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Introduction
Pompe’s disease is a multisystem and progressive disorder. The disorder was diagnosed first in a seven-month-old infant who was found to be died as a result of bulky glycogen accumulation in many tissues; more so in the cardiac and skeletal muscles. It was formulated in 1932 by a pathologist Joannes Pompe’s for the very first time then, and so derived the name after him. Later the disease was linked with a deficiency of the lysosomal enzyme, which is responsible for the breakdown of glycogen to glucose.
The result is intralysosomal accumulation of glycogen, primarily in muscle cells, that leads to a progressive loss of muscle function.
Epidemiology:
Pompe’s disease is caused by the underlying enzyme deficiency, leading to the glycogen accumulation and secondary muscular degeneration, which is often progressive. However, the disease encompasses lot of clinical phenotypes.
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