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Health Care Professionals Gaucher disease is an inherited, autosomal recessive, progressive disorder that represents a potentially serious health problem. It is the most common lysosomal storage disorder. Because some of the signs and symptoms associated with Gaucher are similar to those of other, more common diseases (i.e. leukemia, lymphoma), the definitive diagnosis is often considerably delayed. This website is designed to help the health care professional learn more about Gaucher disease. It includes helpful information on signs and symptoms of Gaucher disease, diagnostic challenges, and links to valuable resources for health care professional sharing with patients and families. |
 Did you know... Doctors diagnose Gaucher disease by using a simple blood test called an enzyme assay. The assay for Gaucher disease measures activity levels of the enzyme glucocerebrosidase in white blood cells or skin cells. Individuals who are affected with Gaucher disease will have very low levels of enzyme activity. However, the assay cannot determine disease severity. Learn more in Diagnosing and Testing >>  Did you know... For more than a decade, the Gaucher Registry has been a global resource to the medical and patient communities, helping to improve outcomes in patients with Gaucher disease. Learn more about participating in the Gaucher Registry>>  Genzyme USA |
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