Glycogen Storage Diseases

Glycogen is used as an almost universal energy store in animal tissues; its complex molecular structure requires the interaction of many biosynthetic and degradative enzymes, whose action is finely coordinated and subject to rigorous metabolic regulation. Numerous diseases, each with a particular clinical phenotype, result from inherited defects in the metabolism of glycogen; many of these lead to the storage of abnormal glycogen molecules.

Keywords: glycogen; storage; metabolism; muscle; liver; starvation; hypoglycaemia; glycogenolysis

 References
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 Further Reading
    book Chen Y-T (2001) "Glycogen storage diseases". In: Scriver CR, Beaudet A, Valle D and Sly WS (eds) The Metabolic and Molecular Bases of Inherited Metabolic Disease, vol. III: pp. 1521–1552. New York: McGraw-Hill.
    Chen Y-T, Cornblath M and Sidbury JB (1984) Cornstarch therapy in type 1 glycogen storage disease. New England Journal of Medicine 310: 171–175.
    book Cornblath M and Schwartz R (1991) Disorders of Carbohydrate Metabolism in Infancy, 3rd edn. Cambridge, MA: Blackwell Scientific.
    Marti GE, Rick ME, Sidbury JB and Gralnick (1986) DDAVP infusion in five patients with type Ia glycogen storage disease and associated correction of prolonged bleeding times. Blood 68: 180–184.
    book Salway JG (1999) Metabolism at a Glance, 2nd edn. Oxford: Blackwell Science.
    Shin YS (1990) Diagnosis of glycogen storage disease. Journal of Inherited Metabolic Disease 13: 419–434.
    Wolfsdorf JI, Rudlin CR and Crigler JF (1990) Physical growth and development of children with type 1 glycogen-storage disease: comparison of the effects of long-term use of dextrose and uncooked cornstarch. American Journal of Clinical Nutrition 52: 1051–1057.
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Cox, TM(Mar 2002) Glycogen Storage Diseases. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1038/npg.els.0002270]