Pompe’s disease is due to deficiency of enzyme
Glycogen storage diseases glycogenosis
Type I Von-Gierke’s disease →due to deficiency of glucose-6-phosphatase
Type II Pompe’s disease →
a. due to deficiency of: - Lysosomal α1-4 and 1 →6 glucosidase Acid maltase
b. Organ affected are → Liver, Heart, and muscles and stored glycogen of normal structure.
c. C/F → cardiomegaly, Hypotonia, no Hypoglycemia, ECG → findings →high voltage QRS complex and short PR interval. Death usually occurs from cardio-respiratory failure or aspiration pneumonia.
i. Type III Limit dextrinosis, Forbe’s or Cori’s disease →due to deficiency of Debranching Enzyme
ii. Type IV Amylopectinosis, Andersen’s disease →due to deficiency of Branching Enzyme
iii. Type V Mc Ardle’s disease →due to deficiency of muscle phosphorylase
iv. Type VI Hers’ disease →due to deficiency of Liver phosphorylase
v. Type VII Tarui’s disease →Deficiency of Phosphofructokinase in RBC and muscles.