Alglucerase is a mannose-terminated form of human placental glucocerebrosidase, 
developed to treat patients with Gaucher's disease. Functional 
glucocerebrosidase is deficient in Gaucher's disease, an autosomal recessive 
lipid storage disorder that affects people of all ethnic backgrounds, but has a 
higher incidence among East European Jews (Ashkenazim). Gaucher's disease 
manifests with hepatosplenomegaly, bleeding disorders and bone disease, with the 
more rare subtypes (types 2 and 3) featuring neurological dysfunction. Prior to 
the development of enzyme replacement therapy, treatment for Gaucher's disease 
was mainly symptomatic relief. Primary treatment with glucocerebrosidase focuses 
on removal of the lipid metabolite that causes the pathology. Because of the 
rarity of Gaucher's disease clinical trials are small, and much of the data 
investigating alglucerase therapy have been obtained from studies of patients 
with type 1 disease, the prevalent subtype. Nonetheless, after intravenous 
administration of alglucerase, improvements are evident within 6 months of 
therapy. Patients have increased haemoglobin levels and platelet counts, and 
decreased incidences of epistaxis and bruising. Spleen and liver size are 
reduced, and skeletal parameters improve. Children gain height and most patients 
receiving alglucerase therapy are able to resume work and daily activities. 
Alglucerase is well tolerated, with few mild adverse reactions reported. 
Although the pharmacokinetic and pharmacodynamic information for alglucerase is 
limited, its unequivocal efficacy justifies enzyme replacement therapy with this 
compound as first-line treatment for patients with Gaucher's disease, for whom 
treatment options are limited.