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Gaucher Disease Medication

  • Author: Ellen Sidransky, MD; Chief Editor: Maria Descartes, MD  more...
Updated: Nov 24, 2014

Medication Summary

Several therapies have been approved by the US Food and Drug Administration (FDA) for the treatment of type 1 Gaucher disease. Enzyme replacement therapy (ERT) with glucocerebrosidase purified from human placenta was FDA approved in 1991, followed by approval in 1994 of a recombinant form of the enzyme produced in cultured Chinese hamster ovary (CHO) cells, marketed as imiglucerase (Cerezyme). Worldwide, over 4,000 patients with Gaucher disease have received ERT, which is safe and well tolerated.

In 2010, an alternate form of ERT was approved. This form of recombinant enzyme is produced in cultured human cells and is marketed as velaglucerase alfa (VPRIV).[10, 11] In May 2012, taliglucerase alfa (Elelyso) was the first plant cell–based ERT approved by the FDA; it uses engineered carrot cells.[12]

The glucosylceramide synthase inhibitors, miglustat and eliglustat, were approved for adults with type 1 Gaucher disease in 2003 and 2014 respectively.

Approximately 10-15% of patients with Gaucher disease treated with imiglucerase develop antibodies to the enzyme protein, but few develop any significant allergic reactions, which are controlled with premedication with hydrocortisone, antihistamines, or both. All antibodies have immunoglobulin G (IgG), mostly of the IgG1 subclass. A few patients with Gaucher disease have developed antibodies that impair enzyme activity.


Enzyme replacement therapy

Class Summary

In most cases, ERT is highly effective in reversing the visceral and hematologic manifestations of type 1 Gaucher disease. Recombinant beta-glucocerebrosidase (imiglucerase [Cerezyme]) has replaced the original tissue-derived product, alglucerase (Ceredase). Alglucerase is an orphan drug and still manufactured by Genzyme Corporation on an extremely limited basis for a few patients unable to tolerate the newer recombinant product. Presymptomatic use is controversial because of the high cost and the extremely variable clinical course.

Imiglucerase is approved for children aged 2 years or older. Velaglucerase and taliglucerase are both approved for children aged 4 years or older.

Imiglucerase (Cerezyme)


A recombinant-derived analog of beta-glucocerebrosidase produced in mammalian cell culture and chemically modified by mannose termination of glycosylated amino acids. Catalyzes hydrolytic cleavage of glucocerebroside (a glycoprotein) to glucose and ceramide within the lysosomes of phagocytic cells in the reticuloendothelial system. Treatment with recombinant enzyme improves anemia and thrombocytopenia, reduces spleen and liver size, and decreases cachexia

Velaglucerase alfa (VPRIV)


Hydrolytic lysosomal glucocerebroside-specific enzyme indicated for long-term enzyme replacement therapy for type 1 Gaucher disease. Improves symptoms associated with the disease, including anemia, thrombocytopenia, increased spleen and liver size, and cachexia.

Taliglucerase alfa (Elelyso)


Taliglucerase is a plant-based recombinant enzyme. It catalyzes the hydrolysis of glucocerebroside to glucose and ceramide, which results in reduced spleen and liver enlargement and increased RBCs and platelets.


Glucosylceramide Synthase Inhibitors

Class Summary

These agents inhibit the enzyme glucosylceramide synthase, the initial enzyme in a series of reactions that result in the synthesis of most glycosphingolipids, including glucocerebroside. The goal of treatment is to reduce the rate of glucocerebroside biosynthesis so that the amount is reduced to a level that allows the residual activity of the deficient glucocerebrosidase enzyme to be more effective (substrate reduction therapy).

Miglustat (Zavesca)


Indicated for type 1 Gaucher disease in patients in whom ERT is not a therapeutic option. Reduces GSL production by inhibiting glucosylceramide synthase. Reduces spleen and liver volume and increases hemoglobin and platelet counts.

Eliglustat (Cerdelga)


Eliglustat is a specific inhibitor of glucosylceramide synthase, thereby reducing production of glucosylceramide. It is indicated for the long-term treatment of adults with Gaucher disease type 1 who are CYP2D6 extensive metabolizers (EM), intermediate metabolizers (IM), or poor metabolizers (PM) as detected by an FDA-cleared test for phenotype. Dosage is based on establishing the patient's CYP2D6 metabolizer status.

