KEGG   NETWORK: N00716
Entry
N00716                      Network                                

Name
GYS2 deficiency in glycogen biosynthesis
Definition
Glc-1P -- UGP2 >> GYS2*
  Expanded
C00103 -- 7360 >> 2998v1
Class
nt06017 Glycogen metabolism
Type
Variant
Disease
H00069  Glycogen storage disease
H01950  Glycogen storage disease type 0a
Gene
7360  UGP2; UDP-glucose pyrophosphorylase 2
2998  GYS2; glycogen synthase 2
Variant
2998v1 (GYS2*)  GYS2 deficiency
Metabolite
C00103  D-Glucose 1-phosphate
Reference
PMID:9691087
  Authors
Orho M, Bosshard NU, Buist NR, Gitzelmann R, Aynsley-Green A, Blumel P, Gannon MC, Nuttall FQ, Groop LC
  Title
Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0.
  Journal
J Clin Invest 102:507-15 (1998)
DOI:10.1172/JCI2890
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