Tuesday, May 12, 2009

What is Pompe?

Pompee is also know as acid maltase deficiency or glycogen storage disease type II (GSD-II). In laymans terms, it is a nuromuscular disease in which the muscles are lacking a certian ensyme in order to function properly.

Pompe disease has been categorized several different ways in the literature. A neuromuscular disorder—and within that umbrella, a metabolic disease of the muscle—it is one of more than 40 diseases which share a common element of muscle wasting. It was also the first disease to be classified as a lysosomal storage disease (LSD), a family of more than 40 diseases that interfere with the body's ability to degrade complex molecules within the lysosome. Thirdly, Pompe disease is the most severe form of the 12 glycogen storage diseases (GSD), in which an enzymatic deficiency disrupts the normal conversion of glycogen.

You can get more detailed scientific details by visiting the websites I have linked to the right.

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