Title: a-Galactosidase A
Additional Names: Ceramide trihexosidase
Literature References: Lysosomal enzyme that hydrolyzes terminal a-D-galactose residues in oligosaccharides and galactolipids. Genetic deficiency of the enzyme results in the glycosphingolipid storage disorder known as Fabry's disease. Homodimeric glycoprotein, mol wt ~101 kDa. Targeted to lysosomes via the mannose-6-phosphate receptor. Identification and role in disease: R. O. Brady et al., N. Engl. J. Med. 276, 1163 (1967). Identification as an a-galactosidase: J. A. Kint, Science 167, 1268 (1970). Use in enzyme replacement therapy: R. J. Desnick et al., Proc. Natl. Acad. Sci. USA 76, 5326 (1979). Review: R. J. Desnick et al. in The Metabolic and Molecular Bases of Inherited Disease, C. R. Scriver et al., Eds. (McGraw-Hill, New York, 7th Ed., 1995) pp 2741-2784.
Derivative Type: Agalsidase alfa
CAS Registry Number: 104138-64-9
CAS Name: a-Galactosidase (human clone lAG18 isoenzyme A subunit protein moiety reduced)
Trademarks: Replagal (Transkaryotic)
Literature References: Human a-galactosidase A produced by recombinant DNA technology in cultured human cells. See: R. F. Selden et al., WO 9811206 (1998 to Transkaryotic Therapies). Clinical pharmacology and pharmacokinetics: R. Schiffmann et al., Proc. Natl. Acad. Sci. USA 97, 365 (2000).
Derivative Type: Agalsidase beta
Trademarks: Fabrazyme (Genzyme)
Literature References: Human a-galactosidase A produced by recombinant DNA technology in Chinese hamster ovary cells. See: R. J. Desnick et al., US 5356804 (1994 to Mt. Sinai School of Med.). Clinical trial in Fabry's disease: C. M. Eng et al., N. Engl. J. Med. 345, 9 (2001).
Therap-Cat: Enzyme replacement therapy for Fabry's disease.
Keywords: Enzyme Replacement Therapy. |