What Are the Therapeutic Approaches for Acid Alpha Glucosidase Deficiency?
One of the primary therapeutic approaches for acid alpha glucosidase deficiency is enzyme replacement therapy (ERT). This involves the administration of recombinant human acid alpha glucosidase to patients, aiming to reduce glycogen accumulation and ameliorate symptoms. Gene therapy is also being explored as a potential treatment, where functional copies of the GAA gene are introduced into the patient's cells to restore normal enzyme activity.
