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Fabry disease is an inherited lysosomal storage disorder that is caused by a deficiency of alpha-galactosidase A. This enzyme deficiency is a result of an accumulation of glycosphingolipids found in the lysosomes and most cell types and tissues, which leads it to be considered a multisystem disease.
Alpha-galactosidase (EC 3.2.1.22) (melibiase) [8] catalyzes the hydrolysis of melibiose into galactose and glucose. In man, the deficiency of this enzyme is the cause of Fabry's disease (X-linked sphingolipidosis). Alpha-galactosidase is present in a variety of organisms.
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 ...
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
2717 11605 Ensembl ENSG00000102393 ENSMUSG00000031266 UniProt P06280 P51569 RefSeq (mRNA) NM_000169 NM_013463 RefSeq (protein) NP_000160 NP_038491 Location (UCSC) Chr X: 101.39 – 101.41 Mb Chr X: 133.49 – 133.5 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Galactosidase alpha is an enzyme that in humans is encoded by the GLA gene. Two recombinant forms of human α-galactosidase ...
Galactosidases are enzymes (glycoside hydrolases) that catalyze the hydrolysis of galactosides into monosaccharides.. Galactosides can be classified as either alpha or beta. If the galactoside is classified as an alpha-galactoside, the enzyme is called alpha-galactosidase, and is responsible for catalyzing the hydrolysis of substrates that contain α-galactosidic residues, such as ...
Schindler disease, also known as Kanzaki disease and alpha-N-acetylgalactosaminidase deficiency, is a rare disease found in humans.This lysosomal storage disorder is caused by a deficiency in the enzyme alpha-NAGA (alpha-N-acetylgalactosaminidase), attributable to mutations in the NAGA gene on chromosome 22, [1] [2] which leads to excessive lysosomal accumulation of glycoproteins. [3]
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.
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