Glycogen storage disease type II
Glycogen storage disease type II, also called Pompe disease, formerly known as GSD-IIa and LGMD2V. It 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. GSD-II and Danon disease are the only glycogen storage diseases with a defect in lysosomal metabolism, and Pompe disease was the first glycogen storage disease to be identified, in 1932 by the Dutch pathologist J. C. Pompe.
| Pompe disease (Glycogen storage disease type II) | |
|---|---|
| Other names | Pompe disease; acid maltase deficiency; GSD-IIa; LGMD2V |
| Muscle biopsy showing large vacuoles in a case of Pompe disease (HE stain, frozen section) | |
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| Specialty | Endocrinology |
The inability to breakdown glycogen within the lysosomes of cells leads to progressive muscle weakness throughout the body and affects various body tissues, particularly in the heart, skeletal muscles, liver and the nervous system.