Pompe's disease is due to deficiency of:: (A) Acid maltase, (B) Muscle phosphorylase, (C) Branching enzyme, (D) Debranching enzyme
Answer is A. 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).