Gaucher's Disease or Gaucher Disease (GD)-- is a genetic disorder in which glucocerebroside (a sphingolipid, also known as glucosylceramide) accumulates in cells and certain organs. The disorder is characterized by bruising, fatigue, anemia, low blood platelet count and enlargement of the liver and spleen, and is caused by a hereditary deficiency of the enzyme glucocerebrosidase (also known as glucosylceramidase), which acts on glucocerebroside.
Gaucher's disease /ɡoʊˈʃeɪz/ 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.
Raynaud's Resource Page - Raynaud's is an autoimmune condition that causes an interruption of blood flow to the fingers, toes, nose and/or ears when a spasm occurs in the blood vessels of these areas. Spasms are caused by exposure to cold temperatures or emotional stress. Approximately 5-10 percent of all Americans suffer from Raynaud's, but only one out of five sufferers seeks treatment. Both men and women suffer from the disease, but women are nine times more likely to be affected.
Read about how Increased Iron Levels May Augment the Risk of Cancer and Neurological Diseases in Gaucher Disease Patients
A clinical and biochemical geneticist, Dr. Staci Kallish is an assistant professor of clinical medicine in the division of Translational Medicine and Human Genetics at the Perelman School of Medicine at the University of Pennsylvania in Philadelphia, who sees patients with Gaucher disease and other rare diseases. Kallish participates in the International Gaucher Disease Registry, which is funded by Genzyme.