Gaucher's Disease Research Paper

Gaucher’s disease is a rare genetic disorder in which when a person lacks of enzyme called glucocerebrosidase. The genes that are involved are GBA(glucosidase, beta, acid) genes. The GBA genes are the ones that provide instructions for making enzyme which is called beta-glcocerebrosidase. There are 4 types of Gaucher’s disease. Type 1 Gaucher’s disease is the most common form of this condition. Type 1 Gaucher’s disease doesn’t really affect the brain or the spinal cord (central nervous system) that’s why it’s also called non-neuropathic. Type 2 Gaucher’s disease is neuropathic it affects the central nervous system. This disease causes life threating medical problems in the start of nativity. Type 3 Gaucher’s disease also affects the nervous …show more content…
This condition arrays from mild to critical and may appear through childhood to adulthood. The symptoms of Gaucher’s disease type 2 and 3 are the same as the symptoms that type 1 the only difference is that type 2 and 3 affects the central nervous system and type 1 doesn’t but in addition to the symptoms mentioned these conditions can cause abnormal eye movement , seizures , and brain damage. Type 2 Gaucher’s disease usually origins life threating medical problems in the beginning of babyhood. Type 3 Gaucher’s disease affects the central nervous system but it worsens slowly more than type 2. The most critical type of Gaucher’s disease perinatal lethal which causes life threating problems starting before nativity or in infancy. The symptoms of this disease are extensive swelling caused by fluid accumulation before nativity ( hydrops fetails) , dry scaly skin or other skin abnormalities hepatosplenomegaly; distinctive facial features; serious nuerological …show more content…
It causes anemia in which there’s a small quantity of blood cells. You can get bruised easily because of the decrease of blood in your platelets (thrombocytopenia). You may also get lung disease. In lung disease you have hard time breathing because the air gets trapped in your lungs in former (COPD) etc. You get bone pain and fractures you may also get arthritis. You get joint pain and stiffness from arthritis. With Gaucher’s disease type 1 there is treatment. There’s no life threatening risk if you get the treatment on time. Gaucher’s disease type 2 is fatal there’s no treatment available. With Gaucher’s disease type 3 there is treatment. If the treatment is not taken on time then that leads to death with a few years. In conclusion there are many types of Gaucher’s disease. You could get treatment depending on what type of Gaucher’s disease you have. Mutation in GBA genes causes the symptoms of Gaucher’s disease. Now there’s treatment for Gaucher’s disease you can get cured depending on what type you have. If you don’t get the treatment on time you run the risk of death. This disease affects you in many ways depending on what type of Gaucher’s disease you