Andersen disease (GSD type IV): clinical features

Evidence-based neurology checklist on andersen disease (gsd type iv): clinical features: Genetics and pathology This is caused by mutations in the GBE1 gene on chromosome 3p The transmission is autosomal recessive The mutation results in glycogen branching enzyme (GBE) deficiency This results in…

Genetics and pathology

  • This is caused by mutations in the GBE1 gene on chromosome 3p
  • The transmission is autosomal recessive
  • The mutation results in glycogen branching enzyme (GBE) deficiency
  • This results in tissue deposition of polyglucosan (amylopectin)
  • This is also seen in phosphofructokinase (PFK) deficiency and Lafora body disease

The perinatal form

The hepatic form

The childhood neuromuscular form

Adult form

Other presentations

Synonyms

References

  1. Bao Y, Kishnani P, Wu JY, Chen YT. Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene. J Clin Invest 1996; 97:941-948.
  2. Bruno C, van Diggelen OP, Cassandrini D, et al. Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV). Neurology 2004; 63:1053-1058.
  3. Gümüş E, Özen H. Glycogen storage diseases: an update. World J Gastroenterol 2023; 29:3932-3963.
  4. Bruno C, Cassandrini D, Assereto S, Akman HO, Minetti C, Di Mauro S. Neuromuscular forms of glycogen branching enzyme deficiency. Acta Myol 2007; 26:75-78.
  5. Moses SW, Parvari R. The variable presentations of glycogen storage disease type IV: a review of clinical, enzymatic and molecular studies. Curr Mol Med 2002; 2:177-188. 
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