Glycogen storage disease type 0 (muscle GYS1)

Stable Identifier
R-HSA-3828062
Type
Pathway
Species
Homo sapiens
Synonyms
GSD 0 (muscle)
ReviewStatus
5/5
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Glycogen storage disease type 0 (muscle GYS1)
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Glycogen synthase 1 (GYS1 "muscle") is widely expressed in the body. It normally catalyzes the addition of glucose residues to a growing glycogen molecule. In its absence, glycogen synthesis fails. This deficiency is most prominently associated with exercise intolerance and cardiomyopathy (Kolberg et al. 2007; Cameron et al. 2009).
Literature References
PubMed ID Title Journal Year
19699667 Identification of a novel mutation in GYS1 (muscle-specific glycogen synthase) resulting in sudden cardiac death, that is diagnosable from skin fibroblasts

Utgikar, R, Robinson, BH, Cameron, JM, Chiasson, D, Halliday, W, Ackerley, CA, Raiman, J, Mackay, N, Levandovskiy, V

Mol. Genet. Metab. 2009
17928598 Cardiomyopathy and exercise intolerance in muscle glycogen storage disease 0

Tulinius, M, Ostman-Smith, I, Gilljam, T, Holme, E, Oldfors, A, Jotorp, P, Forsander, G, Kollberg, G

N Engl J Med 2007
Participants
Events
Participates
as an event of
Disease
Name Identifier Synonyms
glycogen storage disease DOID:2747 glycogenosis
Authored
D'Eustachio, P  (2013-07-19)
Reviewed
Jassal, B  (2015-08-17)
Created
D'Eustachio, P  (2013-07-09)
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