Gaucher Disease: Clinical, Biological and Therapeutic Aspects

Pathobiology. 2016;83(1):13-23. doi: 10.1159/000440865. Epub 2015 Nov 21.


We present a brief review of Gaucher disease (GD), the most common lysosomal storage disease. GD is a rare autosomal recessive disorder characterized by the defective function of the catabolic enzyme β-glucocerebrosidase (GBA), leading to an accumulation of its substrate, glucocerebroside. Clinical signs and symptoms include neurological dysfunctions, bone infarcts and malformations, hepatosplenomegaly and hypersplenism leading to anemia, neutropenia and thrombocytopenia. Enzyme replacement therapy with recombinant GBA is the mainstay of treatment for GD, which became the first successfully managed lipid storage disease. Future treatments may include oral enzyme replacement and/or gene therapy interventions.

Publication types

  • Review

MeSH terms

  • Enzyme Replacement Therapy
  • Gaucher Disease / diagnosis
  • Gaucher Disease / physiopathology*
  • Gaucher Disease / therapy*
  • Genetic Therapy
  • Glucosylceramidase / genetics
  • Glucosylceramidase / therapeutic use
  • Humans
  • Hypersplenism / etiology
  • Splenomegaly / etiology


  • Glucosylceramidase