Pompe's disease is due to deficiency of:
Pompe's disease is: Type II glycogen storage disease It is the only GSD which is a Lysosomal Storage Disease. Due to deficiency of acid maltase enzyme (also known as Acid a (1 - 4)Glucosidase). This enzyme is present in lysosomes, catalyzes the minor pathway of glycogen breakdown. Patient has: hyperophic cardiomyopathy progressive skeletal myopathy Death occurs within 2 years due to cardiac failure The muscle biopsy show vacuoles. The treatment for Pompe disease is recombinant enzyme alglucosidase alfa (Myozyme).
Acid maltase
Muscle phosphorylase
Branching enzyme
Debranching enzyme
Glycogen