Learning About Pompe
Pompe disease is a rare neuromuscular genetic disorder that affects approximately 5,000 to 10,000 people world wide. It occurs in babies, children, and adults who inherit a defective gene from each parent. The disease manifestations can vary greatly from one person to the next.
Over the last several years, a great deal has been learned about Pompe disease. This section of the Website can help answer your questions:
- What is Pompe disease?
- How is it diagnosed?
- How is Pompe disease managed?
- What can make it easier to live with Pompe disease?
Other names for Pompe disease include:
Acid alpha-glucosidase deficiency
Acid maltase deficiency (AMD)
Glycogen storage disorder (GSD) type II
Glycogenosis II
Lysosomal alpha-glucosidase deficiency
NOTE: In scientific articles, the enzyme acid alpha-glucosidase may be written as acid α-glucosidase or shortened to α-glu or AGLU. It is also commonly shortened to GAA. GAA actually stands for glucosidase acid alpha, which is the name given to the gene (not the enzyme).
