P4.52 Transcriptional response to GAA deficiency in mice and humans

Pompe disease is caused by deficiency of acid alpha-glucosidase (GAA), a lysosomal enzyme responsible for the degradation of glycogen. The resulting accumulation of lysosomal glycogen leads to vacuolation and weakness in muscle. The course of the disease is heterogeneous. Enzyme replacement therapy has been shown to reduce glycogen levels, improve morphology, and restore function and muscle strength; the response to therapy is variable but early treatment may lead to better clinical outcomes.