Learning about Gaucher disease

Philippe Charles Ernest Gaucher

Gaucher disease is a rare and genetic condition, that was first described by French medical student Philippe Gaucher (picture on the right) in 1882. The disease affects every individual in a different way. Gaucher disease is caused by deficiency of an enzyme called acid-β glucosidase. This section gives you basic information on Gaucher disease and addresses inheritance of this genetic disease.


Gaucher disease is caused by build-up of a substrate called glucosylceramide.