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).
Glycogen
Acid maltase
Muscle phosphorylase
Branching enzyme
Debranching enzyme
Acid maltase