Characterized by deficiency in the beta-glucocerebrosidase enzyme.

There is an accumulation of Glucocerebroside

Symptoms include hepatosplenomegaly, mental retardation in infants, and long-bone degeneration.

Reference:
1. Ganong's Review of Medical Physiology: 23rd Edition.  Kim E. Barrett et al.  McGraw-Hill Publishing. 2010.