Abstract
Enzyme replacement therapy for the lysosomal storage disorders derives its impetus from the successes achieved in the treatment of Gaucher disease. After nearly two decades of persistent but unsuccessful efforts, the promise of therapy through enzyme replacement was losing credibility. Then, the fortunate intersection of two different lines of scientific research produced the necessary breakthrough. The dramatic responses to enzyme replacement therapy in patients with Gaucher disease made it immediately clear that this treatment approach was a success. Furthermore, the large number of patients with the disorder guaranteed commercial involvement. The lessons learned from the development of enzyme replacement therapy for Gaucher disease are broadly applicable to other lysosomal storage diseases and will be reviewed in this paper.
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REFERENCES
Ashwell G, Morell AG (1974) The role of surface carbohydrates in the hepatic recognition and transport of circulating glycoproteins. In Wood WA, ed. Advances in Enzymology, Vol. 41. New York: Academic Press, 99–128.
Barranger JA, Ginns EI (1989) Glucosylceramide lipidosis: Gaucher disease. In Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic Basis of Inherited Disease, 6th Edn. New York: McGraw-Hill, 1677–1698.
Barranger JA, Ohashi T, Hong CM, et al (1989) Molecular pathology and therapy of Gaucher disease. Jpn J Inherit Metab Dis 51: 45–71.
Barranger JA, Rice E, Sakallah S, Sansieri C, Mifflin T, Cooper D (1995) Enzymatic and molecular diagnosis of Gaucher disease. Clin Lab Med 15: 899–913.
Erickson AH, Ginns EI, Barranger JA (1985) Biosynthesis of the lysosomal enzyme, glucocerebrosidase. J Biol Chem 260: 14319–14324.
Furbish FS, Steer CJ, Krett NL, Barranger JA (1981) Uptake and distribution of placental glucocerebrosidase in rat hepatic cells and effects of sequential deglycosylation. Biochim Biophys Acta 673: 425–434.
Murray GJ, Youle RJ, Gandy SE, Zirzow GC, Barranger JA (1985) Purification of betaglucocerebrosidase by preparative-scale high-performance liquid chromatography: The use of ethylene glycol-containing buffers for chromatography of hydrophobic glycoprotein enzymes. Anal Biochem 147: 301–310.
Oka S, Kawasaki T, Yamashina I (1985) Isolation and characterization of mannan-binding proteins from chicken liver. Arch Biochim Biophys 241: 95–105.
Takasaki S, Murray GJ, Furbish FS, Brady RO, Barranger JA, Kobata A (1984) Structure of the N-asparagine-linked oligosaccharide units of human placental glucocerebrosidase. J Biol Chem 259: 10112–10117.
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Barranger, J.A., O'Rourke, E. Lessons learned from the development of enzyme therapy for Gaucher disease. J Inherit Metab Dis 24 (Suppl 2), 89–96 (2001). https://doi.org/10.1023/A:1012440428282
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DOI: https://doi.org/10.1023/A:1012440428282