As with all medical conditions, there may be many causal factors. Further relevant information on causes of Gaucher disease type 3 may be found in:
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Gaucher’s disease results from an autosomal recessive inheritance, which causes decreased activity of the enzyme glucocerebrosidase. Glucocerebrosidase deficiency leads to an accumulation of glucosylceramide in the storage compartments (lysosomes) of certain body cells. Glucosylceramide buildup occurs in the liver, spleen, bones, and bone marrow, eventually leading to decreased production of red blood cells (anemia) and thinning of the bones (osteopenia).
There are three forms of Gaucher’s disease, classified by age of onset and the presence or absence of neurologic involvement. Type I, characterized by lack of neurologic involvement, is the most common form affecting both children and adults and is most prevalent in the Ashkenazi Jewish population, affecting anywhere from 1 of 500 to 1,000 births. Type II usually presents in infancy with severe neurologic involvement, resulting in seizures and central nervous system damage. Type II also presents with spleen and bone marrow damage. Type III typically has mild neurologic involvement and runs a slower, more favorable course. The incidence of Types II and III is 1 of 50,000 to 100,000 births. The juvenile form can begin in childhood, typically in the teenage years, and cause spleen, bone marrow, and neurologic damage.
Source: Professional Guide to Diseases (Eighth Edition), 2005
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