GAA
Associated conditions:
- Pompe disease
GAA makes acid alpha-glucosidase, the enzyme that breaks down stored glycogen inside the cell's recycling compartments. Genetic changes in both copies of this gene are associated with an autosomal recessive condition called Pompe disease, in which glycogen piles up and damages muscle and the heart. Knowing your genetic status enables early diagnosis, since enzyme replacement therapy works best when started before serious muscle loss.
Conditions linked to GAA
Pompe disease
Pompe disease is a glycogen storage disorder caused by a missing enzyme, so glycogen builds up and weakens muscles, including the heart and breathing muscles. Enzyme replacement therapy can help, so early diagnosis matters.
