Pompe Disease

Also known as: Pompe’s disease, acid maltase deficiency, AMD.

What is Pompe disease?

Glycogen is a complex carbohydrate that is present in many foods. In the body, the enzyme alpha-glucosidase breaks glycogen down into glucose so the body can use it. When the body doesn’t have enough (or has no) of this enzyme, it can’t break down glycogen. This condition is known as Pompe disease.

What causes Pompe disease?

Pompe disease is caused by a genetic mutation. The disease is an inherited disorder that is passed along from parents to their children.

What are the symptoms of Pompe disease?

Symptoms of Pompe disease can vary depending on its severity, and also depending on which stage of life it affects a patient. They can include muscle weakness, loss of muscle tone, breathing problems, developmental delays, heart problems and other issues.

What are Pompe disease care options?

A form of medication known as enzyme replacement therapy is recommended for patients with Pompe disease. Other treatments are often recommended for the specific symptoms that arise along with the disease.

Reviewed by: Paul A Cardenas, MD

This page was last updated on: January 13, 2020 03:30 PM