Gaucher disease is a rare, inherited metabolic disorder and is classified as a type of lysosomal storage disease known as sphingolipidosis.1 The worldwide prevalence of Gaucher disease varies by geography, but generally ranges from 0.70 to 1.75 per 100,000 individuals and is substantially higher among the Ashkenazi Jewish population.2-4 This website provides educational resources intended for healthcare professionals outside of the US and UK with an interest in Gaucher disease. It aims to share scientific advances in Gaucher disease research and provide expert opinions and medical education to support the healthcare professional community.
C-ANPROM/INT//7571; Date of preparation: September 2020
- Stirnemann J, Belmatoug N, Camou F, et al. A review of Gaucher disease pathophysiology, clinical presentation and treatments. Int J Mol Sci 2017; 18: 441.
- Nalysnyk L, Rotella P, Simeone JC, et al. Gaucher disease epidemiology and natural history: a comprehensive review of the literature. Hematology 2017; 22: 65-73.
- Zimran A, Gelbart T, Westwood B, et al. High frequency of the Gaucher disease mutation at nucleotide 1226 among Ashkenazi Jews. Am J Hum Genet 1991; 49: 855-859.
- Zimran A, Elstein D. Gaucher disease and related lysosomal storage diseases. In: Kaushansky K, Lichtman M, Prchal J, et al., eds. Williams Hematology. 9th ed; New York, NY: McGraw-Hill, 2016.