Acid maltase deficiency
Definition
Acid maltase deficiency, also called Pompe disease, is a non-sex linked recessive genetic disorder that is the most serious of the glycogen storage diseases affecting muscle tissue. It is one of several known congenital (present at birth) muscular diseases (myopathies), as distinct from a muscular dystrophy, which is a family of muscle disorders arising from faulty nutrition. The Dutch pathologist J. C. Pompe first described this genetic disorder in 1932.
Description
Acid maltase deficiency is also known as glycogen storage disease type II (GSD II) because it is characterized by a buildup of glycogen in the muscle cells. Glycogen is the chemical substance muscles use to store sugars and starches...
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