Number Enzyme deficiency Eponym

GSD type I glucose-6-phosphatase von Gierke's disease

GSD type II acid alpha-glucosidase Pompe's disease
GSD type III glycogen debranching enzyme Cori's diseaseor Forbes' disease
GSD type IV glycogen branching enzyme Andersen disease
GSD type V muscle glycogen phosphorylase McArdle disease
GSD type VI liver glycogen phosphorylase Hers' disease
GSD type VII muscle phosphofructokinase Tarui's disease
GSD type IX phosphorylase kinase,PHKA2 -
GSD type XI glucose transporter,GLUT2 Fanconi-Bickel syndrome
GSD type XII Aldolase A Red cell aldolase deficiency
GSD type XIII -enolase -
GSD type 0 glycogen synthase -
Incidence Hypo- Hepato- Hyperlip-
glycemia? megaly? idemia?
1 in 50,000- 100,000 births Yes Yes Yes
1 in 40,000 births No Yes No
1 in 100,000 births Yes Yes Yes
No Yes, also cirrhosis No
1 in 100,000[12] No No No
1 in 65,000- 85,000 births[13] Yes Yes Yes
No No No
Yes Yes Yes
Yes Yes No
? ? ?
? ? ?
Yes No No
Muscle symptoms
None
Muscle weakness
Myopathy
None
Exercise-induced cramps,Rhabdomyolysis
None
Exercise-induced muscle cramps and weakness
None
None
Exercise intolerance,cramps
Exercise intolerance,cramps
Occasionalmuscle cramping
Development/ prognosis
Growth failure
*Death by age ~2 years (infantile variant)
Failure to thrive, death at age ~5 years
growth retardation
Delayed motor development,Growth retardation
Increasing intensity ofmyalgiasover decades
Other symptoms
Lactic acidosis,hyperuricemia
heart failure
Renal failurebymyoglobinuria
Haemolytic anaemia
Serum CK: Episodic elevations; Reduced with rest