Glossary

Ashkenazi Jewish heritage

People of Jewish heritage whose families came from Central and Eastern Europe.

Bone marrow biopsy

A test where a sample of a person’s bone marrow is analysed. This technique helps rule out other serious conditions.

Enzyme

A chemical substance that helps processes in the body. One of these processes breaks down nutrients and waste in the body to help keep our cells and organs working properly. In Gaucher disease, the body fails to make enough of the enzyme glucocerebrosidase to break down a fatty substance called glucocerebroside, which builds up in cells and enlarges them.

Enzyme replacement therapy (ERT)

A type of medical treatment where a person receives an enzyme their body does not produce enough of, usually by drip (infusion) into a vein.

Enzyme testing

Enzyme testing measures glucocerebrosidase activity in the blood or urine.

Gaucher cells

Gaucher cells are cells made larger by too much of the fatty substance glucocerebroside due to a lack of the enzyme glucocerebrosidase. These Gaucher cells are characteristic of Gaucher disease.

Gaucher disease

It is the most common disease in a family of rare diseases called lysosomal storage disorders. It is known to cause changes in the blood (anaemia and low platelet count) and to enlarge a person’s liver and spleen, as well as cause other symptoms, because of a buildup of Gaucher cells in organs.

Genes

Genes determine traits you inherit from your ancestors. You get a mix from both of your parents. Genes can determine physical features, like hair and eye colour. They can also determine whether you have certain inheritable disorders, such as Gaucher disease.

Genetic testing

Genetic testing helps determine if a person carries the disease and what type of Gaucher disease they may have.

Glucocerebrosidase

An enzyme that breaks down the fatty substance glucocerebroside into glucose and ceramide. Patients with Gaucher disease do not produce enough of this enzyme.

Glucocerebroside

This lipid (fatty substance) builds up in cells of people with Gaucher disease. It is normally broken down by the enzyme glucocerebrosidase.

Haemoglobin

Haemoglobin is the part of your red blood cells that transports oxygen in the body.

Lysosomal storage disorder

A type of genetic disease that causes a person to not produce enough of a specific enzyme in their lysosomes (small compartment inside each cell).

Lysosome

A small compartment inside a person’s cells that creates the enzymes that break down nutrients and waste in the body.

Macrophage

An immune system cell that destroys foreign substances, like bacteria and viruses.

Platelets

Platelets are the parts of a person’s blood that help with clotting in wounds. People whose bodies don’t make enough platelets—such as those with Gaucher disease—may have trouble clotting and can bleed excessively when injured, or bruise more easily.