Energy Status in Skeletal Muscle in a Mouse Model of Pompe Disease.

Pompe disease (PD) is a rare autosomal recessive disorder caused by the defi ciency of the lysosomal enzyme acid alpha glucosidase and results in the accumulation of glycogen in multiple tissues, although the major clinical manifestations are seen in cardiac and skeletal muscle. Enzyme replacement therapy is at present the only approved treatment for PD, but shows limited effi cacy in some patients, and does not completely correct the disease phenotype. We have used a mouse model of PD in order to focus on a better understanding of the cellular pathophysiologic mechanisms of the disease. We have studied the effect of glycogen accumulation on the energy status of skeletal muscle fi bers.