A juvenile variant of glycogenosis IV (Andersen disease)

Eur J Pediatr. 1986 Aug;145(3):179-81. doi: 10.1007/BF00446059.

Abstract

An unusual patient with Andersen disease (glycogenosis type IV) is presented, with only relatively mild clinical symptoms at the age of 8 years. The patient has a profound deficiency of glycogen-branching enzyme.

Publication types

  • Case Reports

MeSH terms

  • 1,4-alpha-Glucan Branching Enzyme / deficiency
  • Child
  • Female
  • Glycogen / metabolism
  • Glycogen Storage Disease / metabolism*
  • Glycogen Storage Disease Type IV / metabolism*
  • Glycogen Storage Disease Type IV / pathology
  • Humans
  • Liver / enzymology
  • Liver / pathology

Substances

  • Glycogen
  • 1,4-alpha-Glucan Branching Enzyme