Glycogen Storage Disease IV

Alternative Names

  • GSD IV
  • GSD4
  • Glycogen Branching Enzyme Deficiency
  • GBE1 Deficiency
  • Andersen Disease
  • Brancher Deficiency
  • Glycogenosis IV
  • Amylopectinosis
  • Cirrhosis, Familial, with Deposition of Abnormal Glycogen
  • GSD IV, Classic Hepatic
  • GSD IV, Nonprogressive Hepatic
  • GSD IV, Neuromuscular Form, Fatal Perinatal
  • GSD IV, Neuromuscular Form, Congenital
  • GSD IV, Neuromuscular Form, Childhood
  • GSD IV, Neuromuscular Form, Adult, with Isolated Myopathy
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WHO-ICD-10 version:2010

Endocrine, nutritional and metabolic diseases

Metabolic disorders

OMIM Number

232500

Mode of Inheritance

Autosomal recessive

Gene Map Locus

3p12.2

Description

Glycogen Storage Disease IV (GSD IV), also known as Andersen Disease, is a type of glycogen storage disease. Unlike other GSDs, GSD IV is not characterized by excessive amount of normal glycogen in the body tissues. Instead, this condition is typified by accumulation of abnormal glycogen with very long outer branches, which resemble amylopectin. GSD IV is characterized by progressive hepatic scarring or cirrhosis, and hepatic failure. The disorder is severe and starts off usually in infancy. Initial features of the condition may be a failure to thrive, as well as hepatosplenomegaly. There is also a rarer neuromuscular form of the disease, which shows varying degrees of severity.

GSD IV is caused by mutations in the gene encoding the glycogen branching enzyme, GBE1. Mutations in this gene result in the production of abnormal glycogen with fewer branch points and longer alpha 1-4 linked polymers. This abnormal glycogen is recognized as foreign by the body's immune system, which attacks the hepatic and muscle tissues in which it is stored. This autoimmune reaction is what leads to the characteristic scarring seen in these tissues, and the features of the disease are a result of this scarring process.

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
232500.1LebanonFemaleYesYes Hypotonia; Spasticity; Death in infanc...NM_000158.4:c.986A>GHomozygousAutosomal, RecessiveNair et al. 2018 Affected siblings

Other Reports

Egypt

Kotb et al. (2004) conducted a cross- sectional study on 22 children suffering from liver GSD (with no current neurological symptoms) and 20 age- and sex- matched clinically free children who underwent creatine phospho-kinase (CPK), EMG, and NCV studies. Abnormal EMG and/or NCV studies were found in 11 children. Six (27.27 per cent) were found to have axonopathy, three (13.63 per cent) demyelinating polyneuropathy, and two (9.1 per cent) had mixed axonal and demyelinating neuropathy. Two children with axonopathy had GSD type VI, another had GSD type IV, and three had GSD of undiagnosed type. Three of those having a demyelinating polyneuropathy had GSD type III, another had GSD type IV, and the last had GSD of undiagnosed type. None were found to have a cardiomyopathy or a myopathy on EMG.

Oman

Joshi et al. (2002) carried out a retrospective analysis of all patients born with inborn errors of metabolism in Oman between June 1998 and December 2000. Among 82 patients, two were diagnosed with GSD type IV [CTGA Database Editor's note: Computed annual incidence rate is 1.6/100,000].

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