KEGG   DISEASE: Glycogen storage disease type IV
Entry
H01942                      Disease                                

Name
Glycogen storage disease type IV;
Andersen disease
  Supergrp
Glycogen storage disease [DS:H00069]
Hepatic glycogen storage disease [DS:H01760]
Muscle glycogen storage disease [DS:H01762]
Description
Glycogen storage disease type IV (GSD-IV), also known as Andersen disease, is an autosomal recessive disorder of glycogen metabolism. GSD-IV is caused by mutations in the GBE1 gene, which encodes the glycogen branching enzyme. The typical presentation is liver disease of childhood, progressing to lethal cirrhosis.
Category
Inherited metabolic disease
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of carbohydrate metabolism
   H01942  Glycogen storage disease type IV
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
     H01942  Glycogen storage disease type IV
Pathway
hsa00500  Starch and sucrose metabolism
Network
nt06017  Glycogen metabolism
  Element
N00714  GBE1 deficiency in glycogen biosynthesis
Gene
GBE1 [HSA:2632] [KO:K00700]
Other DBs
ICD-11: 5C51.3
ICD-10: E74.0
MeSH: D006011
OMIM: 232500
Reference
  Authors
Alegria A, Martins E, Dias M, Cunha A, Cardoso ML, Maire I
  Title
Glycogen storage disease type IV presenting as hydrops fetalis.
  Journal
J Inherit Metab Dis 22:330-2 (1999)
DOI:10.1023/A:1005568507267
Reference
  Authors
Bruno C, van Diggelen OP, Cassandrini D, Gimpelev M, Giuffre B, Donati MA, Introvini P, Alegria A, Assereto S, Morandi L, Mora M, Tonoli E, Mascelli S, Traverso M, Pasquini E, Bado M, Vilarinho L, van Noort G, Mosca F, DiMauro S, Zara F, Minetti C
  Title
Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV).
  Journal
Neurology 63:1053-8 (2004)
DOI:10.1212/01.WNL.0000138429.11433.0D
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