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: 7/4/2018 9:07:58 AM
From the Newsdesk
Nicklaus Children's Hospital will be one of a handful in the country to offer a fast turn-around on genome sequencing that can be a key to saving infants with rare and hard-to-diagnose genetic disorders. As seen on The Miami Herald.
Enzymes are particularly important in the processing of medicines and drugs. They determine how our bodies are going to handle the medicines we take, and if those medicines are going to help us feel better or not. This research study includes testing the status of the CYP2D6 gene in children.