Abstract
Gaucher disease is the most common glycolipid storage disease. Type I, the most common form of the disease, is characterised by enlargement of the liver, and spleen and bone lesions. In the rare type II and type III forms of the disorder, central nervous system involvement is present as well. The disease results from a deficiency of the lysosomal enzyme glucocerebrosidase, which is needed for the enzymatic degradation of complex lipids, globosides and gangliosides. In the absence of sufficient glucocerebrosidase activity, the catabolic product glucocerebroside accumulates.
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have