Gaucher's disease overview
|
Gaucher's disease Microchapters |
|
Diagnosis |
|---|
|
Treatment |
|
Case Studies |
|
Gaucher's disease overview On the Web |
|
American Roentgen Ray Society Images of Gaucher's disease overview |
|
Risk calculators and risk factors for Gaucher's disease overview |
Please help WikiDoc by adding more content here. It's easy! Click here to learn about editing.
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor-In-Chief: Cafer Zorkun, M.D., Ph.D. [2]
Overview
Gaucher's disease (pronounced goshay) is the most common of the lysosomal storage diseases. It is caused by a deficiency of the enzyme glucocerebrosidase, leading to an accumulation of its substrate, the fatty substance glucocerebroside (also known as glucosylceramide). Fatty material can collect in the spleen, liver, kidneys, lungs, brain and bone marrow. Symptoms may include enlarged spleen and liver, liver malfunction, skeletal disorders and bone lesions that may cause pain, severe neurologic complications, swelling of lymph nodes and (occasionally) adjacent joints, distended abdomen, a brownish tint to the skin, anemia, low blood platelets and yellow fatty deposits on the sclera. Persons affected most seriously may also be more susceptible to infection.