Pompe syndrome

Pompe, who first described an infant with the disease in 1932. Pompe disease happens when your body can t make a. It is caused by an accumulation of glycogen in the lysosome due to deficiency of the lysosomal acid alpha-glucosidase enzyme. The accumulation of glycogen in certain organs and tissues, especially muscles, impairs their ability to function normally. Pompe Disease Muscular Dystrophy Canada Pompe disease can occur between infancy and adulthoo and affects both men and women equally. If you or your child has Pompe disease, it s important to know that each case is different, and that doctors have treatments to help manage it.

Pompe disease is caused by mutations in a gene that makes an enzyme called.

The name Pompe disease comes from the Dutch pathologist J.C. Pompe disease is also known as Acid Maltase Deficiency or Glycogen Storage Disease type II. Pompe disease is a single disease continuum with variable rates of.

Reuser, Ph Associate Professor of Cell Biology Microscopical Anatomy, Erasmus University Medical Center, Rotterdam, the Netherlands, for assistance in the preparation of this report. Pompe disease affects an estimated 0to 10people worldwide. Approximately one-third of people with Pompe disease are infants (infantile-onset) while the other two thirds are children or adults (late-onset).

This condition is caused by the buildup of a complex sugar called glycogen in the body s cells. 1) The tank and 2) The bowl. A slide is one of the most popular playground toys ever invented.

Pompe Disease - Emory University

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