Original articleS clinical features of Pompe disease

Glycogen storage disease type II- also called Pompe disease or acid maltase deficiency- is an autosomal recessive metabolic disorder, caused by an accumulation of glycogen in the lyso-some due to deficiency of the lysosomal acid alpha-glucosidase enzyme. Pompe disease is transmitted as an autosomal recessive trait and is caused by mutations in the gene encoding the acid α-glucosidase (GAA), located on chromosome 17q25.2-q25.3. The different disease phenotypes are related to the levels of re-sidual GAA activity in muscles. The clinical spectrum ranging from the classical form with early onset and severe phenotype to not-classical form with later onset and milder phenotype is described. Key words: Glycogen storage disease type II, Pompe disease, GAA activit