<unk> , 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.
Glycogen storage disease type II
Limb–girdle muscular dystrophy
Glycogen storage disease type 0
Glycogen storage disease type IV
Glycogen storage disease type V
Glycogen storage disease type VI
Glycogen storage disease type IX
Essential fructosuria