Pompe's disease

Other Names:
Glycogen storage disorder II
Cardiac form of generalized glycogenosis
Cardiomegalia glycogenica diffusa
Acid maltase deficiency
Alpha-1,4-glucosidase deficiency

Glycogen storage disease type II, also called Pompe disease, is an autosomal recessive metabolic disorder which damages muscle and nerve cells throughout the body. It is caused by an accumulation of glycogen in the lysosome due to deficiency of the lysosomal acid alpha-glucosidase enzyme. It is the only glycogen storage disease with a defect in lysosomal metabolism, and the first glycogen storage disease to be identified, in 1932 by the Dutch pathologist J. C. Pompe.

The build-up of glycogen causes progressive muscle weakness (myopathy) throughout the body and affects various body tissues, particularly in the heart, skeletal muscles, liver and the nervous system.

Broader Problems:
Glycogen storage diseases
Problem Type:
G: Very specific problems
Related UN Sustainable Development Goals:
GOAL 1: No Poverty
Date of last update
07.06.2018 – 16:05 CEST