genetic disease that causes an accumulation of fats in storage cells as a result of a lack of enzyme activity in breaking down molecules composed of sugar and fats
Gaucher's disease (pronounced ) 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. The disease shows
autosomal recessive inheritance and therefore affects both males and females. It is
named after the French doctor
Philippe Gaucher who originally described it in 1882.
See more at Wikipedia.org...
Free Download Now!
