≡International Gaucher Disease Day is celebrated on October 1st
International Gaucher Disease Day is celebrated on October 1st . The day was created to raise awareness about Gaucher disease, a rare genetic condition that affects the metabolism. It occurs when there is a deficiency of an enzyme called glucocerebrosidase, which causes harmful substances to build up in organs such as the liver, spleen, bones and nervous system. There are three main types of the disease, which vary in severity and symptoms. Some of the signs include fatigue, anemia, enlarged spleen and liver, bone pain and fractures. Treatment may include enzyme replacement therapy or other medications that help control the progression of the disease. The goal of International Gaucher Disease Day is to inform the public, promote early diagnosis, support patients and stimulate scientific research into more effective treatments.
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