Title: Acid a-Glucosidase
Additional Names: Acid maltase; lysosomal a-glucosidase; GAA
Literature References: Lysosomal enzyme that hydrolyzes a-1,4- and a-1,6-glucosidic linkages in oligosaccharides and a-glucans to liberate glucose at acid pH. Natural substrate is glycogen stored in lysosomes. Produced as a 110 kDa glycosylated precursor that is routed to lysosomes via the mannose-6-phosphate recognition marker and is proteolytically processed to the mature forms of 70 and 76 kDa. Genetic deficiency of the enzyme results in a glycogen storage disorder known as Pompe's disease. Identification and role in disease: H. G. Hers, Biochem. J. 86, 11 (1963). Localization in liver lysosomes: N. Lejeune et al., ibid. 16. Purification: F. Auricchio, C. B. Bruni, ibid. 105, 35 (1967); F. Auricchio et al., ibid. 108, 161 (1968). Review: R. Hirschhorn in The Metabolic and Molecular Bases of Inherited Disease, C. R. Scriver et al., Eds. (McGraw-Hill, New York, 7th Ed., 1995) pp 2443-2464.
Derivative Type: Alglucosidase alfa
CAS Registry Number: 420784-05-0
CAS Name: [199-arginine, 223-histidine]prepro-a-glucosidase (human)
Trademarks: Myozyme (Genzyme)
Literature References: Recombinant human precursor form. Production in Chinese hamster ovary cells: J. L. K. Van Hove et al., Proc. Natl. Acad. Sci. USA 93, 65 (1996). Clinical evaluation in Pompe patients: A. Amalfitano et al., Genet. Med. 3, 132 (2001).
Therap-Cat: Enzyme replacement therapy for Pompe's disease.
Keywords: Enzyme Replacement Therapy. |