Gaucher Disease (aka Beta-glucosidase deficiency, β-glucosidase deficiency)
EDTA blood sample used to make a blood spot card in the laboratory. Sample cannot be shared for other tests.
1 – 5 nmol/mg/hr
Gaucher disease (β-glucosidase deficiency) is a rare, inherited metabolic disorder in which deficiency of the enzyme glucocerebrosidase results in the accumulation of harmful quantities of certain fats, specifically the glycolipid glucocerebroside, throughout the body but especially within the bone marrow, spleen and liver. The symptoms and physical findings associated with Gaucher disease vary greatly from patient to patient. Some individuals are asymptomatic; others may have serious complications. Gaucher disease is caused by changes (mutations) in the GBA gene.
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 affects approximately 1 in 100,000 people in the general population, and 1 in 855 people in the Ashkenazi Jewish community.
Cannot be added on to an existing request