Gaucher Disease is an inherited metabolic disorder characterized by the buildup of harmful amounts of certain fats (lipids), specifically the glycolipid glucocerebroside, throughout the body, most notably in the bone marrow, spleen, and liver. It’s one of the most common Lysosomal Storage Disease in Malaysia and Singapore with 3 occurrences in every 1 000 000 births. Symptoms Gaucher disease symptoms and physical findings differ greatly between patients. Some people have few or no symptoms (asymptomatic), while others may have serious complications. Common symptoms include an abnormally enlarged liver and/or spleen (hepatosplenomegaly), low levels of circulating red blood cells (anemia), low […]
