Gaucher Disease

Reference work entry

Gaucherdisease is the most common lysosomal storage disease and the most common genetic disorder among Ashkenazi Jews. The disease incidence in the Ashkenazi population in Israel is 1 in 7,750 to 1 in 10,000. The disease frequency in the Caucasian population is approximately 1 in 50,000 live births (Grabowski 2000).

Synonyms and Related Disorders

Acid beta-glucocerebrosidase deficiency; Gaucher disease type 1 (non-neuropathic type); Gaucher disease type 2 (acute neuropathic type); Gaucher disease type 3 (chronic neuropathic type); Gaucher disease type 4 (cardiovascular type); Glucocerebrosidase deficiency; Perinatal lethal Gaucher disease (collodion type)

Genetics/Basic Defects

  1. 1.
    1. a.

      Autosomal recessive

    2. b.

      The gene encoding β-glucocerebrosidase (acid β-glucosidase) mapped to 1q21

  2. 2.
    Caused by mutation in the glucocerebrosidase ( GBA) gene that results in deficiency of β-glucocerebrosidase activity
    1. a.

      Over 200 different mutations reported.

    2. b.
      Four common mutations...


Enzyme Replacement Therapy Gauche Disease Club Foot Preimplantation Genetic Diagnosis Hepatopulmonary Syndrome 
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  1. Altarescu, G., Renbaum, P., Eldar-Genva, T., et al. (2010). Preimplantation genetic diagnosis (PGD) for a treatable disorder: Gaucher disease type 1 as a model. Blood Cells, Molecules & Diseases, 46, 15–18.CrossRefGoogle Scholar
  2. Balicki, D., & Beutler, E. (1995). Gaucher disease. Medicine Baltimore, 74, 305–323.PubMedCrossRefGoogle Scholar
  3. Barranger, J. A., & O’Rourke, E. (2001). Lessons learned from the development of enzyme therapy for Gaucher disease. Journal of Inherited Metabolic Disease, 24(Suppl 2), 89–96, discussion 87–88.PubMedCrossRefGoogle Scholar
  4. Barranger, J. A., Rice, E., Sakallah, S. A., et al. (1995). Enzymatic and molecular diagnosis of Gaucher disease. Clinics in Laboratory Medicine, 15, 899–913.PubMedGoogle Scholar
  5. Bembi, B., Ciana, G., Mengel, E., et al. (2002). Bone complications in children with Gaucher disease. The British Journal of Radiology, 75(Suppl. 1), A37–A43.PubMedGoogle Scholar
  6. Bove, K. E., Daugherty, C., & Grabowski, G. A. (1995). Pathological findings in Gaucher disease type 2 patients following enzyme therapy. Human Pathology, 26, 1040–1045.PubMedCrossRefGoogle Scholar
  7. Cabrera-Salazar, M. A., Novelli, E., & Barranger, J. A. (2002). Gene therapy for the lysosomal storage disorders. Current Opinion in Molecular Therapeutics, 4, 349–358.PubMedGoogle Scholar
  8. Charrow, J. (2009). Enzyme replacement therapy for Gaucher disease. Expert Opinion on Biological Therapy, 9, 121–131.PubMedCrossRefGoogle Scholar
  9. Charrow, J., Andersson, H. C., Kaplan, P., et al. (2000). The Gaucher registry: Demographics and disease characteristics of 1698 patients with Gaucher disease. Archives of Internal Medicine, 160, 2835–2843.PubMedCrossRefGoogle Scholar
  10. Charrow, J., Esplin, J. A., Gribble, T. J., et al. (1998). Gaucher disease: Recommendations on diagnosis, evaluation, and monitoring. Archives of Internal Medicine, 158, 1754–1760.PubMedCrossRefGoogle Scholar
  11. Desnick, R. J. (1982a). Gaucher disease: A century of delineation and understanding. Progress in Clinical and Biological Research, 95, 1–30.PubMedGoogle Scholar
  12. Desnick, R. J. (1982b). Gaucher disease (1882–1982): Centennial perspectives on the most prevalent Jewish genetic disease. The Mount Sinai Journal of Medicine, 49, 443–455.Google Scholar
