Gaucher disease is inherited as an autosomal recessive disorder. The absence of 
β-glucocerebrosidase whose purpose is to cleave the glucose from ceramide 
results in accumulation of glucocerebroside; storage of this glycolipid results 
in Gaucher disease. There is tremendous clinical heterogeneity: prediction of 
onset of symptoms (if at all), which organs will be affected, and the degree of 
severity of the signs and symptoms are areas of current research. Lysosomal 
storage diseases may be treatable by enzyme replacement therapy. Enzyme 
replacement for Gaucher disease has been attempted intermittently since the 
middle 1970s but was not successful until removal of sugars to expose the inner 
mannose residues allowed the targeting of the enzyme to macrophages via mannose 
receptors. The use of the recombinant imiglucerase (Cerezyme™) as intravenous 
therapy has been safe and effective for the visceral symptoms and signs of 
Gaucher disease in more than 5000 patients world-wide for more than 18 years. 
Nonetheless, beyond enzymes not being able to traverse the blood-brain barrer, 
dependence on a single modality is problematic since not all patients are 
responders, some develop adverse events, and supply may not be forthcoming for 
non-medical reasons. Thus, the availability of new enzymatic preparations, 
velaglucerase alfa (VPRIV™) and taliglucerase alfa (UPLYSO™), as well as 
alternative modalities such as substrate reduction and pharmacological 
chaperones, are important additions to the management portfolio of this disease.