David Kronn, MD, Associate Professor of Pediatrics at New York Medical College, provides an overview of Pompe disease.

Pompe disease is a lysosomal disorder that leads reduced levels of acid alpha-glucosidase (GAA). The net result is a buildup of glycogen in the cells. The accumulation of glycogen, especially in muscles, can lead to numerous complications.

There are 3 types of Pompe disease, classic infantile-onset, non-classic infantile-onset, and late-onset Pompe disease.

The classic infantile-onset Pompe disease begins within a few months of birth. Infants with this disorder typically experience myopathy, hypotonia, hepatomegaly, and heart defects. 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 and progressive muscle weakness. 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, if untreated.

The late-onset type of Pompe disease may not become apparent until later in childhood, adolescence, or adulthood. Most individuals with late-onset Pompe disease experience progressive muscle weakness, especially in the legs and the trunk, including the muscles that control breathing.

Enzyme replacement therapy is available to delay the progression of the disease. Numerous treatments are also in development, including gene therapy.

To learn more about Pompe disease, visit checkrare.com/pompe.


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