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More about Gaucher Disease:
Definition Causes and symptoms Diagnosis Treatment Prognosis Prevention Resources |
Lack of the GC enzyme is caused by a mutation in the glucocerebrosidase gene. The gene is located on chromosome 1. As of 2000, there have been over 100 mutations described in this gene that causes Gaucher disease. Gaucher disease is inherited in an autosomal recessive pattern. This means that two defective gene copies must be inherited, one from each parent, for the disease to manifest itself. Persons with only one gene mutation are carriers for the disorder. A person who is a carrier for Gaucher disease does not have any symptoms and does not know he or she is a carrier unless he or she has had specific testing. When both parents are carriers for Gaucher disease, there is a one in four chance (25%) in each pregnancy for a child to have Gaucher disease. There is a two in three chance that a healthy sibling of an affected child is a carrier.
The results of Gaucher disease are widespread in the body and include excessive growth of the liver and spleen (hepatosplenomegaly), weakening of bones, and, in acute cases, severe nervous system damage. Many patients experience "bone crises," which are episodes of extreme pain in their bones.
There is a wide array of other problems that occur with Gaucher disease, such as anemia (fewer than normal red blood cells). Just how these other symptoms are caused is not known. Nor is it known why some patients have very mild disease and others have much more significant problems. Even identical twins with the disease can have differing symptoms.
— Amy Vance
