The condition is brought about by a deficiency in alpha-glucosidase, an enzyme necessary for the ... inhibition as a therapeutic strategy in Pompe disease. The results build on promising data ...

Pompe disease is characterized by a deficiency of acid α-glucosidase (GAA). The GAA enzyme degrades lysosomal glycogen, and insufficient GAA activity causes glycogen to accumulate in various tissues.

This enzyme deficiency leads to muscle problems and developmental delays that are often mistaken for other diseases, said Steven Axon, CEO of startup Glycomine. PMM2-CDG is genetic, but it’s not ...

It hinders GYS1, an enzyme responsible for glycogen synthesis. This inhibition reduces glycogen accumulation in muscles, a key factor in Pompe disease. Phase I clinical trial results indicated ...

(MENAFN- PR Newswire) Pompe disease results from a deficiency of an enzyme called acid-alpha-glucosidase (GAA), leading to massive lysosomal glycogen buildup in striated muscle, resulting in ...