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Glycogen storage disease

Glycogen storage disease
Classification and external resources
Specialty endocrinology
ICD-10 E74.0
ICD-9-CM 271.0
MeSH D006008

Glycogen storage disease (GSD, also glycogenosis and dextrinosis) is the result of defects in the processing of glycogen synthesis or breakdown within muscles, liver, and other cell types.

GSD has two classes of cause: genetic and acquired. Genetic GSD is caused by any inborn error of metabolism (genetically defective enzymes) involved in these processes. In livestock, acquired GSD is caused by intoxication with the alkaloid castanospermine.

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.)..

Overall, according to a study in British Columbia, approximately 2.3 children per 100 000 births (1 in 43,000) have some form of glycogen storage disease. In the United States, they are estimated to occur in 1 per 20,000-25,000 births. A Dutch study estimated it to be 1 in 40,000.

Number Enzyme deficiency Eponym Incidence Hypo-
Muscle symptoms Development/ prognosis Other symptoms
GSD type 0 glycogen synthase - Yes No No Occasional muscle cramping Growth failure in some cases
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-50,000 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 1 to 500,000 No Yes,
No None Failure to thrive, death at age ~5 years
GSD type V muscle glycogen phosphorylase McArdle disease 1 in 100,000-500,000 No No No Exercise-induced cramps, Rhabdomyolysis Renal failure by myoglobinuria, second wind phenomenon
GSD type VI liver glycogen phosphorylase Hers' disease 1 in 65,000- 85,000 births Yes Yes Yes None initially benign, growth retardation follows.
GSD type VII muscle phosphofructokinase Tarui's disease 1 in 1,000,000 No No No Exercise-induced muscle cramps and weakness growth retardation Haemolytic anaemia
GSD type IX Phosphorylase kinase Yes Yes 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 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.


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