  13. Enquist, I. B., Nilsson, E., Ooka, A., et al. (2006). Effective cell and gene therapy in a murine model of Gaucher disease. Proceedings of the National Academy of Sciences of the United States of America, 103, 13819–13824.PubMedCrossRefGoogle Scholar
  14. Ficicioglu, C. (2008). Review of miglustat for clinical management in Gaucher disease type I. Journal of Therapeutics and Clinical Risk Management, 4, 425–431.Google Scholar
  15. Grabowski, G. A. (1997). Gaucher disease: Gene frequencies and genotype/phenotype correlations. Genetic Testing, 1, 5–12.PubMedGoogle Scholar
  16. Grabowski, G. A. (2000). Gaucher disease: Considerations in prenatal diagnosis. Prenatal Diagnosis, 20, 60–62.PubMedCrossRefGoogle Scholar
  17. Grabowski, G. A., Leslie, N., & Wenstrup, R. (1998). Enzyme therapy in Gaucher disease: A five-year perspective. Blood Reviews, 12, 115–133.PubMedCrossRefGoogle Scholar
  18. Grabowski, G. A., Saal, H. M., Wenstrup, R. J., et al. (1996). Gaucher disease: A prototype for molecular medicine. Critical Reviews in Oncology/Hematology, 23, 25–55.PubMedCrossRefGoogle Scholar
  19. Harmanci, O., & Bayraktar, Y. (2008). Gaucher disease: New development in treatment and etiology. World Journal of Gastroenterology, 14, 3968–3973.PubMedCrossRefGoogle Scholar
  20. Kim, E. Y., Hong, Y. B., Lai, Z., et al. (2004). Expression and secretion of human glucocerebrosidase mediated by recombinant lentivirus vectors in vitro and in vivo: Implications for gene therapy of Gaucher disease. Biochemical and Biophysical Research Communications, 318, 381–390.PubMedCrossRefGoogle Scholar
  21. Maas, M., Poll, L. W., & Terk, M. R. (2002). Imaging and quantifying skeletal involvement in Gaucher disease. The British Journal of Radiology, 75(Suppl 1), A13–A24.PubMedGoogle Scholar
  22. McCabe, E. R. B., Fine, B. A., Golbus, M. S., et al. (1996). Gaucher disease-current issue in diagnosis and treatment. NIH Technology Assessment Conference. Journal of American Medical Association, 275, 548–553.CrossRefGoogle Scholar
  23. McEachern, K. A., Nietupski, J. B., Chuang, W. L., et al. (2006). AAV8-mediated expression of glucocerebrosidase ameliorates the storage pathology in the visceral organs of a mouse model of Gaucher disease. The Journal of Gene Medicine, 8, 719–772.PubMedCrossRefGoogle Scholar
  24. Meikle, P. J., Hopwood, J. J., Clague, A. E., et al. (1999). Prevalence of lysosomal storage disorders. Journal of American Medical Association, 281, 249–254.CrossRefGoogle Scholar
  25. Mignot, C., Gelot, A., Bessieres, B., et al. (2003). Perinatal-lethal Gaucher disease. American Journal of Medical Genetics, 120A, 338–344.PubMedCrossRefGoogle Scholar
  26. Orvisky, E., Park, J. K., LaMarca, M. E., et al. (2002). Glucosylsphingosine accumulation in tissues from patients with Gaucher disease: Correlation with phenotype and genotype. Molecular Genetics and Metabolism, 76, 262–270.PubMedCrossRefGoogle Scholar
  27. Pastores, G. M., & Barnett, N. L. (2003). Substrate reduction therapy: Miglustat as a remedy for symptomatic patients with Gaucher disease type 1. Expert Opinion on Investigational Drugs, 12, 273–281.PubMedCrossRefGoogle Scholar
  28. Pastores, G. M., & Einhorn, T. A. (1995). Skeletal complications of Gaucher disease: Pathophysiology, evaluation and treatment. Seminars in Hematology, 32(S1), 20–27.Google Scholar
  29. Pastores, G. M., & Hughes, D. A. (2011). Gaucher disease. GeneReviews. Updated July 21, 2011. Available at:
  30. Pastores, G. M., Patel, M. J., & Firooznia, H. (2000). Bone and joint complications related to Gaucher disease. Current Rheumatology Reports, 2, 175–180.PubMedCrossRefGoogle Scholar
