KEGG   DISEASE: Hepatic glycogen storage disease
Entry
H01760                      Disease                                

Name
Hepatic glycogen storage disease
  Subgroup
von Gierke disease (GSD type I) [DS:H01939]
Cori disease, Forbe disease (GSD type III) [DS:H01941]
Andersen disease (GSD type IV) [DS:H01942]
Hers disease (GSD type VI) [DS:H01944]
Phosphorylase kinase deficiency (GSD type IX) [DS:H01948]
GSD type 0a [DS:H01950]
Description
Glycogen storage diseases (GSD) are inherited metabolic disorders of glycogen metabolism. They are divided into types 0 to XV, according to enzyme or transporter deficiency and organ distribution. The hepatic GSDs lead to hepatomegaly and hypoglycemia due to the lack of distribution of glucose to the organism. 80% of hepatic GSD is formed by types I, III, and IX. GSD I involves the liver, kidney and intestine, and the clinical manifestations are hepatomegaly, failure to thrive, hypoglycemia, hyperlactatemia, hyperuricemia and hyperlipidemia. GSD IIIa patients display symptoms and signs due to the enzyme deficiency in liver, skeletal muscle and heart, whereas the remaining patients with GSD IIIb have only liver-related phenotypes. GSD IV usually presents in the first year of life, with hepatomegaly and growth retardation. GSD VI and IX are caused by a deficiency of the liver phosphorylase and phosphorylase kinase system, and with usually moderate symptoms which manifest mainly in childhood.
Category
Inherited metabolic disease; Liver disease
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of carbohydrate metabolism
   H01760  Hepatic glycogen storage disease
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
     H01760  Hepatic glycogen storage disease
Pathway
hsa00010  Glycolysis / Gluconeogenesis
hsa00500  Starch and sucrose metabolism
hsa04910  Insulin signaling pathway
Gene
(GSB Ia) G6PC [HSA:2538] [KO:K01084]
(GSB Ib) SLC37A4 [HSA:2542] [KO:K08171]
(GSB IIIa/b) AGL [HSA:178] [KO:K01196]
(GSB IV) GBE1 [HSA:2632] [KO:K00700]
(GSB VI) PYGL [HSA:5836] [KO:K00688]
(GSB IX) PHKA2 [HSA:5256] [KO:K07190]
(GSB IXb) PHKB [HSA:5257] [KO:K07190]
(GSB IXc) PHKG2 [HSA:5261] [KO:K00871]
(GSB 0a) GYS2 [HSA:2998] [KO:K00693]
Comment
See also H00069 Glycogen storage diseases (GSD).
Other DBs
ICD-11: 5C51.3
ICD-10: E74.0
MeSH: D006008
OMIM: 232200 232220 232240 232400 232500 232700 306000 261750 613027 240600
Reference
  Authors
Ozen H
  Title
Glycogen storage diseases: new perspectives.
  Journal
World J Gastroenterol 13:2541-53 (2007)
DOI:10.3748/wjg.v13.i18.2541
Reference
  Authors
Davit-Spraul A, Piraud M, Dobbelaere D, Valayannopoulos V, Labrune P, Habes D, Bernard O, Jacquemin E, Baussan C
  Title
Liver glycogen storage diseases due to phosphorylase system deficiencies: diagnosis thanks to non invasive blood enzymatic and molecular studies.
  Journal
Mol Genet Metab 104:137-43 (2011)
DOI:10.1016/j.ymgme.2011.05.010
Reference
  Authors
Derks TG, van Rijn M
  Title
Lipids in hepatic glycogen storage diseases: pathophysiology, monitoring of dietary management and future directions.
  Journal
J Inherit Metab Dis 38:537-43 (2015)
DOI:10.1007/s10545-015-9811-2
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