KEGG   DISEASE: Glycogen storage disease type IHelp
Entry
H01939                      Disease                                

Name
Glycogen storage disease type I;
Von Gierke disease
  Supergrp
Glycogen storage disease [DS:H00069]
Hepatic glycogen storage disease [DS:H01760]
Description
Glycogen storage disease type I (GSD-I), also known as von Gierke disease, is an autosomal recessive disorder caused by a deficiency in microsomal glucose-6-phosphatase (G6Pase) activity. There are four distinct subgroups of this disorder, Ia, Ib, Ic, and Id. GSD-Ia is caused by mutations in the G6Pase gene. Clinical manifestations include short stature, hepatomegaly, hypoglycemia, hyperuricemia, and lactic acidemia. GSD-Ib, Ic, and Id result from deficient activity of the phosphate/ pyrophosphate transporter of G6Pase complex and is associated with neutropenia as well as hepatomegaly and hypoglycaemia.
Category
Inherited metabolic disease
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of carbohydrate metabolism
   H01939  Glycogen storage disease type I
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
     H01939  Glycogen storage disease type I
BRITE hierarchy
Pathway
hsa00010 Glycolysis / Gluconeogenesis   
hsa04973  Carbohydrate digestion and absorption
Network
nt06017  Glycogen metabolism
  Element
N00719  G6PC deficiency in glycogen degradation
N00817  Mutation-inactivated SLC37A4 to transport of glucose 6-phosphate
Gene
(GSD Ia) G6PC [HSA:2538] [KO:K01084]
(GSD Ib/Ic/Id) SLC37A4 [HSA:2542] [KO:K08171]
Other DBs
ICD-11: 5C51.3
ICD-10: E74.0
MeSH: D005953
OMIM: 232200 232220 232240
Reference
  Authors
Akanuma J, Nishigaki T, Fujii K, Matsubara Y, Inui K, Takahashi K, Kure S, Suzuki Y, Ohura T, Miyabayashi S, Ogawa E, Iinuma K, Okada S, Narisawa K
  Title
Glycogen storage disease type Ia: molecular diagnosis of 51 Japanese patients and characterization of splicing mutations by analysis of ectopically transcribed mRNA from lymphoblastoid cells.
  Journal
Reference
PMID:9463334
  Authors
Annabi B, Hiraiwa H, Mansfield BC, Lei KJ, Ubagai T, Polymeropoulos MH, Moses SW, Parvari R, Hershkovitz E, Mandel H, Fryman M, Chou JY
  Title
The gene for glycogen-storage disease type 1b maps to chromosome 11q23.
  Journal
Am J Hum Genet 62:400-5 (1998)
DOI:10.1086/301727
Reference
PMID:9428641
  Authors
Gerin I, Veiga-da-Cunha M, Achouri Y, Collet JF, Van Schaftingen E
  Title
Sequence of a putative glucose 6-phosphate translocase, mutated in glycogen storage disease type Ib.
  Journal
FEBS Lett 419:235-8 (1997)
DOI:10.1016/S0014-5793(97)01463-4
Reference
PMID:9598717
  Authors
Fenske CD, Jeffery S, Weber JL, Houlston RS, Leonard JV, Lee PJ
  Title
Localisation of the gene for glycogen storage disease type 1c by homozygosity mapping to 11q.
  Journal
J Med Genet 35:269-72 (1998)
DOI:10.1136/jmg.35.4.269
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