Pompe Disease : General Disease Information

	Pharmacological Chaperones To learn more about pharmacological chaperones for lysosomal storage disorders, click here (pdf - 3.4MB).

Pompe disease is a lysosomal storage disorder caused by diminished or absent levels of an enzyme called α-glucosidase (Gaa). In most Pompe patients, missense mutations (genetic mutations that alter the structure of the protein that is produced) alter the structure of Gaa, which results in the accumulation of the protein in the cell. As a result, little or no Gaa is able to reach the lysosome – the area of the cell where the enzyme does its work. This enzyme is needed to break down glycogen, the form of sugar stored in living cells for use as energy.

What’s Missing in Pompe disease? Historically, Pompe disease has been described as a disorder caused by a missing enzyme. While some individuals do not make any enzyme, many individuals with Pompe disease do make enzyme. For more information on “What’s Missing” click here (pdf - 6.5MB).

Without sufficient Gaa, glycogen accumulates in the lysosomes, causing progressive muscle weakness throughout the body and affecting various body tissues, particularly the heart, skeletal muscles (including those involved with breathing), liver, and nervous system. Pompe disease can occur in infants, toddlers, or adults, and the prognosis varies according to the onset and severity of symptoms. Pompe disease affects an estimated 5,000-10,000 patients worldwide.