Welcome to Gaucher’s Chat
Welcome to Gaucher’s Chat, the Gaucher’s Disease support network for people with Gaucher’s Disease and their families. Our site is open to anyone with Gaucher’s Disease, family members and friends of people with Gaucher’s Disease. People of all ages may join. Here you can find one on one support from people just like you. We offer a sanctuary where you can feel comfortable to communicate openly about having Gaucher’s Disease, get answers to your questions, and meet people like yourself. We welcome you with open arms. We welcome physicians, nurses, and all medical staff to join and help support the Gaucher community. We offer links to main support sites where you can get assistance with insurance or financial needs, join the Gaucher registry, find information about Gaucher’s Disease treatment options, and much more. We also welcome your feedback and knowledge. If you have information you would like to see added to our support network, just contact us. Membership is free so apply for an account today!
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Gaucher's disease (pronounced gō-shāyz) is a genetic disease in which a fatty substance (lipid) accumulates in cells and certain organs. Gaucher's disease is the most common of the lysosomal storage diseases. It is a form of sphingolipidosis (a subgroup of lysosomal storage diseases), as it involves dysfunctional metabolism of sphingolipids. The disorder is characterized by bruising, fatigue, anemia, low blood platelets, and enlargement of the liver and spleen. It is caused by a hereditary deficiency of the enzyme glucocerebrosidase. The enzyme acts on the fatty acid glucosylceramide. When the enzyme is defective, glucosylceramide accumulates, particularly in white blood cells, most often macrophages (mononuclear leukocytes). Glucosylceramide can collect in the spleen, liver, kidneys, lungs, brain and bone marrow.Wikipedia