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Disease overview: How the disease occurs

Gaucher disease is a lysosomal storage disorder.1 Lysosomes are responsible for breaking down carbohydrates and lipids.2 Gaucher disease is caused by mutations that disrupt the gene that controls the production of the glucocerebrosidase enzyme, resulting in an abnormal accumulation of glycolipids in the body.2,3 To date, more than 330 mutations have been identified.2,4,5

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Type 1 Gaucher disease affects both sexes, with males and females sharing an equal risk for this rare disease. Disease occurrence can vary based on ancestry and type.6

  • Approximately 1-9 in 100,000 people in the general population have type 1 Gaucher disease.7 
  • There are an estimated 6,000 individuals in the United States who have type 1 Gaucher disease.6
  • The potential prevalence of type 1 Gaucher disease is 1 in 600 in people of Ashkenazi Jewish ancestry.6,8
  • Gaucher disease is one of the most common genetic disorders in this population and has a carrier frequency of 1:17.9,10
  • Although more than 330 different mutations of the GBA gene have been identified, just four different mutations account for more than 90% of cases in the Ashkenazi Jewish population: N370S, 84GG, L444P, and IVS2+1G.2,4,5
INheritance and Genetics
Gaucher disease pedigree diagram

Inheritance and geneticsInheritance and genetics

Type 1 Gaucher disease is genetic and has an autosomal recessive inheritance pattern.6 This means people can be carriers of the genetic mutation without having the condition themselves. If both parents are carriers, there is a 50% chance of the child being a carrier, a 25% chance of them having the disease, and a 25% chance that the child will not be affected by the disease.6

Signs &

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Diagnosis &

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