  31. Pastores, G. M., Sibille, A. R., & Grabowski, G. A. (1993). Enzyme therapy in Gaucher disease type 1: Dosage efficacy and adverse effects in 33 patients treated for 6 to 24 months. Blood, 82, 408–416.PubMedGoogle Scholar
  32. Poll, L. W., Maas, M., Terk, M. R., et al. (2002). Response of Gaucher bone disease to enzyme replacement therapy. The British Journal of Radiology, 75(Suppl 1), A25–A36.PubMedGoogle Scholar
  33. Ringden, O., Groth, C. G., Erikson, A., et al. (1995). Ten years’ experience of bone marrow transplantation for Gaucher disease. Transplantation, 59, 864–870.PubMedGoogle Scholar
  34. Rosenberg, M., Kingma, W., Fitzpatrick, M. A., et al. (1999). Immunosurveillance of alglucerase enzyme therapy for Gaucher patients: Induction of humoral tolerance in seroconverted patients after repeat administration. Blood, 93, 2081–2088.PubMedGoogle Scholar
  35. Rosenthal, D. I., Doppelt, S. H., Mankin, H. J., et al. (1995). Enzyme replacement therapy for Gaucher disease: Skeletal responses to macrophage-targeted glucocerebrosidase. Pediatrics, 96, 629–637.PubMedGoogle Scholar
  36. Rowlands, S., & Murray, H. (1997). Prenatal ultrasound findings in a fetus diagnosed with Gaucher’s disease (type 2) at birth. Prenatal Diagnosis, 17, 765–769.PubMedCrossRefGoogle Scholar
  37. Sawkar, A. R., Cheng, W. C., Beutler, E., et al. (2002). Chemical chaperones increase the cellular activity of N370S beta-glucosidase: A therapeutic strategy for Gaucher disease. Proceedings of the National Academy of Sciences of the United States of America, 99, 15428–15433.PubMedCrossRefGoogle Scholar
  38. Sibille, A., Eng, C. M., Kim, S. J., et al. (1993). Phenotype/genotype correlations in Gaucher disease type I: Clinical and therapeutic implications. American Journal of Human Genetics, 52, 1094–1101.PubMedGoogle Scholar
  39. Sidransky, E. (1997). New perspectives in type 2 Gaucher disease. Advances in Pediatrics, 44, 73–107.PubMedGoogle Scholar
  40. Sidransky, E., Tayebi, N., & Ginns, E. I. (1995). Diagnosing Gaucher disease. Early recognition, implications for treatment, and genetic counseling. Clinical Pediatrics, 34, 365–371.PubMedCrossRefGoogle Scholar
  41. Sidransky, E., Tayebi, N., Stubblefield, B. K., et al. (1996). The clinical, molecular, and pathological characterisation of a family with two cases of lethal perinatal type 2 Gaucher disease. American Journal of Medical Genetics, 33, 132–136.CrossRefGoogle Scholar
  42. Stone, D. L., Carey, W. F., Christodoulou, J., et al. (2000). Type 2 Gaucher disease: The collodion baby phenotype revisited. Archives of Disease in Childhood-Fetal and Neonatal Edition, 82, F163–F166.PubMedCrossRefGoogle Scholar
  43. Tayebi, N., Cushner, S. R., Kleijer, W., et al. (1997). Prenatal lethality of a homozygous null mutation in the human glucocerebrosidase gene. American Journal of Medical Genetics, 73, 41–47.PubMedCrossRefGoogle Scholar
  44. Tayebi, N., Stone, D. L., & Sidransky, E. (1999). Type 2 Gaucher disease: An expanding phenotype. Molecular Genetics and Metabolism, 68, 209–219.PubMedCrossRefGoogle Scholar
  45. Vellodi, A., Bembi, B., de Villemeur, T. B., et al. (2001). Management of neuronopathic Gaucher disease: A European consensus. Journal of Inherited Metabolic Disease, 24, 319–327.PubMedCrossRefGoogle Scholar
  46. Weinreb, N. J., Charrow, J., Andersson, H. C., et al. (2002). Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: A report from the Gaucher Registry. American Journal of Medical Genetics, 113, 112–119.Google Scholar
  47. Wenstrup, R. J., Roca-Espiau, M., Weinreb, N. J., et al. (2002). Skeletal aspects of Gaucher disease: A review. The British Journal of Radiology, 75(Suppl 1), A2–A12.PubMedGoogle Scholar

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