Pompe disease-glycogenosis type II: Acid maltase deficiency

Abstract

Pompe disease (OMIM #232300) is caused by acid α-glucosidase deficiency leading to lysosomal glycogen storage in numerous tissues but primarily affecting skeletal muscle function. Several findings related to Pompe disease have contributed to the understanding of lysosomal storage disorders in general. It concerns: the detection of storage 'vacuoles', the definition of a lysosomal enzyme deficiency, and the subsequent definition of a lyso somal storage disorder, the correlation between residual activity and clinical phenotype, the occurrence of posttranslational modification of lysosomal proteins and mannose 6-phosphorylation, as well as the concept of enzyme replacement therapy