Mai K ElMallah, Silvia Pagliardini, Sara M Turner, Anthony J Cerreta, Darin J Falk, Barry J Byrne, John J Greer, David D Fuller
Pompe disease results from a mutation in the acid α-glucosidase gene leading to lysosomal glycogen accumulation. Respiratory insufficiency is common, and the current U.S. Food and Drug Administration-approved treatment, enzyme replacement, has limited effectiveness. Ampakines are drugs that enhance α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor responses and can increase respiratory motor drive. Recent work indicates that respiratory motor drive can be blunted in Pompe disease, and thus pharmacologic stimulation of breathing may be beneficial...
September 2015: American Journal of Respiratory Cell and Molecular Biology