They affect the lysosome — a structure in your cells that breaks down substances ... Pompe disease. It affects the enzyme acid alpha-glucosidase (GAA). This enzyme breaks down the sugar glycogen ...

Different GAA gene variants may affect how much working GAA enzyme your body produces. People who have 1% or 2% of normal enzyme activity usually get Pompe disease as infants.

In use as therapy for Pompe disease, a recombinant human GAA produced in Chinese hamster ovary (CHO) cells is available. 10 Despite its efficacy, replacement therapy with this enzyme has some ...

Pompe disease is a rare genetic condition that affects only 1 person in 40,000 in the United States. ... a deficiency in the enzyme GAA causes this buildup in organs and tissues.

Pompe disease is a rare (estimated at 1 in every 40,000 births), inherited and often fatal disorder that disables the heart and muscles. It is caused by mutations in a gene that makes an enzyme ...

Mutations in a gene that makes GAA, called GAA gene, is thought to either reduce or completely prevent the production of this essential enzyme. Hence, in people with Pompe disease, glycogen builds ...

Pompe's disease is a lysosomal storage disorder caused by a genetic deficiency of GAA. The disease is associated with severe and progressive physical disability and premature death, and patients ...

CONCORD, Mass., Feb. 5, 2018 /PRNewswire/ -- Valerion Therapeutics, a clinical-stage biotechnology company that specializes in the development of ...

Some rare genetic disorders impair a critical molecule that has to be replaced, or serious disease or disability will occur. One of these disorders is Pompe disease, which is caused by a genetic ...

Currently, the only treatment for Pompe disease involves injecting large amounts of the missing enzyme, known as acid alpha-glucosidase (GAA), into the bloodstream of patients -- with the hope ...

Amicus Therapeutics FOLD announced clinical, regulatory and manufacturing advancements for AT-GAA, its investigational therapy for Pompe disease.The company is utilizing its biologics capabilities ...