What is Pompe disease?|
Pompe disease is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulation of glycogen in certain tissues, especially muscles, impairs their ability to function normally.
One type of Pompe disease, known as infantile onset, begins within a few months of birth. Infants with this disorder typically exhibit symptoms such as muscle weakness (myopathy), poor muscle tone (hypotonia), an enlarged liver and heart, and heart failure. Affected infants may also have poor feeding, failure to gain weight and grow at the
How common is Pompe disease?
Pompe disease affects about 1 in 40,000 people.