I know that there are five types of them.
But I'm not sure..
So mind telling me more about the five of them in details?? Gaucher's disease is a sphingolipidosis resulting from glucocerebrosidase deficiency, causing deposition of glucocerebroside and related compounds. Symptoms and signs vary by type but are most commonly hepatosplenomegaly or CNS changes. Diagnosis is by enzyme analysis of WBCs. sorry i dont know This URL might be helpful to you Disorder Subdivisions
Type I Gaucher Disease
Type II Gaucher Disease
Type III Gaucher Disease
Norrbottnian Gaucher Disease
General Discussion
Gaucher disease is a rare, inherited metabolic disorder in which deficiency of the enzyme glucocerebrosidase results in the accumulation of harmful quantities of certain fats (lipids), specifically the glycolipid glucocerebroside, throughout the body especially within the bone marrow, spleen and liver. The symptoms and physical findings associated with Gaucher disease vary greatly from case to case. Some individuals will develop few or no symptoms (asymptomatic); others may have serious complications. Common symptoms associated with Gaucher disease include an abnormally enlarged liver and/or spleen (hepatosplenomegaly), low levels of circulating red blood cells (anemia), low levels of platelets(thrombocytopenia), and skeletal abnormalities. Platelets are blood cells that promote clotting and patients with thrombocytopenia may develop bleeding problems. Three separate forms of Gaucher disease have been identified and are distinguished by the absence of, or the presence and extent of, neurological complications. All three forms of Gaucher disease are inherited as autosomal recessive traits.
Gaucher disease is categorized as a lysosomal storage disorder. Lysosomes are the major digestive units in cells. Enzymes within lysosomes break down or "digest" nutrients, including certain complex carbohydrates and fats. In Gaucher disease certain fats, known as glycolipids, abnormally accumulate in the body because of the lack of the enzyme, glucocerebrosidase. This accumulation or "storage" of lipids leads to the various symptoms or physical findings associated with a lysosomal storage disease. Gaucher disease is the most common type of lysosomal storage disorder. Gaucher's disease is a rare, inherited disorder that causes too much of a substance called glucocerebroside to build up in your spleen, liver, lungs, bones and sometimes in your brain. The buildup prevents these organs from working properly.
There are three types:
Type 1, the most common form, causes liver and spleen enlargement, bone pain and broken bones, and, sometimes, lung and kidney problems. It does not involve the brain. It can occur at any age.
Type 2, which causes severe brain damage, appears in infants. Most children who have it die by age 2.
In type 3, there may be liver and spleen enlargement, and signs of brain involvement appear gradually.
Gaucher's disease has no cure.
Treatment options for types 1 and 3 include medicine and enzyme replacement therapy, which is usually very effective. There is no good treatment for the brain damage of type 2. |
