Pompe disease is a metabolic disorder that prevents the body from properly breaking down glycogen, a substance that helps provide the body with energy.
Symptoms include muscle weakness, diminished muscle tone, enlargement as well as delayed motor skills. Most symptoms of Pompe disease develop within the first few months of life.
This condition is caused by pathogenic (disease-causing) variants in the GAA gene and exhibits autosomal recessive inheritance. This means that both parents must be carriers to have a 25% chance to have a child with the condition. The risk of being a carrier is based on a person’s ancestry or ethnic background. For example, individuals of Ashkenazi Jewish descent have a 1 in 58 chance to be a carrier. Carriers of Pompe disease typically do not experience any symptoms.
Other names for this condition are acid maltase deficiency disease and glycogen storage disease type II.
Resources:
National Organization for Rare Disorders (NORD)
National Institute of Neurological Disorders and Stroke
International Pompe Association
Revised July 2022
