New Treatment Plans Give Hope to Gaucher Disease Patients By Katherine Van: Gaucher disease occurs in individuals because the body lacks the enzyme glucocerebrosidase, which is responsible for breaking down of fatty substances called glucocerebroside. As a result, Gaucher disease occurs when large amounts of fatty substances are present in the liver, spleen, lungs, bone marrow and brain which prevent the organs from functioning properly due to organ enlargement and bone pain . Therefore, the disease is also called glucocerebrosidase deficiency. Any age group can be diagnosed with this disease, but studies show that there is a higher percentage of the disease among Jews of Central and Eastern European origin. There are many types of Gaucher disease. The first form is called non-neuronopathic Gaucher disease because it does not affect or damage the central nervous system. The symptoms of the non-neuronopathic form described below were taken from . is another website that supports the symptoms listed below. • Thinning of bones • Extreme bone pain and bone fractures • Enlarged liver • Enlarged spleen • Low amounts of healthy red blood cells • Excessive fatigue • Vulnerability to bruises • Low amounts of platelets in the blood • Yellow spots in the eyes • Regular nosebleeds The second type of Gaucher disease is neuronopathic and can be life-threatening because it damages the central nervous system. Babies within three months of birth may be diagnosed with this form of Gaucher disease. Its symptoms are similar... half of the article ...... findings conducted on Gaucher disease will continue to bring hope to humans. References http://www.convertunits.com/info/dl http:/ /www.nlm.nih.gov/medlineplus/ency/article/003647.htm http://www.cancer.ca/en/cancer-information /cancer-type/childhood-cancer-information/supportive-care/symptom-and-side-effect-management/low-platelet-count/?region=nu http://www.lilly.com/products/patient-safety /providers-role/Pages/adverse-event.aspx http://www.drugs.com/monograph/cerezyme.html http://www.mayoclinic.org/diseases-conditions/gauchers-disease/basics/coping-support /con-20031396 http://ghr.nlm.nih.gov/condition/gaucher-disease http://www. shirecanada.com/en/default.aspx http://www.vpriv.com/about-vpriv/ http://clinicaltrials.gov/ct2/show/results/NCT00430625?term=gaucher+disease&rank=13§=X012http: //clinicaltrials.gov/ct2/show/NCT00364858?term=Gaucher%27s+Disease&rank=3
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