Norm of Beta-Glucosidase



Usage of Beta-Glucosidase

Screening for Gaucher's disease, a sphingolipid storage disease.


Description of Beta-Glucosidase

Beta-glucosidase deficiency is an autosomal recessive disease resulting in a gangliosidosis called “Gaucher's disease,” which is quickly fatal in infants but progresses more slowly in older children. Beta-glucosidase is an enzyme found in peripheral blood leukocytes that normally metabolizes the glycolipid glucocerebroside. In Gaucher's disease, glucocerebroside accumulates and causes splenomegaly, hepatomegaly, anemia, thrombocytopenia, erosion of long bones and pelvic bones, and mental retardation (in infantile form).


Professional Considerations of Beta-Glucosidase

Consent form NOT required.

  1. Tube: Green topped and container of ice.
  2. If the specimen must be sent to an outside laboratory for processing, notify the in-house laboratory that a specimen will be drawn.



  1. Draw a 7-mL blood sample.
  2. Place the specimen on ice.


Postprocedure Care

  1. Transport the specimen to the laboratory immediately.
  2. For transport to an outside laboratory, the specimen must be transported in an ice bath the same day.


Client and Family Teaching

  1. Results are normally available within 72 hours.


Factors That Affect Results

  1. Results are invalid for specimens not placed on ice.


Other Data

  1. Anemia can be severe enough to cause respiratory difficulty.
  2. Enzyme infusion therapy is recommended treatment in type 3 Gaucher's disease.