Gaucher's

Gaucher's disease is a molecular hereditary condition where a lipid builds in cells and specific organs. It is the most frequently occurring of what are called the lysosomal storage diseases. The disease is named after the French doctor Philippe Gaucher, who originally described it in 1882. The lysosome converts unwanted material into substances that a given cell can utilize. This can occur through the body’s use of enzymes, functional proteins.

Lysosomal disorders happen when a particular enzyme exists in too small an amount or is missing altogether. When this happens, substances accumulate in the cell. In other words, when the lysosome doesn’t function normally, excess products destined for breakdown and recycling are stored in the cell. The condition is caused by a lack of glucocerebrosidase (too small an amount or missing altogether) and can be passed on from parent to child.

Symptoms may include an oversized spleen and liver, lack of function of the liver or other organs, problems with the skeletal system. This could result in bone lesions that may be or distressing brain-related complications, increasing size of lymph nodes or anemia, Those who are affected most seriously by Gaucher’s may also be more susceptible to infection. Some forms of Gaucher's disease may be treated with enzyme replacement therapy. About 1 in 100 people in the United States are carriers of the most common type of Gaucher disease. Type 1 Gaucher Disease occurs worldwide in all populations, but is most prevalent in the Ashkenazi Jewish population (the Jews of Eastern European ancestry). Within this population, Type 1 Gaucher Disease occurs at a rate of 1 in 450 live births, and is the most common genetically-based disease affecting Jewish people.