Gaucher disease - Information - Cause - Symptoms - Treatment Options
Gaucher disease
Gaucher disease is an inherited deficiency of the enzyme -glucosidase, which results in the buildup of a toxic substance (glucosylceramide) in different parts of the body, such as the spleen, liver, and bones. It is the most common type of a group of diseases known as lysosomal storage diseases. Lysosomes are cell compartments in which substances are broken down by specific enzymes.
Gaucher cell, photomicrograph (Image)
Gaucher's disease is called a "lipid storage disease" where abnormal amounts of lipids are stored in special cells called reticuloendothelial cells. Classically, the nucleus is pushed off to the side and the remainder of the cell is filled with abnormal lipids.
Gaucher cell, photomicrograph (Image #2)
Gaucher's disease is called a "lipid storage disease" where abnormal amounts of lipids called "glycosphingolipids" are stored in special cells called reticuloendothelial cells. Classically, the nucleus is pushed off to the side and the remainder of the cell is filled with abnormal lipids.
Hepatosplenomegaly (Image)
Liver and spleen enlargement (hepatosplenomegaly) can occur as the result of an inherited disorder in which the liver cannot process glucocerebroside. The buildup of this substance in body tissues can cause severe damage to the central nervous system in infants
Bone marrow aspiration (Image)
A small amount of bone marrow is removed during a bone marrow aspiration. The procedure is uncomfortable, but can be tolerated by both children and adults. The marrow can be studied to determine the cause of anemia, the presence of leukemia or other malignancy, or the presence of some "storage diseases" in which abnormal metabolic products are stored in certain bone marrow cells.
NINDS Gaucher's Disease Information Page
Gaucher disease is an inherited metabolic disorder in which harmful quantities of a fatty substance called glucocerebroside accumulate in the spleen, liver, lungs, bone marrow, and, in rare cases, the brain. Three clinical forms (phenotypes) of Gaucher disease are commonly recognized, from the National Institute of Neurological Disorders and Stroke.
The National Gaucher Foundation (NGF)
The National Gaucher Foundation (NGF) is dedicated to supporting and promoting research into the causes of, and a cure for Gaucher Disease. The mission of the NGF is to find a cure for Gaucher Disease by funding vital research programs, to meet the ever-increasing needs of patients and families, as well as to promote community/physician awareness and educational programs.
