Gaucher Disease


What is Gaucher Disease?

......Gaucher Diease is an inheireted autosomal disease in which the fat or lipid glucocerebroside cannot not be handled correctly by the body and begins to build up. The body normally handles the lipid with a special enzyme called glucocerebrosidase(yes its different than the above)
that breaks down the lipid but in the case of Gaucher Dsease this enzyme is not present.Without this enzyme the lipid builds up
specificly in the spleen, bone marrow, liver and nervous system causing problems with normal body workings. Geneticlly the gene for
the enyme that handles the fat is dominant and only one gene for it is needed, you will only have Gaucher Disease if you get two
genes, one from your mom and one from your dad that have the recessive trait for Gaucher Disease. There are three types of Gaucher Disease Type 1,2 and 3 each of which with their similarities and differences.

Type 1 appears in early life and does not do any damage to the nervous system.
Type 2 is the most dangerous and occurs while still a baby.
Type 3 is like Type 2 but slower to have any affects.

Also Gaucher Disease affects about 1 in 50000 people. Another quick note would be that for Type 1 Gaucher Disease those of Ashkenazi Jewish decent are more susceptible to the disease with 1/14 actually having the disease and more being carriers.

How do I know if i have Gaucher disease or carry the gene for it?

....There are several symptoms of Gaucher Disease that can be used to identify the diseas;external image mtd_hem_chart02_lg.gif

  • Low level of red blood cells.
  • Larger sized liver and/or spleen.
  • Common bruising(although this in itself does not prove you have Gauchers Disease)
  • Weakness in the bones.
  • In some type two and three cases, nervous system problems.

If you have any these symptoms you may have Gaucher Disease and should have a blood test done to check for it. As for being a carrier with one gene for having the disease is hard to tell without a blood test.


Is there any treatment for Gaucher Disease?

You can get shots of the enzyme into your system every two weeks which effectivly reverse the symptoms. Also you can have special surgery such as spleen removal done to ease the symptoms.

What does it take to have a child with Gaucher Disease?

...To have a child with Gaucher Disease the child needs to inheiret two alleles for the disease each from either parent. This means that the gene for Gaucher Disease is a mutated homozygous recessive trait(having one gene for Gaucher Desease is known as a carrier, they are heterozygous for the disease). For example if someone who is a carrier for Gaucher Disease has a child with someone who actually has the disease there would be a 1/2 chance the child would have the disease because you need 2 alleles for the disease for a child to have it. Below is a depiction of another possible scenario for the inheiritance of Gaucher Disease. Below shows the children that two carrier parents could have and whether or not they would be afflicted. As you can see it is very hard to have a child with Gaucher Disease even if you are a carrier so don't worry.


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Quick Note: Gaucher Disease is named after Dr. Philippe Gaucher the first person ducumented to show signs of the disease.


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