Pompe Disease

Pompe disease is a rare, autosomal, genetic disorder that occurs in about 1:40,000 births and is caused by a deficiency in the enzyme acid alpha-glucosidase or GAA. This enzyme is used to break down glycogen - a stored form of sugar used for energy. The failure to break down stored sugars causes a build-up of glycogen in cells affecting various body tissues, particularly the heart, skeletal muscles, liver, and nervous system. Normal body development slowly declines as the disease progresses.

The onset of diagnoses can be infantile, juvenile, or adult and prognosis can vary according to the onset and severity of symptoms. Pompe disease is particularly lethal in infants and young children.

Genzyme Canada is committed to improve the lives of those who suffer with Pompe by offering support through resources, education, and research.

For more information on our involvement with Pompe Disease and other related Lysosomal Storage Diseases please contact Genzyme Canada at (905) 625-0011 or toll-free at 1-877-220-8918.

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