Problem
Pompe's disease
Other Names:
Glycogen storage disorder IICardiac form of generalized glycogenosis
Cardiomegalia glycogenica diffusa
Acid maltase deficiency
Alpha-1,4-glucosidase deficiency
Nature:
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.
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.
Broader Problems:
Glycogen storage diseases Organizations:
International Pompe Association Subject(s):
Fundamental Sciences → ChemicalsFundamental Sciences → Organic chemical compounds
Medicine → Cardiology
Medicine → Pathology
Societal Problems → Deprivation
Transportation, Telecommunications → Storage
Related UN Sustainable Development Goals:
Problem Type:
G: Very specific problems Date of last update
04.10.2020 – 22:48 CEST