Contributor Information and Disclosures

Ellen Sidransky, MD Senior Investigator, Chief, Section on Molecular Neurogenetics, Medical Genetics Branch, National Human Genome Research Institute, NIH

Ellen Sidransky, MD is a member of the following medical societies: American Society of Human Genetics, International Parkinson and Movement Disorder Society, Society for Pediatric Research, Society for Inherited Metabolic Disorders

Disclosure: Nothing to disclose.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Chief Editor

Maria Descartes, MD Professor, Department of Human Genetics and Department of Pediatrics, University of Alabama at Birmingham School of Medicine

Maria Descartes, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics and Genomics, American Medical Association, American Society of Human Genetics, Society for Inherited Metabolic Disorders, International Skeletal Dysplasia Society, Southeastern Regional Genetics Group

Disclosure: Nothing to disclose.

Additional Contributors

Robert D Steiner, MD Chief Medical Officer, Acer Therapeutics; Clinical Professor, University of Wisconsin School of Medicine and Public Health

Robert D Steiner, MD is a member of the following medical societies: American Academy of Pediatrics, American Association for the Advancement of Science, American College of Medical Genetics and Genomics, American Society of Human Genetics, Society for Inherited Metabolic Disorders, Society for Pediatric Research, Society for the Study of Inborn Errors of Metabolism

Disclosure: Serve(d) as a director, officer, partner, employee, advisor, consultant or trustee for: Acer Therapeutics; Retrophin; Raptor Pharma; Veritas Genetics; Censa Pharma<br/>Received income in an amount equal to or greater than $250 from: Acer Therapeutics; Retrophin; Raptor Pharma; Censa Pharma.


The author acknosledges the assistance of Mary E. LaMarca, who co-authored the initial version of this chapter prior to her death in 2010.

  1. Harrison L. Evidence Mounting for Eliglustat in Gaucher's Disease. Medscape Medical News. Available at Accessed: November 10, 2014.

  2. Vitner EB, Farfel-Becker T, Eilam R, Biton I, Futerman AH. Contribution of brain inflammation to neuronal cell death in neuronopathic forms of Gaucher's disease. Brain. 2012 Jun. 135(Pt 6):1724-35. [Medline].

  3. Grabowski GA. Phenotype, diagnosis, and treatment of Gaucher's disease. Lancet. 2008 Oct 4. 372(9645):1263-71. [Medline].

  4. Sidransky E, Nalls MA, Aasly JO, Aharon-Peretz J, Annesi G, Barbosa ER. Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. N Engl J Med. 2009 Oct 22. 361(17):1651-61. [Medline]. [Full Text].

  5. Siebert M, Sidransky E, Westbroek W. Glucocerebrosidase is shaking up the synucleinopathies. Brain. 2014 May. 137:1304-22. [Medline]. [Full Text].

  6. Nalls MA, Duran R, Lopez G, Kurzawa-Akanbi M, McKeith IG, Chinnery PF, et al. A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies. JAMA Neurol. 2013 Jun. 70(6):727-35. [Medline]. [Full Text].

  7. Sidransky E, Pastores GM, Mori M. Dosing enzyme replacement therapy for Gaucher disease: older, but are we wiser?. Genet Med. 2009 Feb. 11(2):90-1. [Medline]. [Full Text].

  8. Cerdelga (eliglustat) prescribing information. [package insert]. IDA Industrial Park, Old Kilmeaden Road, Waterford, Ireland: Genzyme Ireland, Ltd. August 2014.

  9. Lowes, R. Medscape Medical News. FDA Clears Eliglustat (Cerdelga) for Gaucher Disease. Available at

  10. Zimran A, Altarescu G, Phillips M, Attias D, Jmoudiak M, Deeb M. Phase I/II and extension study of velaglucerase alfa (Gene-ActivatedTM human glucocerebrosidase) replacement therapy in adults with type 1 Gaucher disease: 48-month experience. Blood. 2010 Mar 18. [Medline].

  11. Sidransky E, Pastores GM, Mori M. Dosing enzyme replacement therapy for Gaucher disease: older, but are we wiser?. Genet Med. 2009 Feb. 11(2):90-1. [Medline]. [Full Text].

