Gaucher's disease overview: Difference between revisions
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==Overview== | ==Overview== | ||
'''Gaucher's disease''' (pronounced | '''Gaucher's disease''' (pronounced goshay) is the most common of the [[lysosomal storage disease]]s. It is caused by a deficiency of the enzyme [[glucocerebrosidase]], leading to an accumulation of its substrate, the fatty substance [[cerebroside|glucocerebroside]] (also known as [[glucosylceramide]]). Fatty material can collect in the [[spleen]], liver, [[kidney]]s, [[lung]]s, [[brain]] and bone marrow. Symptoms may include enlarged spleen and liver, liver malfunction, [[List of skeletal disorders|skeletal disorders]] and bone lesions that may cause pain, severe [[Neurology|neurologic]] complications, swelling of [[lymph node]]s and (occasionally) adjacent joints, distended abdomen, a brownish tint to the skin, [[anemia]], low blood [[platelet]]s and yellow fatty deposits on the [[sclera]]. Persons affected most seriously may also be more susceptible to infection. | ||
==References== | ==References== | ||
Latest revision as of 18:10, 12 October 2015
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Gaucher's disease overview On the Web |
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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.