Description:Gaucher disease Type 1 is the most prevalent Jewish genetic disease, occurring in one in every 1,000 Ashkenazi Jews. Gaucher Type 1 disease is an inherited disorder in which the body cannot break down a lipid called glucocerebroside.
Symptoms:Symptoms range from mild to severe and can appear at any time, from infancy to old age. Gaucher symptons may include anemia, fatigue, easy bruising and a tendency to bleed. An enlarged spleen and liver may also occur in Gaucher disease as well as bone pain, degeneration and fractures. Bone disease may lead to neurologic problems such as compression of the spinal cord. Brown spots at the edges of the cornea (the front surface of the eye) are also a feature of type 1 Gaucher disease.
Cause:
Gaucher Type 1 disease is inherited in an autosomal recessive pattern, which means two copies of the gene must be altered for a person to be affected by the disorder. Mutation of the GBA gene leads to deficiency of an enzyme, glucocerebrosidase, which is needed to break down a lipid called glucocerebroside. This fatty substance then accumulates in "Gaucher cells" which are found particularly in the liver, spleen, and bone marrow. Damage in these organs cause the symptoms of the disease.
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