ABSTRACT

Glycogen storage disease type II (GSDII, Pompe's disease) is an autosomal recessive inherited deficiency of lysosomal alpha-glucosidase (GAA). Three different clinical forms as infantile, juvenile and adult form have been descibed. A thirty-year-old-female with adult form acid maltase deficiency is presented. Although the leucosyt acid maltase level was zero in our patient the symptoms were restricted to skeletal muscle. The neurological and histopathological findings of this case are discussed.