Lysosomal enzyme that hydrolyzes nonreducing terminal α-l-iduronide glycosidic bonds in heparan sulfate and dermatan sulfate. Genetic deficiency of the enzyme results in the lysosomal storage disorder mucopolysaccharidosis-I (MPS-I) also known as Hurler and Scheie syndromes. Identification in human fibroblasts and liver: R. Matalon et al., Biochem. Biophys. Res. Commun. 42, 340 (1971); in human urine: R. W. Barton, E. F. Neufeld, J. Biol. Chem. 246, 7773 (1971). Localization in lysosomes: B. Weissmann, R. Santiago, Biochem. Biophys. Res. Commun. 46, 1430 (1972). Identification as enzymatic defect in Hurler's syndrome: R. Matalon, A. Dorfman, ibid. 47, 959 (1972); G. Bach et al., Proc. Natl. Acad. Sci. USA 69, 2048 (1972). Purification and characterization of multiple forms: P. R. Clements et al., Biochem. J. 259, 199 (1989). Cloning and expression in Chinese hamster ovary cells: H. S. Scott et al., Proc. Natl. Acad. Sci. USA 88, 9695 (1991).
Human α-l-iduronidase produced by recombinant DNA technology in Chinese hamster ovary cells. Prepn and pharmacology: E. D. Kakkis et al., Protein Expression Purif. 5, 225 (1994). See also: E. D. Kakkis, B. Tanamachi, WO 9958691 (1999 to Harbor-UCLA). Clinical evaluation in MPS-I: idem et al., N. Engl. J. Med. 344, 182 (2001).
Enzyme replacement therapy in mucopolysaccharidosis-I.
Enzyme Replacement Therapy