A Comprehensive Update on Pompe Disease: From Existing Therapies to Emerging Curative Strategies.

Abstract excerpt

Pompe disease (PD) is a rare, autosomal recessive neuromuscular disorder caused by mutations in the gene encoding acid alpha-glucosidase (GAA). The resulting deficiency in GAA, a lysosomal enzyme, leads to the pathological accumulation of glycogen, primarily in cardiac and skeletal muscles. PD presents as a clinical continuum spanning two major phenotypes: infantile-onset Pompe disease (IOPD), the most severe...

Topics

• Humans
• Glycogen Storage Disease Type II
• Enzyme Replacement Therapy
• alpha-Glucosidases
• Mutation