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)
The gene encoding β-glucocerebrosidase (acid β-glucosidase) mapped to 1q21
Caused by mutation in the glucocerebrosidase ( GBA) gene that results in deficiency of β-glucocerebrosidase activity
Over 200 different mutations reported.
Four common mutations...
KeywordsEnzyme Replacement Therapy Gauche Disease Club Foot Preimplantation Genetic Diagnosis Hepatopulmonary Syndrome
- 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
- 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
- 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
- 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
- Pastores, G. M., & Hughes, D. A. (2011). Gaucher disease. GeneReviews. Updated July 21, 2011. Available at: http://www.ncbi.nlm.nih.gov/books/NBK1269/.
- 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
- 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