Gaucher Disease: Difference between revisions
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== Definition/Description == | == Definition/Description == | ||
An autosomal recessive inherited genetic disorder of metabolism in which a dangerous level of a fatty substance called glucocerebroside collects in the liver, spleen, bone marrow, lungs, and at times in the brain. Gaucher disease is caused by mutations in a gene called GBA. Changes in the GBA gene cause low levels of glucocerebrosidase.<sup>3</sup> An individual with this disorder inherits a mutated copy of the GBA gene from each of his or her parents. Signs and symptoms of this disease can vary broadly among individuals and types.<sup>1 </sup><br> | |||
== Prevalence == | == Prevalence == | ||
Revision as of 21:50, 3 April 2011
Original Editors - Sarah Ansburg from Bellarmine University's Pathophysiology of Complex Patient Problems project.
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Definition/Description[edit | edit source]
An autosomal recessive inherited genetic disorder of metabolism in which a dangerous level of a fatty substance called glucocerebroside collects in the liver, spleen, bone marrow, lungs, and at times in the brain. Gaucher disease is caused by mutations in a gene called GBA. Changes in the GBA gene cause low levels of glucocerebrosidase.3 An individual with this disorder inherits a mutated copy of the GBA gene from each of his or her parents. Signs and symptoms of this disease can vary broadly among individuals and types.1
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