme breaks it down.

Dr. Barbra Romero states that, in some treatment centers for Pompe disease in which the TSE is administered, there is a program of Psychological Support that addresses the difficulties that arise with the treatment, since A good acceptance of the TSE is of vital importance to improve the prognosis of patients.

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