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Gaucher's disease is a genetic disorder that leads to a lack of the enzyme glucocerebrosidase. This deficiency leads to the fatty substance glucocerebroside accumulating in important tissues and organs.
Gaucher’s disease is divided into three main forms which are grouped as follows:
Although there is no cure for Gaucher’s disease, it can be treated with enzyme replacement therapy, which can help improve symptoms and prevent irreversible damage. The deficient enzyme is replaced with an artificial enzyme which is administered intravenously every two weeks.
One example is Cerezyme. At first, patients need to be given the treatment in hospital, but the therapy can eventually be managed at home. Some of the adverse effects of this drug include itching, burning, rashes and swelling at the site of injection, allergic reactions after injection, nausea, diarrhea, abdominal pain, fever, chills, dizziness, headache, backache and palpitations.
Another therapy that is available is substrate reduction therapy, which interrupts the production of glucocerebroside precursors, therefore preventing the build-up of this fatty substance in cells. An example of this form of therapy is Zavesca (miglustat), which may be used to treat mild to moderate Gaucher’s disease in cases that are not responsive to enzyme replacement therapy. Some of the common side effects associated with miglustat include abdominal upset, nausea, vomiting, diarrhea, flatulence, weight loss, headache and dizziness.