Find Support With:
Abnormal Newborn Screening Results and Additional Testing
About Pompe
Pompe, a lysosomal storage disorder, is an inherited condition caused by deficiency of acid alpha-glucosidase (GAA) resulting in accumulation of glycogen, primarily in cardiac and skeletal muscle. There is wide variability in severity and in age of onset. There are two major forms of Pompe which differ in regards to disease severity and age of onset. Infantile-onset Pompe is the most severe form and requires immediate treatment. Late-onset Pompe is less severe and can present at any age, but may not require treatment right away. The symptoms and long term outcome of each form vary widely. For the best possible outcome, it is important to detect Pompe early and begin proper treatment immediately.
Types of Pompe
- Infantile onset Pompe disease (IOPD)
- Late onsent Pompe disease (LOPD)
Frequency
Pompe affects approximately 1 in 40,000 individuals in the United States.
Condition Type
Pompe is a Lysosomal Storage Disorder.
Also Known As
Acid maltase deficiency disease, Alpha-1, 4-glucosidase deficiency, AMD, Deficiency of alhpa-glucosidase, GAA deficiency, Glycogen storage disease type II, Glycogenosis type II, GSD II