Imiglucerase is a recombinant type of beta-glucocerebrosidase, a catalyst that enhances the hydrolysis of glucocerebroside to glucose and ceramide. It is used to supplant glucocerebrosidase, an enzyme that is lacking in Gaucher’s disease.
Gaucher’s disease is the most common lysosomal storage disease that occurs when gene mutations that encode beta-glucocerebrosidase can no longer function to stop its breakdown and leads to the accumulation of glucocerebrosides in the macrophages and monocyte cells. There are three types of Gaucher’s disease and they are delineated by the absence or presence of neurologic involvement. Type 1 is known as the chronic non-neuropathic form and is more common. It has limited phagocytosis to glucocerebrosidase storage throughout the body, though it is seen primarily in the spleen and bone marrow.
The other type is acute neuropathic Gaucher’s disease, which is also considered as Type II disease. This is dominated by progressive central nervous system disease, causing an infantile acute cerebral pattern. Type III disease is a combination of Type I and Type II and involves systemic glucocerebroside storage throughout the body; it is also a progressive central nervous system disease. All the stages of the disease require attention, but the only type I disease is treatable through recombinant enzyme replacement therapy.
