Glycogen storage disease type 0 (liver GYS2)

Stable Identifier
R-HSA-3858516
Type
Pathway
Species
Homo sapiens
Synonyms
GSD 0
ReviewStatus
5/5
Locations in the PathwayBrowser
Expand all
General
SVG | 
PNG
Low
Medium
High
 | PPTX  | SBGN
Glycogen storage disease type 0 (liver GYS2)
Click the image above or here to open this pathway in the Pathway Browser
Glycogen synthase 2 (GYS2 "liver") normally catalyzes the addition of glucose residues to a growing glycogen molecule. In its absence, glycogen synthesis fails. Expression of GYS2 is confined to the liver and its deficiency is most prominently associated with fasting hypoglycemia (Gitzelmann et al. 1996; Orho et al. 1998).
Literature References
PubMed ID Title Journal Year
9691087 Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0

Orho, M, Bosshard, NU, Buist, NR, Gitzelmann, R, Aynsley-Green, A, Blumel, P, Gannon, MC, Nuttall, FQ, Groop, LC

J Clin Invest 1998
8831078 Liver glycogen synthase deficiency: a rarely diagnosed entity

Gitzelmann, R, Spycher, MA, Feil, G, Müller, J, Seilnacht, B, Stahl, M, Bosshard, NU

Eur. J. Pediatr. 1996
Participants
Events
Participates
as an event of
Disease
Name Identifier Synonyms
glycogen storage disease DOID:2747 glycogenosis
Cross References
Mondo
Authored
D'Eustachio, P  (2013-07-19)
Reviewed
Jassal, B  (2015-08-17)
Created
D'Eustachio, P  (2013-07-10)
Cite Us!