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Gaucher disease is a rare genetic disorder that causes GL-1 accumulation1
Gaucher disease is caused by a deficiency of the lysosomal enzyme beta-glucosidase. The enzymatic deficiency causes an accumulation of glucosylceramide (GL-1) in the lysosomes.1,2
GL-1 accumulation in cells of the liver, spleen, and bone marrow leads to progressive multiorgan dysfunction. Gaucher disease type 1 can be managed effectively once diagnosed.1,2
Gaucher disease is inherited through an autosomal recessive pattern3
Gaucher disease usually occurs when an individual inherits 2 pathogenic variants within the GBA1 gene, one from each parent.4,5 Individuals who are carriers of these variants are unaffected by Gaucher disease, but can pass it down to their children in the following ways4:
When both parents are carriers, there isa:
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When one parent is a carrier and one is unaffected, there isa:
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When one parent has Gaucher disease and one is unaffected, there isa:
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When one parent has Gaucher disease and one is a carrier, there isa:
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aThe probability of having a child with Gaucher disease type 1 does not change, no matter how many children the parents have.
In most cases, both parents must carry a pathogenic variant in the GBA1 gene to have an affected child. Males and females are affected equally.4
Gaucher disease type 1 is more prevalent than you think
More than 90% of patients with Gaucher disease in the United States are type 1.2 Although Gaucher disease type 1 is a rare genetic condition, it's important to understand its occurrence in different patient populations.
Estimated prevalence of Gaucher disease type3,6
~1 in 40,000
Pan-ethnic and occurs in ~1 in 40,000 in the general population
~1 in 850
Occurs in ~1 in 850 people of Ashkenazi Jewish heritage
~90%
Of Jewish Americans, ~90% are of Ashkenazi Jewish heritage
- In people of Ashkenazi Jewish heritage, Gaucher disease type 1 has a higher incidence (~1 in 850) than hematologic malignancies (~1 in 2500)2
- For individuals of Ashkenazi Jewish heritage, ~1 in 12 is a carrier of Gaucher disease3
Indication
References: 1. Mistry PK et al. Am J Hematol. 2007;82(8):697-701. 2. Mistry PK et al. Am J Hematol. 2011;86(1):110-115. 3. Mistry PK et al. Clin Adv Hematol Onc. 2012;10(6 Suppl 8):1-16. 4. National Organization for Rare Disorders. Gaucher Disease. Published January 2006. Updated September 2024. Accessed May 6, 2025. https://rarediseases.org/rare-diseases/gaucher-disease. 5. Mehta A et al. Mol Gen Metab. 2017;122(3):122-129. 6. Memorial Sloan Kettering Cancer Center. More Ashkenazi Jews have gene defect that raises inherited breast cancer risk. The Oncologist News Bulletin. 1996;1:335. 7. Scott LJ. Drugs. 2015;75(14):1669-1678.