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Pompe disease

Pompe disease or type II glycogenosis is a neuromuscular disorder that develops progressively. In addition, it is   debilitating and many ti...

Pompe disease or type II glycogenosis is a neuromuscular disorder that develops progressively. In addition, it is  debilitating and many times, lethal. It occurs when there is a deficiency of the lysosomal enzyme alpha-glucosidase. In this way, it is one of the most frequent diseases due to glycogen storage.

This disease occurs when there is an accumulation of lysosomal glycogen in cells and tissues. Which affects the skeletal muscle, cardiac and respiratory musculature.

Generally speaking, there is weakness in the extremities, cardiomyopathy, smooth muscle involvement and ventilatory failure. All this causes an obvious gastrointestinal discomfort. Actually, this disease can start at any stage of life and the symptoms are very varied. If the diagnosis is made in time, there is treatment for the disease.

What is glycogen?

Pompe disease

It is a whitish substance that is found mostly in the liver and muscles. Glycogen can be transformed into glucose when the body requires it . That is, when the body needs energy. When glycogen is converted to glucose by glycogenolysis, the muscle uses it to contract. The substance is released into the blood to maintain blood glucose, which tissues also use.

What is acid glucose?

This substance, also called glucosidase or acid maltase, is an enzyme that is responsible for breaking down glycogen , that is, it produces glucose within the cellular lysosome.

What is the cellular lysosome?

It is a compartment made up of enzymes , which break down and degrade large molecules, in this case glycogen. These enzymes are called acid hydrolases.

 How is Pompe’s disease produced?

Pompe disease

Pompe disease is hereditary , as it is transmitted by parents who carry mutations in the GAA gene. When both parents transmit this mutation to their children, they will inevitably develop Pompe disease.

symptom

Although Pompe’s disease occurs at different stages of life, the symptoms have something in common: progressive muscle weakness. Those affected may be children (more severe cases) up to the late variety in adulthood. However, in order to analyze the symptoms, it is necessary to take into account the age at which it manifests itself, the damage to both the muscles and the organs.

Classification

Classical children

It is the most aggressive form in which the disease occurs. Symptoms manifest during the first 6 months of life. Among them:

  • Muscular weakness (myopathy). The baby has little strength and can not keep his head up for long periods.
  • Its motor development is slow.
  • It is very difficult to crawl, sit or stand up.
  • They have respiratory problems.
  • Exaggerated liver and heart size. In addition to thickening in the tongue.
  • The affected person has difficulty gaining weight.
  • Heart failure

No classic children

Pompe disease

Usually this form is presented to the year of life. Its main symptoms are:

  • Delay in motor development.
  • The heart is larger than the average (cardiomegaly)
  • Heart problems.

Late

This form is characterized by the fact that Pompe disease can appear in advanced childhood, adolescence and even adulthood. Fortunately it is lighter than the previous forms and also the risk of affecting the heart is much lower. These are the most common symptoms:

  • Low physical performance
  • Problems when walking.
  • Curves are usually present in the column.
  • Headaches and drowsiness during the day.
  • Progressive muscle weakness (legs and trunk).
  • Experimentation of frequent falls and muscle pain.
  • It weakens the diaphragm causing respiratory problems.

Diagnosis

In the case that there is clinical suspicion that the patient has Pompe disease, the following is done:

  • Muscle biopsy.
  • An electrophysiological examination is indicated.
  • Assessment of muscle strength and gait.
  • Analysis of acid α-glucosidase in lymphocytes.
  • Measurement of respiratory flows and volumes.
  • Evaluation of glucose tetrasaccharide in urine.
  • Genetic study of mutations in the GAA gene.

To conclude, it is important to know that there is treatment to lead a normal life. In addition to various associations around the world that will help the patient not feel helpless.

References

Pompe disease or type II glycogenesis. University of Barcelona. Catalonia.

Antonio Bravo-Oro. Diagnosis and treatment in Pompe disease: study of the disease. Mexico: 2013.

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