Pompe disease, also known as glycogen storage disease type II, is a rare, inherited metabolic disorder that affects the body's ability to break down and store a type of sugar called glycogen. This can lead to a buildup of glycogen in cells and tissues, especially in the heart, skeletal muscles, and liver.
Pompe disease is caused by mutations in the GAA gene, which provides instructions for making an enzyme called acid alpha-glucosidase. This enzyme is involved in the breakdown of glycogen. In people with Pompe disease, the body cannot produce enough functional acid alpha-glucosidase, or the enzyme that is produced is not working properly.
The severity of Pompe disease can vary widely, even among people with the same genetic mutations. There are three main forms of Pompe disease: infantile-onset, late-onset, and intermediate. Infantile-onset Pompe disease is the most severe form, and it can cause death within the first year of life. Late-onset and intermediate forms of the disease are less severe, but they can still cause serious problems, such as muscle weakness, breathing difficulties, and cardiomyopathy.
The diagnosis of Pompe disease is usually made through a combination of genetic testing, medical history, and physical exam, as well as through laboratory tests that measure the levels of certain substances in the blood and urine. Management of Pompe disease may include enzyme replacement therapy to provide the missing acid alpha-glucosidase, as well as physical therapy, rehabilitation, and respiratory support. Early diagnosis and management are important to prevent or minimize the effects of the condition and to reduce the risk of long-term complications, such as heart disease, stroke, and damage to the eyes, nerves, and kidneys.
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