Definition

Pompe disease is a genetically inherited disorder that results in the progressive deterioration of muscle function. The disorder was first described by the Dutch pathologist J.C. Pompe in 1932. Pompe disease is an autosomal recessive disorder, which means that both unaffected parents are carriers and there is a 25% risk of having an affected offspring. Pompe disease is caused by mutations in a gene that encodes an enzyme (a protein that speeds up chemical reactions) called acid alpha-glucosidase. This enzyme is required for breaking down stored sugars in the body.

Description

Pompe disease is also known as glycogen storage disease, type II. Glucose molecules make up sugar, and glucose is stored in the body as glycogen. In this form of the disease, glycogen accumulates in discreet structures in the cell called the lysosomes. Other types of Pompe disease involve the failure to break down glycogen,...