KEGG   NETWORK: N00715
Entry
N00715                      Network                                

Name
GYS1 deficiency in glycogen biosynthesis
Definition
Glc-1P -- UGP2 >> GYS1*
  Expanded
C00103 -- 7360 >> 2997v1
Class
nt06017 Glycogen metabolism
Type
Variant
Disease
H00069  Glycogen storage disease
H01949  Glycogen storage disease type 0b
Gene
7360  UGP2; UDP-glucose pyrophosphorylase 2
2997  GYS1; glycogen synthase 1
Variant
2997v1 (GYS1*)  GYS1 deficiency
Metabolite
C00103  D-Glucose 1-phosphate
Reference
  Authors
Kollberg G, Tulinius M, Gilljam T, Ostman-Smith I, Forsander G, Jotorp P, Oldfors A, Holme E
  Title
Cardiomyopathy and exercise intolerance in muscle glycogen storage disease 0.
  Journal
N Engl J Med 357:1507-14 (2007)
DOI:10.1056/NEJMoa066691
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