Back to Clinical Cases main page

 

 

Nine different defects in glycogen metabolism have been identified.

These are all related to a deficiency in enzyme activity at one point or another in the metabolism of glycogen.


Name Type Enzyme Deficiency Tissues Chiefly Affected Clinical Consequences
Von Gierke's Disease
I
 Glucose 6-phosphatase Liver, kidney Severly enlarged liver, severe hypoglycemia, lactic acidosis, ketosis, hyperuricemia, hyperlipemia
Pompe's Disease
II
 1,4-D-Glucosidase (lysosomal) Liver, heart, muscle Cardiac failure in infancy
Cori's Disease
III
 Amylo-1,6-glucosidase ("Debranching" enzyme) Liver, muscle Similar to Type I, but milder
Andersen's Disease
IV
 "Branching" enzyme Liver Liver cirrhosis, death usually before 24 months
McArdle's Disease
V
 Phosphorylase Muscle Muscle cramps, easily fatigued
Hers' Disease
VI
 Phosphorylase Liver Similar to Type I, but milder
Tarui's Disease
VII
 Phosphofructokinase Muscle Similar to Type V
 
VIII
 Phosphorylase kinase Liver Enlarged liver, hypoglycemia
 
IX
 Glycogen synthase Liver