Andersen disease (GSD type IV): clinical features

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Andersen disease (GSD type IV): clinical features. This is caused by mutations in the GBE1 gene on chromosome 3p. Fully referenced neurology checklist.

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

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The hepatic form

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The childhood neuromuscular form

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Adult form

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Other presentations

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Synonyms

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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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