Glycogen storage disease type II in Spanish patients: high frequency of c.1076-1G>C mutation

Mol Genet Metab. 2007 Sep-Oct;92(1-2):183-7. doi: 10.1016/j.ymgme.2007.05.011. Epub 2007 Jul 5.


Glycogen storage disease type II is an autosomal recessive disorder of glycogen metabolism due to deficiency of lysosomal acid alpha-glucosidase. We present the molecular and enzymatic analyses of 22 Spanish GSD II patients. Molecular analyses revealed nine novel mutations. The most common defects were mutations c.-32-13T>G (25%) and c.1076-1G>C (14%) and we report the first homozygous patient for c.1076-1G>C mutation presenting with an infantile form. Alleles bearing mutation c.-32-13T>G are associated with the same haplotype.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Age of Onset
  • Aged
  • Child
  • Child, Preschool
  • Glycogen Storage Disease Type II / epidemiology
  • Glycogen Storage Disease Type II / genetics*
  • Homozygote
  • Humans
  • Infant
  • Infant, Newborn
  • Lysosomes / enzymology
  • Middle Aged
  • Mutation*
  • Spain / epidemiology
  • alpha-Glucosidases / genetics*
  • alpha-Glucosidases / metabolism


  • alpha-Glucosidases