Glycogen Storage Disease - Types


There are eleven (11) distinct diseases that are commonly considered to be glycogen storage diseases (some previously thought to be distinct have been reclassified). (Although glycogen synthase deficiency does not result in storage of extra glycogen in the liver, it is often classified with the GSDs as type 0 because it is another defect of glycogen storage and can cause similar problems.)

  • GSD type VIII: In the past, considered a distinct condition. Now classified with VI. Has been described as X-linked recessive.
  • GSD type X: In the past, considered a distinct condition. Now classified with VI.

Number Enzyme deficiency Eponym Incidence Hypo-
Muscle symptoms Development/ prognosis Other symptoms
GSD type I glucose-6-phosphatase von Gierke's disease 1 in 50,000- 100,000 births Yes Yes Yes None Growth failure Lactic acidosis, hyperuricemia
GSD type II acid alpha-glucosidase Pompe's disease 1 in 40,000 births No Yes No Muscle weakness *Death by age ~2 years (infantile variant) heart failure
GSD type III glycogen debranching enzyme Cori's disease or Forbes' disease 1 in 100,000 births Yes Yes Yes Myopathy
GSD type IV glycogen branching enzyme Andersen disease No Yes,
No None Failure to thrive, death at age ~5 years
GSD type V muscle glycogen phosphorylase McArdle disease 1 in 100,000 No No No Exercise-induced cramps, Rhabdomyolysis Renal failure by myoglobinuria
GSD type VI liver glycogen phosphorylase Hers' disease 1 in 65,000- 85,000 births Yes Yes No None
GSD type VII muscle phosphofructokinase Tarui's disease No No No Exercise-induced muscle cramps and weakness growth retardation Haemolytic anaemia
GSD type IX phosphorylase kinase, PHKA2 - Yes No Yes None Delayed motor development, Growth retardation
GSD type XI glucose transporter, GLUT2 Fanconi-Bickel syndrome Yes Yes No None
GSD type XII Aldolase A Red cell aldolase deficiency ? ? ? Exercise intolerance, cramps
GSD type XIII β-enolase - ? ? ? Exercise intolerance, cramps Increasing intensity of myalgias over decades Serum CK: Episodic elevations; Reduced with rest
GSD type 0 glycogen synthase - Yes No No Occasional muscle cramping

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