Gaucher disease (NORD): Year of the Zebra

The importance of having the right tools to complete a job cannot be understated. You cannot write well with a broken pencil. You cannot clean a house properly with a broken vacuum cleaner. Similarly, Gaucher Disease is a rare, inherited lysosomal storage disorder wherein the body lacks the correct amount of a specific enzyme, called glucocerebrosidase. The job of glucocerebrosidase is to break down a type of fat called glucocerebroside. In people with Gaucher Disease, this fat builds up in cells and certain organs, leading to a host of symptoms such as enlargement of the liver and/or spleen (hepatosplenomegaly), anemia, thrombocytopenia, and bone pain among others. There are three distinct forms of Gaucher disease separated by the absence (type 1) or presence and extent (type 2 or type 3) of neurological complications. Gaucher disease can now be diagnosed with a simple blood test and there are treatments available to improve patients’ lives. To learn more about the mechanisms and treatment of Gaucher Disease, watch the dedicated Osmosis video on YouTube and Osmosis.org