Pompe is an inherited condition that affects many different parts of the body. It is considered a lysosomal storage disorder because individuals with Pompe have lysosomes (the recycling center of each cell) that cannot break down certain types of complex sugars. This causes undigested sugar molecules and other harmful substances to build up in cells throughout the body, resulting in a variety of symptoms. There are three forms of Pompe that differ in disease severity and age of onset. 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.  Signs of classic infantile-onset Pompe begin before or shortly after birth and include muscle weakness (myopathy), poor muscle tone (hypotonia), failure to gain weight and grow at expected rate (failure to thrive), difficulty breathing, trouble feeding, respiratory infections, and hearing problems. Signs of non-classic infantile-onset Pompe usually occur by age 1 and include delayed motor skills, progressive muscle weakness (myopathy), and difficulty breathing. Late-onset Pompe may develop in childhood, adolescence, or even adulthood. It is also associated with progressive muscular weakness and difficulty breathing. However, the symptoms are usually milder and progress more slowly than the other forms of Pompe.

Condition Type:

Core Conditions


Pompe is estimated to affect 1 in every 40,000 babies in the United States.

More Information for Parents:
Also known as:
  • Acid maltase deficiency disease
  • Alpha-1, 4-glucosidase deficiency
  • AMD
  • Deficiency of alpha-glucosidase
  • GAA deficiency
  • Glycogenosis Type II
  • Glycogen storage disease type II
  • GSD II

Core Conditions