Pompe disease is a lysosomal glycogen storage disease that affects skeletal and respiratory musculature to varying degrees of severity and can occur at any age. It is innate and is inherited as an autosomal recessive trait.
The cause is a deficiency of the ubiquitous enzyme α-1,4-glucosidase. This enzyme hydrolyzes glycogen to glucose, its defect leads to the accumulation of glycogen in the lysosomes. The infantile Pompe disease begins in early infancy with a pronounced hypotonia and usually ends fatally in the first year of life.
Death occurs as a result of heart failure as part of hypertrophic cardiomyopathy. The course in adolescents (juvenile Pompe disease) and adults (adult Pompe disease) is inconsistent and unpredictable. The observed symptoms include diaphragmatic weakness and muscle weakness in the trunk area.
In mild to severe disease, muscle weakness leads to the loss of autonomous locomotion and the need for artificial respiration. On average, the first complaints of the adult form around the age of 28 occur and express difficulties in sports and running.
Wheelchair accessibility and the need for respiratory support are usually the consequence. An early onset of disease indicates a worse course. Death usually occurs due to respiratory failure or respiratory infections, e.g. through a pneumonia, a. Death by rupture of a cerebral aneurysm is also described; Cause could be a vessel wall weakness caused by glycogen deposits.