Gaucher disease is a metabolic disorder marked by the build-up of a fat molecule called glucocerebroside in various tissues and organs, because of the deficiency of an enzyme called beta-glucocerebrosidase.
The beta-glucocerebrosidase enzyme
The instructions necessary to make the beta-glucocerebrosidase enzyme are stored in the GBA gene found on chromosome 1. Mutations in the GBA gene affect the production and activity of the enzyme, leading to the insufficient breakdown of glucocerebroside, causing the symptoms of Gaucher disease.
Determining beta-glucocerebrosidase activity levels in the blood is a good way of diagnosing Gaucher disease.
The beta-glucosidase leukocyte (BGL) test
The BGL test is used to determine the level of beta-glucocerebrosidase activity in the blood. A small amount of blood is collected from the patient and tested in a laboratory. A hospital stay is not needed, and no special preparation is required for the test. The results typically become available in 8–15 days.
Beta-glucocerebrosidase activity levels of less than 8.7 nmol/h/mg protein are considered positive for Gaucher disease.
The BGL test cannot determine carrier status because enzyme levels are sometimes similar in people with Gaucher disease and those who are carriers of the disease. A Gaucher disease carrier is a person who has one defective copy of the GBA gene. They do not develop the disease but have a risk of passing it on to their children. A person develops Gaucher disease only if they have two faulty copies of the GBA gene, one inherited from each parent. Genetic testing to identify mutations in the GBA gene are much more accurate and reliable and is recommended in such instances.
Blood draw for the BGL test is usually simple but in some rare instances, it may cause some complications, such as infection and bleeding.
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