MEDICAL DICTIONARY
Deficiency, glucocerebrosidase: Causes type 1 Gaucher disease , a progressive genetic disease due to an enzyme defect. The enzyme, glucocerebrosidase, is needed to break down the chemical glucocerebroside. The enzyme defect leads to the progressive accumulation of glucocerebroside in the spleen , liver , and lymph nodes . Gaucher disease is the most common genetic disease in Ashkenazi Jews (those of European origin) and in American and Canadian Jews.
The most common early sign of the disease is enlargement of the spleen (located in the upper left abdomen ). Other common signs include anemia , a decrease in blood platelets (clotting cells), increased pigmentation of the skin, and a yellow fatty spot on the white of the eye (called a pinguecula ). Severe bone involvement can lead to pain and collapse of the bone of the hips, shoulders, and spine.
The gene for Gaucher disease (GD) is on chromosome 1. The disease is a recessive trait . Both parents carry the GD gene and transmit it for their child with the disease. The risk for the parents having a child with the disease is 1 in 4 with each pregnancy.
Type 1 Gaucher disease is known alternatively as noncerebral juvenile Gaucher disease or glucocerebrosidase deficiency . For an article about this condition, see Gaucher Disease .
|
DISCLAIMER:
Information on this site is provided for informational
purposes and is not meant to substitute for the advice
provided by your own physician or other medical professional.
You should not use the information contained herein
for diagnosing or treating a health problem or disease,
or prescribing any medication. You should read carefully
all product packaging. Not all Canadian drugs, Canada
prescription and Canadian prescription medicine is available
at discount Canadian on line pharmacies. If you have
or suspect that you have a medical problem, promptly
contact your health care provider. Information and statements
regarding diet supplements have not been evaluated by
Health Canada and are not intended to diagnose, treat,
cure, or prevent any disease. All trade and service
marks mentioned on this site are recognized as belonging
to their respective owners.
|
|
|
|