  12. Hollak CE. An evidence-based review of the potential benefits of taliglucerase alfa in the treatment of patients with Gaucher disease. Core Evid. 2012. 7:15-20. [Medline]. [Full Text].

  13. Andersson H, Kaplan P, Kacena K, Yee J. Eight-year clinical outcomes of long-term enzyme replacement therapy for 884 children with Gaucher disease type 1. Pediatrics. 2008 Dec. 122(6):1182-90. [Medline].

  14. Westbroek W, Gustafson AM, Sidransky E. Exploring the link between glucocerebrosidase mutations and parkinsonism. Trends Mol Med. 2011 Sep. 17(9):485-93. [Medline]. [Full Text].

  15. Hruska KS, LaMarca ME, Scott CR, Sidransky E. Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA). Hum Mutat. 2008 May. 29(5):567-83. [Medline].

  16. Weinreb NJ, Deegan P, Kacena KA, Mistry P, Pastores GM, Velentgas P, et al. Life expectancy in Gaucher disease type 1. Am J Hematol. 2008 Dec. 83(12):896-900. [Medline].

  17. Mamopoulos AM, Hughes DA, Tuck SM, Mehta AB. Gaucher disease and pregnancy. J Obstet Gynaecol. 2009 Apr. 29(3):240-2. [Medline].

  18. AH Futerman and A Zimran. Gaucher Disease. Boca Raton, FL: CRC Press; 2006.

  19. Amato D, Stachiw T, Clarke JT, Rivard GE. Gaucher disease: variability in phenotype among siblings. J Inherit Metab Dis. 2004. 27(5):659-69. [Medline].

  20. Andersson HC, Charrow J, Kaplan P, et al. Individualization of long-term enzyme replacement therapy for Gaucher disease. Genet Med. 2005 Feb. 7(2):105-10. [Medline].

  21. Barton NW, Brady RO, Dambrosia JM, et al. Replacement therapy for inherited enzyme deficiency--macrophage-targeted glucocerebrosidase for Gaucher's disease. N Engl J Med. 1991 May 23. 324(21):1464-70. [Medline].

  22. Beutler E. Lysosomal storage diseases: natural history and ethical and economic aspects. Mol Genet Metab. 2006 Jul. 88(3):208-15. [Medline].

  23. Beutler E, Gelbart T, Scott CR. Hematologically important mutations: Gaucher disease. Blood Cells Mol Dis. 2005 Nov-Dec. 35(3):355-64. [Medline].

  24. Beutler E, Grabowski GA, CR Scriver, et al Eds. The Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill, New York. 2001. 3635-68.

  25. Bohlega S, Kambouris M, Shahid M, et al. Gaucher disease with oculomotor apraxia and cardiovascular calcification (Gaucher type IIIC). Neurology. 2000 Jan 11. 54(1):261-3. [Medline].

  26. Charrow J, Andersson HC, Kaplan P, et al. Enzyme replacement therapy and monitoring for children with type 1 Gaucher disease: consensus recommendations. J Pediatr. 2004 Jan. 144(1):112-20. [Medline].

  27. Cox TM, Aerts JM, Andria G, et al. The role of the iminosugar N-butyldeoxynojirimycin (miglustat) in the management of type I (non-neuronopathic) Gaucher disease: a position statement. J Inherit Metab Dis. 2003. 26(6):513-26. [Medline].

  28. Depaolo J, Goker-Alpan O, Samaddar T, Lopez G, Sidransky E. The association between mutations in the lysosomal protein glucocerebrosidase and parkinsonism. Mov Disord. 2009 May 7. [Medline]. [Full Text].

  29. Futerman AH, Zimran A. Gaucher Disease. CRC Press, Boca Raton, FL. 2006.

  30. Goker-Alpan O, Schiffmann R, Park JK, et al. Phenotypic continuum in neuronopathic Gaucher disease: an intermediate phenotype between type 2 and type 3. J Pediatr. 2003 Aug. 143(2):273-6. [Medline].

  31. Grabowski GA, Kacena K, Cole JA, et al. Dose-response relationships for enzyme replacement therapy with imiglucerase/alglucerase in patients with Gaucher disease type 1. Genet Med. 2009 Feb. 11(2):92-100. [Medline].

