glucocerebrosidase


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glucocerebrosidase

[‚glü·kō‚ser·ə′bräs·i‚dās]
(biochemistry)
An enzyme that removes the glucose from glycosyl ceramide and is defective or missing in Gaucher's disease.
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It is caused by the deficiency, absence or incomplete functioning of an enzyme called glucocerebrosidase, which normally metabolises a fatty substance called glucocerebroside.
Specific therapy for the nonneuronopathic manifestations of Gaucher disease has been available since 1991 firstly in the form of the macrophage targeted placenta-derived glucocerebrosidase (alglucerase, Ceredase [R], Genzyme Corporation, MA) (7), and subsequently (1994 in USA and 1997 in Europe) by recombinant human enzyme, imiglucerase (Cerezyme[R], Genzyme Corporation, MA) (8).
DNA mutations resulting in the production of a specific enzyme called glucocerebrosidase (GBA) have been linked to a five-fold greater risk of developing Parkinson's disease; however, only 30% of individuals with this mutation have been shown to develop Parkinson's disease by the age of 80.
Gaucher disease occurs in people who do not produce enough of an enzyme called glucocerebrosidase.
Oral GCD is a plant cell expressed form of the glucocerebrosidase enzyme (GCD) that is naturally encapsulated within carrot cells and administered orally.
Baseline enzyme activity of glucocerebrosidase in leukocytes
10) Chitotriosidase is markedly increased in the plasma of patients with Gaucher disease, a rare genetic lysosomal storage disorder that is caused by a mutation in the glucocerebrosidase gene.
Deficiency of the lysosomal enzyme glucocerebrosidase results in the intracellular accumulation of undegraded substrates in the spleen, liver and bone marrow.
Velaglucerase alfa has the exact human amino acid sequence as the endogenous glucocerebrosidase enzyme and also has a human glycosylation pattern.
Mutations in the gene encoding the lysosomal enzyme glucocerebrosidase confer the single strongest risk for developing Parkinson's disease of any gene that has been discovered, according to a multicenter analysis of patients from around the world.
Mutations in the enzyme glucocerebrosidase (GCase) cause Gaucher disease.