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Gaucher’s disease is a human metabolic disease. Other names for the disease are glucocerebrosidase deficiency, Gaucher splenomegaly, glucocerebrosidosis, or glucosyl cerebroside lipidosis. The disease is caused when someone lacks the enzyme called glucocerebrosidase. Though Gaucher’s disease is very rare, it most commonly occurs in people of Eastern and Central European Jewish heritage. It affects 1 in 500 to 1,000 people of Jewish decent, and very rarely in other backgrounds. It is an inherited disease in the autosomal recessive pattern. Both parents have to be carriers of the genetic mutation for their children to develop the disease (U.S National Library of Medicine). Gaucher’s disease is passed down from generation to generation. A person can get the disease if both of their parents carry a recessive copy of the gene. If someone only gets one recessive copy then that means that they are a carrier. A carrier has the capability of pass the disease on to their children though they do not have Gaucher’s disease. Gaucher’s disease (pronounced go-shayz) is a hereditary disease dealing with metabolism. It is known as a lysosomal storage deficiency. Mutations of the GBA gene cause Gaucher’s disease. The mutation causes toxic levels of glucocerebrosidase to build up within the cells. A person with the disease lacks the enzyme that gets rid of unwanted substances in the cell so the buildup becomes a problem. It occurs when the lipid, or fat, glucosylceramide accumulates to an unhealthy amount in certain organs in the body. These organs include the liver, lungs, spleen, and possibly the central nervous system or brain. People who have Gaucher’s disease don’t all experience the same symptoms. Usually the first symptom is an enlarged s... ...in Zavesca that helps patients. This is the only approved oral medication for patients with type 1 Gaucher’s disease. Zavesca is only for people who cannot get enzyme replacement therapy. This form of treatment may cause serious side effects. Side effects of Zavesca include diarrhea, weight loss, neurologic problems, and low platelet count. (ZAVESCAÂ ®) Gaucher’s disease was first described by a French medical student named Phillipe Charles Ernest Gaucher in 1882. Gaucher treated a woman whose spleen was enlarged. He later found that it was the cells that were swollen and not her spleen as a whole. Medical communities have continued to advance in understanding of the disease in the century. Doctors and scientists are working to fully understand Gaucher’s disease so that one day we can have a cure to save the many lives that have been lost to this metabolic disorder.