Type 2 Gaucher disease: phenotypic variation and genotypic heterogeneity

Blood Cells Mol Dis. 2011 Jan 15;46(1):75-84. doi: 10.1016/j.bcmd.2010.08.012. Epub 2010 Sep 28.


Gaucher disease (GD), the most common lysosomal storage disease, results from a deficiency of the lysosomal enzyme glucocerebrosidase. GD has been classified into 3 types, of which type 2 (the acute neuronopathic form) is the most severe, presenting pre- or perinatally, or in the first few months of life. Traditionally, type 2 GD was considered to have the most uniform clinical phenotype when compared to other GD subtypes. However, case studies over time have demonstrated that type 2 GD, like types 1 and 3, manifests with a spectrum of phenotypes. This review includes case reports that illustrate the broad range of clinical presentations encountered in type 2 GD, as well as a discussion of associated manifestations, pathological findings, diagnostic techniques, and a review of current therapies. While type 2 GD is generally associated with severe mutations in the glucocerebrosidase gene, there is also significant genotypic heterogeneity.

Publication types

  • Case Reports
  • Research Support, N.I.H., Intramural
  • Review

MeSH terms

  • Female
  • Gaucher Disease / genetics*
  • Gaucher Disease / pathology*
  • Gaucher Disease / physiopathology
  • Gaucher Disease / therapy
  • Genetic Variation*
  • Genotype
  • Glucosylceramidase / genetics*
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Phenotype*


  • Glucosylceramidase