What is acid maltase deficiency disease?
Acid maltase deficiency (type II glycogenosis) is an autosomal recessive disorder caused by deficiency of the lysosomal enzyme alpha-glucosidase (acid maltase), a hydrolase that degrades glycogen to glucose. It can be subdivided into three different forms by age of onset.
The infantile form (Pompe disease) presents with cardiomegaly, macroglossia, hepatomegaly, and hypotonia.
The juvenile form presents with slowly progressive weakness.
Some cases might have calf or tongue hypertrophy.
The adult patient usually becomes symptomatic in the third or fourth decade with insidious painless limb-girdle weakness.
The respiratory muscles are disproportionately affected.