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A person who inherits this gene does not have enough of a functioning enzyme known as alpha-galactosidase A. The lack of alpha-galactosidase leads to Fabry disease. A deficiency of alpha-galactosidase A (a-GAL A, encoded by GLA) due to mutation causes a glycolipid known as globotriaosylceramide (abbreviated as Gb3, GL-3, or ceramide trihexoside ...
α-Galactosidase ( EC 3.2.1.22, α-GAL, α-GAL A; systematic name α-D-galactoside galactohydrolase) is a glycoside hydrolase enzyme that catalyses the following reaction: [1] Hydrolysis of terminal, non-reducing α- D -galactose residues in α- D -galactosides, including galactose oligosaccharides, galactomannans and galactolipids
Pegunigalsidase alfa, sold under the brand name Elfabrio, is an enzyme replacement therapy for the treatment of Fabry disease. [2] [4] It is a recombinant human α-galactosidase-A. [4] It is a hydrolytic lysosomal neutral glycosphingolipid-specific enzyme. [2] The most common side effects are infusion-related reactions, hypersensitivity and ...
When the target gene is not found in the vector, the alpha fragment gene would be active, producing the alpha fragment and allowing for B-galactosidase to gain its activity. To trace the activity of B-galactosidase a colorless analog of lactose is used, X-gal. The hydrolysis of X-gal by B-galactosidase produces galactose, a blue colored compound.
Two recombinant enzyme replacement therapies are available to functionally compensate for α-galactosidase deficiency. Agalsidase α and β are both recombinant forms of the human α-galactosidase A enzyme and both have the same amino acid sequence as the native enzyme. Agalsidase α and β differ in the structures of their oligosaccharide side ...
Migalastat is used for the long-term treatment of Fabry disease in adults and adolescents aged 16 or older with an amenable mutation of the enzyme alpha-galactosidase A (α-GalA). An "amenable" mutation is one that leads to misfolding of the enzyme, but otherwise would not significantly impair its function. [8]
Alpha-galactosidase, an enzyme; Galactose-alpha-1,3-galactose, a carbohydrate also known as Galili antigen; Alpha-gal allergy This page was last edited on 26 June ...
Defects in the enzyme alpha-galactosidase lead to the buildup of globotriaosylceramide, causing Fabry's disease. [3] The pharmaceutical drug migalastat enhances the function of alpha-galactosidase and is used to treat Fabry's.