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β-Glucocerebrosidase (also called acid β-glucosidase, D-glucosyl-N-acylsphingosine glucohydrolase, or GCase) is an enzyme with glucosylceramidase activity (EC 3.2.1.45) that cleaves by hydrolysis the β-glycosidic linkage of the chemical glucocerebroside, an intermediate in glycolipid metabolism that is abundant in cell membranes (particularly skin cells). [5]
It is a recombinant DNA-produced analogue of the human enzyme β-glucocerebrosidase. Cerezyme is a freeze-dried medicine containing imiglucerase, manufactured by Genzyme Corporation. It is given intravenously after reconstitution as a treatment for Type 1 and Type 3 [4] Gaucher's disease. It is available in formulations containing 200 or 400 ...
Taliglucerase alfa, sold under the brand name Elelyso among others, is a biopharmaceutical medication developed by Protalix and Pfizer. [3] [4] [full citation needed] The drug, a recombinant glucocerebrosidase used to treat Gaucher's disease, is the first plant-made pharmaceutical to win approval by the U.S. Food and Drug Administration (FDA).
Type III: muscle twitches known as myoclonus, convulsions, dementia, and ocular muscle apraxia; Parkinson's disease is recognized as being more common in Gaucher's disease patients and their heterozygous carrier relatives. [5] Osteoporosis: 75% of patients develop visible bony abnormalities due to the accumulated glucosylceramide.
The term "steroid dementia" was coined by Varney et al. (1984) in reference to the effects of long-term glucocorticoid use in 1,500 patients. [3] While the condition generally falls under the classification of Cushing's syndrome , the term "steroid dementia syndrome" is particularly useful because it recognizes both the cause of the syndrome ...
Between 40% and 80% of people with Alzheimer's disease possess at least one APOEε4 allele. [63] The APOEε4 allele increases the risk of the disease by three times in heterozygotes and by 15 times in homozygotes. [64] Like many human diseases, environmental effects and genetic modifiers result in incomplete penetrance.
In Gaucher's disease, the enzyme glucocerebrosidase is nonfunctional and cannot break down glucocerebroside into glucose and ceramide in the lysosome. [1] Affected macrophages, called Gaucher cells, have a distinct appearance similar to "wrinkled tissue paper" under light microscopy, because the substrates build-up within the lysosome.
ARIA-E refers to cerebral edema, involving the breakdown of the tight endothelial junctions of the blood-brain barrier and subsequent accumulation of fluid. [3] In a double-blind trial of the humanised monoclonal antibody solanezumab (n = 2042), sixteen patients (11 taking the drug, 5 taking a placebo), or 0.78% developed ARIA-E.