
Pompe Disease
Pompe disease is a rare genetic disorder that causes glycogen buildup in the cells. Generally, your body stores glycogen as fuel. However, for it to be useful, enzymes in your body have to break it down into glucose (sugar). If you don’t have enough enzymes — called alpha-glucosidase — to break down glycogen, you end up with a glycogen buildup. High levels of it can become toxic if not used, and affect how your organs and muscles function. For a person to develop Pompe disease, both of their parents must carry the faulty gene. If only one parent has it, you’ll be a carrier, but never experience any symptoms. There are three types of Pompe disease:
1. Classic Infantile Pompe Disease
This type of Pompe disease is diagnosed in newborns. It’s typically first noticed due to heart conditions — such as an enlarged or weak heart.
2. Non-Classic Infantile Pompe Disease
This modality of the condition is typically diagnosed around one year of age. While it still affects the heart, the main issue becomes breathing difficulties.
3. Late-Onset Pompe Disease
Diagnosed anywhere between late childhood and early adulthood, it’s also known as juvenile or adult-onset Pompe disease.
Treatments perscribed by:
Referral Forms
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