History

Gaucher disease is named after the French physician Philippe Charles Ernest Gaucher, who first described this disease in 1882 in a 32-year-old person whose liver and spleen were enlarged. In 1924, the German physician H. Lieb isolated a particular fatty compound from the spleens of people with Gaucher disease. Ten years later, the French physician A. Aghion identified this compound as glucocerebroside. Glucocerebroside is a component of the cell membranes of red and white blood cells. In 1965, the American physician Roscoe O. Brady and coworkers demonstrated that the accumulation of glucocerebroside results from a deficiency of the enzyme glucocerebrosidase. Dr. Brady's research provided the basis for developing enzyme replacement therapy, using glucocerebrosidase to replace the missing enzyme in Gaucher patients.

It is an autosomal recessive disease. This means that an affected child would inherit two abnormal copies of the enzyme, one from the mother and one from the father. The parents would are known as "carriers" since they do not manifest the disease, but silently harbor one abnormal copy of the gene.

A Child's DNA Helix
Graphic Design: Paul Theissan

There are three forms of Gaucher Disease, Types 1, 2, and 3, that are recognized. They are classified by age of onset (infantile, juvenile, adult) and the presence or absence of central nervous system involvement.