  32. Grabowski GA, Leslie N, Wenstrup R. Enzyme therapy for Gaucher disease: the first 5 years. Blood Rev. 1998 Jun. 12(2):115-33. [Medline].

  33. Itzchaki M, Lebel E, Dweck A, et al. Orthopedic considerations in Gaucher disease since the advent of enzyme replacement therapy. Acta Orthop Scand. 2004 Dec. 75(6):641-53. [Medline].

  34. Jmoudiak M, Futerman AH. Gaucher disease: pathological mechanisms and modern management. Br J Haematol. 2005 Apr. 129(2):178-88. [Medline].

  35. Koprivica V, Stone DL, Park JK, et al. Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease. Am J Hum Genet. 2000 Jun. 66(6):1777-86. [Medline]. [Full Text].

  36. [Guideline] Langlois S, Wilson RD. Carrier screening for genetic disorders in individuals of Ashkenazi Jewish descent. J Obstet Gynaecol Can. 2006 Apr. 28(4):324-43. [Medline].

  37. Lwin A, Orvisky E, Goker-Alpan O, et al. Glucocerebrosidase mutations in subjects with parkinsonism. Mol Genet Metab. 2004 Jan. 81(1):70-3. [Medline].

  38. Mistry PK, Abrahamov A. A practical approach to diagnosis and management of Gaucher's disease. Baillieres Clin Haematol. 1997 Dec. 10(4):817-38. [Medline].

  39. Mitsui J, Mizuta I, Toyoda A, Ashida R, et al. Mutations for Gaucher disease confer high susceptibility to Parkinson disease. Arch Neurol. 2009 May. 66(5):571-6. [Medline].

  40. NIH Technology Assessment Panel on Gaucher Disease. Gaucher disease. Current issues in diagnosis and treatment. JAMA. 1996 Feb 21. 275(7):548-53. [Medline].

  41. Park JK, Orvisky E, Tayebi N, et al. Myoclonic epilepsy in Gaucher disease: genotype-phenotype insights from a rare patient subgroup. Pediatr Res. 2003 Mar. 53(3):387-95. [Medline].

  42. Sibille A, Eng CM, Kim SJ, et al. Phenotype/genotype correlations in Gaucher disease type I: clinical and therapeutic implications. Am J Hum Genet. 1993 Jun. 52(6):1094-101. [Medline]. [Full Text].

  43. Sidransky E. Gaucher disease: complexity in a "simple" disorder. Mol Genet Metab. 2004 Sep-Oct. 83(1-2):6-15. [Medline].

  44. Svennerholm L, Erikson A, Groth CG, et al. Norrbottnian type of Gaucher disease--clinical, biochemical and molecular biology aspects: successful treatment with bone marrow transplantation. Dev Neurosci. 1991. 13(4-5):345-51. [Medline].

  45. Tayebi N, Stone DL, Sidransky E. Type 2 Gaucher disease: an expanding phenotype. Mol Genet Metab. 1999 Oct. 68(2):209-19. [Medline].

  46. Tayebi N, Stubblefield BK, Park JK, et al. Reciprocal and nonreciprocal recombination at the glucocerebrosidase gene region: implications for complexity in Gaucher disease. Am J Hum Genet. 2003 Mar. 72(3):519-34. [Medline].

  47. Weinreb NJ, Aggio MC, Andersson HC, et al. Gaucher disease type 1: revised recommendations on evaluations and monitoring for adult patients. Semin Hematol. 2004 Oct. 41(4 Suppl 5):15-22. [Medline].

  48. Wenstrup RJ, Roca-Espiau M, Weinreb NJ, Bembi B. Skeletal aspects of Gaucher disease: a review. Br J Radiol. 2002. 75 Suppl 1:A2-12. [Medline]. [Full Text].

  49. Zimran A. How I treat Gaucher disease. Blood. 2011 Aug 11. 118(6):1463-71. [Medline].

  50. Zimran A, Altarescu G, Rudensky B, et al. Survey of hematological aspects of Gaucher disease. Hematology. 2005 Apr. 10(2):151-6. [Medline].

Autosomal recessive inheritance pattern.
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