Table 1.

Features of the Classical Glycogen Storage Diseases

Type/Eponym	Enzyme Deficiency	Presenting Clinical Features	Primary Tissue Involvement	Animal Model	Vector Administered
I/von Gierke	Glucose-6-phosphatase	Growth retardation, hepatomegaly, hypoglycemia, lactic acidemia, hyperuricemia, and hyperlipidemia	Liver, kidney	Maltese dog, mouse	AAV, Ad, LV, plasmid
II/Pompe	Acid alpha-glucosidase	Cardiomyopathy, myopathy, respiratory failure	Heart, skeletal muscle, nerves	Lapphund dog, mouse	AAV, Ad, LV
III/Cori, Forbes	Debrancher	hepatomegaly, hypoglycemia, hyperlipidemia, and growth retardation	Liver, heart, skeletal muscles	Curly coated retriever dog, mouse	None
IV/Anderson	Branching	Hepatosplenomegaly, failure to thrive	Liver, heart, nerves	Norwegian forest cat, mouse	None
V/McArdle	Muscle phosphorylase	Exercise intolerance, muscle cramps	Skeletal muscle	Charlois cattle, sheep, mouse	AAV, Ad
VII/Tarui	Phosphofructokinase	Exercise intolerance, muscle cramps, hemolytic anemia	Skeletal muscle, erythrocytes	English Springer spaniel dog, mouse	None