Gaucher DiseaseColleen CarterUniversity of New Hampshire at

Gaucher disease is an autosomal, recessive inherited disorder of metabolism, in which a type of lipid called glucocerebroside cannot be properly broken down. When this lipid builds up, it affects the liver, spleen, bone marrow and even nervous system. This disease, also referred to as glucocerebrosidase deficiency (GD), affects 1 in 50,000 to 1 in 100,000 of the general population (8).
Typical symptoms include:
  • Enlargement of liver and spleen [hepatosplenomegaly]
  • Low red blood cell count [anemia]
  • Easy bruising due to low platelet levels [thromobocytopenia]
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  • Bone disease such as pain and fractures

Other symptoms specific to type of the disease:
  • Heart, lung and nervous system issues
  • Problems in vision
  • Seizures
  • Brain damage

Fortunately, discoveries in the 1960's have been able to pinpoint the enzyme responsible for the disease. Although the mutations in the gene cannot be altered for immediate treatment, there is enzyme replacement therapy that can reverse some symptoms (7).

In an effort to understand the genetics for each type of the disease, the gene and it's mutation must be looked into further in hope for prevention, treatment or cure.

What gene is responsible??>>