KEGG   DISEASE: Glycogen storage disease type 0a
Entry
H01950                      Disease                                

Name
Glycogen storage disease type 0a;
Liver glycogen synthase deficiency
  Supergrp
Glycogen storage disease [DS:H00069]
Hepatic glycogen storage disease [DS:H01760]
Description
Glycogen storage disease type 0a (GSD-0a), also known as liver glycogen synthase deficiency, is an autosomal recessive disorder of glycogen metabolism. GSD-0b is caused by mutations in the GYS2 gene, which encodes liver glycogen synthase. In GSD-0a, the main clinical finding is intolerance to fasting accompanied by hypoglycemia.
Category
Inherited metabolic disease
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of carbohydrate metabolism
   H01950  Glycogen storage disease type 0a
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C51  Inborn errors of carbohydrate metabolism
     H01950  Glycogen storage disease type 0a
Pathway
hsa00500  Starch and sucrose metabolism
hsa04910  Insulin signaling pathway
Network
nt06017  Glycogen metabolism
  Element
N00716  GYS2 deficiency in glycogen biosynthesis
Gene
GYS2 [HSA:2998] [KO:K00693]
Other DBs
ICD-11: 5C51.3
ICD-10: E74.0
MeSH: C565485
OMIM: 240600
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
Reference
PMID:141912
  Authors
Aynsley-Green A, Williamson DH, Gitzelmann R
  Title
Hepatic glycogen synthetase deficiency. Definition of syndrome from metabolic and enzyme studies on a 9-year-old girl.
  Journal
Arch Dis Child 52:573-9 (1977)
DOI:10.1136/adc.52.7.573
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