Other Conditions & Exposures

Expert reports about Other Conditions & Exposures


INFORMATION FOR WOMEN WHO HAVE GAUCHER DISEASE WHILE PREGNANT OR BREASTFEEDING

 

What is Gaucher disease?

Gaucher disease is a problem with components of cells called lysosomes, which accumulate chemical compounds called glycolipids. This can happen in tissues of a variety of organs, such as the liver, bones, spleen, brain, and spinal cord, resulting in a range of severities and disabilities, depending on which organs are affected. The glycolipids accumulate because the individual lacks an enzyme called glucocerebrosidase, which normally enables chemical degradation glycolipids inside the lysosomes. The person lacks the enzyme due to a genetic abnormality. Each of us carries two copies of the gene needed to make the enzyme, but we need only one working copy to make adequate supplies of the enzyme. The problem comes in when two parents get together, each of whom carries an abnormal copy of the gene. Such parents are carriers for the condition. Each time they conceive a child, there is a 25 percent chance that the child will receive two detective copies of the gene. Thus, Gaucher disease is known as a "recessive genetic condition." As for the reason why a gene copy can be abnormal, dozens of different genetic mutations have been identified in the glucocerebrosidase gene.


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