Georgeta Diaconu, Ioana Grigore and M. Burlea

ABSTRACT

Pompe disease is a rare neuromuscular disorder, with autosomial recessive transmition due to deficiency of lysosomal enzymatic acid alpha glucosidase (GAA) with accumulation of glycogen in tissues. The infantileonset form is the most severe with hypotonia and cardiomyopathy with death in the first years of life. The diagnosis may be confirmed by analysis of GAA enzyme activity at fibroblasts level by muscle or skin biopsy. This method is realized by invasive procedures and results are obtained after few weeks thus delaying diagnosis. In the last few years assays on blood cells and dried blood spots have been developed, method that are not invasive and can help at early diagnostic of Pompe disease. Treatment is represented by enzyme replacement therapy with alglucosidase alfa. This treatment changes the natural course of the disease. In patients with infantile onset enzyme replacement therapy prolongs survival and in those with delay onset improve walking distance and stabilize pulmonary function.

Key words: Pompe disease, child, enzyme therapy

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