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Gaucher disease is the most common lysosomal storage disease. It was named for the French physician Phillipe Gaucher who first described it in 1882. The disease is caused by a lack of glucocerebrosidase, which causes a buildup of glucocerebroside in the tissues.
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What is a genetic disorder caused by enzymatic malfunctions?
Gauchers Disease
What are the causes of gauchers disease?
Gaucher disease is caused by a genetic defect in an enzyme called glucocerebroside. There are four different types of this disease. For more information about Gaucher disease visit Answers.com
How does a person receive the gauchers disease?
Gaucher's disease is an inherited genetic disorder caused by mutations in the GBA gene. A person inherits this mutation from both parents in an autosomal recessive manner. It results in the build-up of a fatty substance called glucocerebroside in cells, affecting the organs and tissues.
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