Diseases
Pompe Disease
For healthcare professionals — reference only. This page is a brief summary, not medical advice and not a substitute for official labeling or clinical judgement. Always verify before prescribing or dispensing.
Overview
Pompe disease is a genetic disorder in which complex sugar called glycogen builds up in the body’s cells. The disease results from the deficiency of an enzyme called acid alfa glucosidase (GAA), which breaks downs complex sugars in the body. This buildup occurs in organs and tissues, especially in muscles, causing them to break down.
Symptoms
- Weak muscles.
- Poor muscle tone.
- Enlarged liver.
- Failure to gain weight and grow at the expected rate (failure to thrive).
- Trouble breathing.
- Infections in the respiratory system.
- Motor skills delayed (such as rolling over and sitting).
- The legs and the trunk get steadily weaker.
Causes
- Mutations in the GAA gene cause Pompe disease. The GAA gene provides instructions for producing an enzyme called acid alpha-glucosidase (also known as acid maltase).
Risk factors
- Genetics (Family history).
Diagnosis
- Taking of a complete patient and family history
- Breathing tests to measure lung capacity (pulmonary function tests)
- Electromyography (a test that measures how well the muscles work) and MRIs
Medicines used
Frequently asked questions
What is Pompe Disease?
Pompe disease is a genetic disorder in which complex sugar called glycogen builds up in the body’s cells. The disease results from the deficiency of an enzyme called acid alfa glucosidase (GAA), which breaks downs complex sugars in the body. This buildup occurs in organs and tissues, especially in muscles, causing them to break down.
What are the symptoms of Pompe Disease?
Weak muscles., Poor muscle tone., Enlarged liver., Failure to gain weight and grow at the expected rate (failure to thrive)., Trouble breathing., Infections in the respiratory system., Motor skills delayed (such as rolling over and sitting)., The legs and the trunk get steadily weaker.
What causes Pompe Disease?
Mutations in the GAA gene cause Pompe disease. The GAA gene provides instructions for producing an enzyme called acid alpha-glucosidase (also known as acid maltase).
Which medicines are used for Pompe Disease?
alglucosidase alfa
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