About Gaucher Disease

Gaucher disease is one of the most common lysosomal storage disorders (LSD). The disease is caused by mutation of the GBA gene encoding acid β-glucosidase, a lysosomal enzyme involved in the degradation of glucosylceramide.1

Testing & Diagnosis

A diagnosis of Gaucher disease is based on clinical signs and symptoms, medical and family history, and confirmative testing using laboratory assays. Gaucher disease may also be diagnosed in asymptomatic individuals identified through family screening.2


Case Studies

Gaucher Disease Cases

The diagnosis of Gaucher disease can present a significant clinical challenge. However, it can be accurately diagnosed and successfully managed if detected early.


Treating Gaucher

Enzyme replacement therapy (ERT) is currently available to eligible Australian patients with Gaucher disease through the Life Saving Drugs Program.



Access resources, including the Cappellini protocol, a simple and effective approach to screening for Gaucher disease in selected patient populations with splenomegaly and/or thrombocytopenia.


  1. 1.Grabowski GA. (2008) Phenotype, diagnosis, and treatment of Gaucher's disease. Lancet 372(9645): 1263-1271
  1. 2.Kaplan P, Baris H, De Meirleir L, et al. (2013) Revised recommendations for the management of Gaucher disease in children. Eur J Pediatr 172(4): 447-458.