Gaucher Disease

Gaucher Disease

•  Gaucher Disease has no specific symptoms as it varies greatly among those who have the disorder. However, it is typically seen with an enlargement of the liver and spleen, a low number of red blood cells, easy bruising, and bone disease. There can also be defections within the heart, lung and nervous systems.
• Gaucher disease is caused by mutations in the gene GBA. The mutations cause very low levels of glucocerebrosidase which is a normal part of the cell membrane. Essentially, this lipid that is part of the cell membrane will build up in the liver, spleen and bone marrow. This buildup interferes with normal functioning (“Gaucher” 1).
• This is a very manageable genetic disorder. There is enzyme replacement therapy for the effective treatment for those who have this disorder. This treatment helps to reverse the symptoms of Gaucher disease. Other alternatives include oral treatments as well.
• The only way to have this genetic disorder is if both of the parents have a mutated copy of the GBA gene originally (“Gaucher” 1).