KEGG DISEASE: Glycogen storage disease type IV

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 disorder

Brite

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-based classification of diseases [BR:br08402]
Carbohydrate metabolism
  nt06017  Glycogen metabolism
   H01942  Glycogen storage disease type IV

Pathway

Starch and sucrose metabolism

Network

nt06017 Glycogen metabolism

Gene

GBE1 [HSA:2632] [KO:K00700]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

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

LinkDB

» Japanese version

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