Awareness and developments in the treatment of pompe disease : A review

Abstract

Pompe disease is a hereditary, uncommon (one in every 40,000 births) and frequently deadly ailment that affects the heart and skeletal muscles. Mutations in a gene that produces an enzyme called acid alpha-glucosidase cause it (GAA). This article is meant to raise awareness among Pompe disease patients. We also talk about new future treatments on the market for the treatment of pompe illness. Pompe disease is an inherited disorder caused by the build-up of a complex sugar called glycogen in the body’s cells. The accumulation of glycogen in certain organs and tissues, especially muscles, impairs their ability to function normally. Researchers have described three types of pompe disease, which differ in severity and the age at which they appear. These types are known as classic infantile-onset, non-classic infantile-onset and late-onset. The classic form of infantileonset pompe disease begins within a few months of birth. Infants with this disorder typically experience muscle weakness (myopathy), poor muscle tone (hypotonia), an enlarged liver (hepatomegaly) and heart defects. Affected infants may also fail to gain weight and grow at the expected rate (failure to thrive) and have breathing problems. If untreated, this form of pompe disease leads to death from heart failure in the first year of life. The non-classic form of infantile-onset pompe disease usually appears by age 1. It is characterized by delayed motor skills (such as rolling over and sitting) and progressive muscle weakness. The heart may be abnormally large (cardiomegaly), but affected individuals usually do not experience heart failure. The muscle weakness in this disorder leads to serious breathing problems and most children with non-classic infantile-onset pompe disease live only into early childhood.