Introduction:

Pompe's disease or glucogenosis type II belongs to the group of metabolic myopathies and is caused by a partial or total deficiency of the acid alpha glucosidase enzyme. The lack/deficiency of this enzyme generates glycogen storage inside the lysosomes in various tissues including skeletal muscle, myocardium and smooth muscle cells. It is a multisystemic disease that can have an early onset or a late onset.

Contents:

In this article, the historical aspects, the pathophysiology and the clinical manifestations of the disease, will be described.

Conclusions:

It is necessary to recognize Pompe disease because this pathology is treatable.

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