What is Gaucher disease

What is Gaucher disease?

Gaucher (pronounced go-SHAY) disease is a rare, inherited condition, where a person’s cells do not produce enough of a specific enzyme.³

But what is it exactly? It’s a lysosomal storage disorder that is inherited from a person’s parent.³

Among the general population Gaucher disease occurs in roughly one in 50,000 to one in 100,000 people. In people of Ashkenazi Jewish heritage, it occurs in roughly one in 600 people.^2,5

Lysosomes are parts of our cells that make enzymes. These enzymes are needed by our bodies to break down nutrients and waste in order for our cells and organs to work properly. And when someone has a lysosomal storage condition, like Gaucher disease, the cells that make a certain enzyme don’t work as they’re supposed to.^2,3

In a person with Gaucher disease, cells do not produce enough of an enzyme called glucocerebrosidase (pronounced GLOO-ko-SER-e-bro-sy-daze). This enzyme is needed to break down a fatty substance called glucocerebroside. Without enough of this essential enzyme, the fatty substance builds up in some cells, enlarging them. These enlarged cells are called Gaucher cells.^2,3,4

Over time, Gaucher cells collect in various organs, causing the signs and symptoms of Gaucher disease.^2,3

What is Gaucher disease?

Among the general population Gaucher disease occurs in roughly one in 50,000 to one in 100,000 people. In people of Ashkenazi Jewish heritage, it occurs in roughly one in 600 people.2,5

Among the general population Gaucher disease occurs in roughly one in 50,000 to one in 100,000 people. In people of Ashkenazi Jewish heritage, it occurs in roughly one in 600 people.^2,5