Human Beta-glucocerebrosidase or Beta-D-glucosyl-N-acylsphingosine glucohydrolase E.C. three.2.1.forty five. 497 residue protein with N-linked carbohydrates, MW=59.3 kD. Alglucerase is prepared by using change of the oligosaccharide chains of human Beta-glucocerebrosidase. The amendment alters the sugar residues on the non-decreasing ends of the oligosaccharide chains of the glycoprotein so that they're predominantly terminated with mannose residues.
Gaucher disease is characterized by a functional deficiency in Beta-glucocerebrosidase enzymatic activity and the resultant accumulation of lipid glucocerebroside in tissue macrophages which become engorged and are termed Gaucher cells. Gaucher cells are typically found in liver, spleen and bone marrow. This can lead to an enlarged spleen and liver (hepatosplenomegaly). Secondary hematologic sequelae include severe anemia and thrombocytopenia. Injections of imiglucerase into Gaucher disease patients leads to elevated serum levels of the enzyme and reduction in the accumulation of glucocerebroside leading to reduced anemia and thrombocytopenia, reduced spleen and liver size, and decreased cachexia
For the treatment of Gaucher's disease (deficiency in glucocerebrosidase)
Imiglucerase catalyzes the hydrolysis of the glycolipid, glucocerebroside, to glucose and ceramide as part of the normal degradation pathway for membrane lipids.