Gaucher disease is an abnormality fat of storage in three divisions of the brain stem. It is an increasingly genetic and a very rare disorder that is most common in family members. The people who suffer the most, have consequences in the lack of of levels of a certain enzyme in the body. Because of this, a fatty lipid spreads throughout one’s human body. This disease is also known to be called lysosomal storage disorder. This type of disorder can cause symptoms to happen at any time of your life, whether it is childhood or adulthood. How can you get this disease? You can get it from parents who struggle with the cells in their body. “Gaucher disease can only develop when a person inherits 2 abnormal copies of the gene responsible for producing
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Among Jews of Ashkenazi (Eastern European) descent, the incidence is higher: up to 1 in 850 people. The higher frequency of Gaucher disease among this population has led to the misconception that Gaucher disease is a "Jewish genetic disease,” but in fact, individuals of any ethnic or racial background may be affected (Gaucher Care 1). As you can see, the gender that is most affected with this disease is the Jewish population. From there, it can spread to other groups of people.
There are three types of Gaucher disease. The most common symptoms for the first disease includes increased spleen size, increased liver size, low hemoglobin level, and low platelet count. Type one Gaucher disease is the most common form to get. This form of disease can vary from mild to very extreme depending on the cause of the situation and the type of person they …show more content…
Type 2 Gaucher disease affects the central nervous system, as well as the liver, and spleen throughout the body. “Formerly called infantile Gaucher disease, it is characterised by severe neurological (brain) involvement in the first year of life. It is also called acute neuronopathic Gaucher disease. Fewer than 1 in 100,000 newborn babies have Type 2 disease and this form of the disease shows no ethnic predilection. Babies usually appear normal at birth but develop symptoms by the age of 3 to 6 months (Gaucher Association 1).” The systems for type 2 includes poor development, seizures, spasticity, the ability to not swallow and suck on things edible, and an enlarged liver and spleen. Type two is shown about six months when you are born.
Among Jews of Ashkenazi (Eastern European) descent, the incidence is higher: up to 1 in 850 people. The higher frequency of Gaucher disease among this population has led to the misconception that Gaucher disease is a "Jewish genetic disease,” but in fact, individuals of any ethnic or racial background may be affected (Gaucher Care 1). As you can see, the gender that is most affected with this disease is the Jewish population. From there, it can spread to other groups of people.
There are three types of Gaucher disease. The most common symptoms for the first disease includes increased spleen size, increased liver size, low hemoglobin level, and low platelet count. Type one Gaucher disease is the most common form to get. This form of disease can vary from mild to very extreme depending on the cause of the situation and the type of person they …show more content…
Type 2 Gaucher disease affects the central nervous system, as well as the liver, and spleen throughout the body. “Formerly called infantile Gaucher disease, it is characterised by severe neurological (brain) involvement in the first year of life. It is also called acute neuronopathic Gaucher disease. Fewer than 1 in 100,000 newborn babies have Type 2 disease and this form of the disease shows no ethnic predilection. Babies usually appear normal at birth but develop symptoms by the age of 3 to 6 months (Gaucher Association 1).” The systems for type 2 includes poor development, seizures, spasticity, the ability to not swallow and suck on things edible, and an enlarged liver and spleen. Type two is shown about six months when you are born.