Dwight Koeberl, MD, PhD of Duke University School of Medicine provides an overview of Pompe disease.

Pompe disease is a rare lysosomal storage disorder in which mutation in the GAA gene results in a reduction the levels of the GAA enzyme. That leads to a buildup of glycogen in the body’s cells. The accumulation of glycogen, especially in muscles, can lead to a number of problems.

There are 3 types of Pompe disease, classic infantile-onset, non-classic infantile-onset, and late-onset Pompe disease. Muscle deterioration is a common symptom in all types with severity being more pronounced in the infantile forms of the disease.

Currently, enzyme replacement therapy is available to slow down the progression of the disease and numerous other therapies, including gene therapies, are in development for this rare disease.

 

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