Glycogen Storage Diseases Flashcards
Type 0
Deficiency
Organs affected
Blood metabolites
Other effects
Type 0
Glycogen synthase (liver)
No hepatomegaly
Ketotic hypoglycemia after overnight fast, post prandial lactic acidosis
No glycogen in the liver
Type 1A:
Deficiency (other form)
Organs affected
Blood metabolites
Other effects
Type 1A: Von Gierke disease
G6Pase (translocate for 1B)
Hepatomegaly (fatty liver), renomegaly
Severe fasting hypoglycemia (accumulation of G6P), can be converted back to glyocogen
Increased lipids, lactic and uric acid
Type 2:
Deficiency
Organs affected
Blood metabolites
Other effects
Type 2: Pompe disease
acid alpha-glucosidase
Cardiomegaly
Normal blood glucose –> cytoplasmic is normal
Glycogen accumulation in lysosomes
Type 3:
Deficiency
Organs affected
Blood metabolites
Other effects
Type 3: Cori disease
debranching enzyme (muscle and liver)
Hepatomegaly, skeletal and cardiomyopathy
Ketotic hypoglycemia after overnight fast, increased lipids, elevated CK
Glycogen accumulationin liver and muscle
Type IV:
Deficiency
Organs affected
Blood metabolites
Other effects
Type IV: Andersen disease
Branching enzyme
Hepatomegaly, cirrhosis, skeletal and cardiomyopathy
Normal blood glucose
Glycogen with elongated fibrillar structure, less soluble, precipitate causes cell damage
Type V:
Deficiency
Organs affected
Blood metabolites
Other effects
Type V: McArdle disease
Glycogen phosphorylase (skeletal muscle)
Cramping of skeletal muscle after exercise
Normal blood glucose, increased myoglobin (Shows in during), increased CK
No increase in lactate after exercise
Type VI
Deficiency
Organs affected
Blood metabolites
Other effects
Type VI: Hers disease
Glycogen phosphorylase (liver)
Hepatomegaly
Ketotic hypoglycemia after overnight fast, mild increase in lipid
Glycogen accumulation in liver
Type IX
Deficiency
Manifestations
Type IX
Phosphorylase kinase that activates glycogen phosphate
Similar manifestation as V and VI
