Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling

Eur J Hum Genet. 1999 Sep;7(6):713-6. doi: 10.1038/sj.ejhg.5200367.


Glycogen storage disease type II (GSD H) is an autosomal recessive myopathy. Early and late-onset phenotypes are distinguished - infantile, juvenile and adult. Three mutations in the acid alpha-glucosidase gene are common in the Dutch patient population: IVS1(-13T-->G), 525delT and delexon18. 63% of Dutch GSD II patients carry one or two of these mutations, and the genotype-phenotype correlation is known. To determine the frequency of GSD II, we have screened an unselected sample of neonates for the occurrence of these three mutations. Based on the calculated carrier frequencies, the predicted frequency of the disease is 1 in 40000 divided by 1 in 138 000 for infantile GSD II and 1 in 57 000 for adult GSD II. This is about two to four times higher than previously suggested, which is a reason to become more familiar with the presentation of GSD II in its different clinical forms and to adjust the risk assessment for genetic counselling.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • DNA Mutational Analysis
  • Exons
  • Gene Deletion
  • Genetic Counseling
  • Genetic Testing
  • Genotype
  • Glycogen Storage Disease Type II / diagnosis*
  • Glycogen Storage Disease Type II / epidemiology*
  • Glycogen Storage Disease Type II / genetics*
  • Heterozygote
  • Humans
  • Infant, Newborn
  • Netherlands / epidemiology
  • Penetrance
  • Phenotype
  • Point Mutation
  • Prevalence
  • Risk Factors