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Genetic testing of pregnant women with liver illness could save infant lives

St. Louis, June 3, 1999 -- In the third trimester of pregnancy, some women are struck suddenly by swelling, severe nausea, vomiting or jaundice -- symptoms of an illness called acute fatty liver of pregnancy (AFLP). These women and their partners sometimes have passed on a genetic mutation that prevents their babies from processing certain fats for energy. In severe cases, the genetic defect can result in a baby's death.

To save lives, researchers at Washington University School of Medicine in St. Louis are recommending that women with AFLP be screened, along with their partners and children, for this mutation, which is called E474Q. They published their study in the June 3 issue of the New England Journal of Medicine.

"The main message here is that families should be tested before the babies are born so that the babies can be appropriately treated and death can be prevented," said Arnold W. Strauss, M.D., professor of pediatrics, who headed the study. "It's also important to test families so they can be appropriately advised about the risk of the mothers having the same sort of liver disease with future pregnancies."

Babies born with this mutation usually get acutely ill when they are a few months old. They suffer from a variety of conditions, ranging from liver failure to heart muscle and skeletal muscle disorders to sudden death. Each baby has a defect in an enzyme called long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD). When faulty, this enzyme can't complete its mission of breaking down fatty acids. Sugars provide fuel for four or five hours following a meal, then the body uses fatty acids as an energy source. For babies with the mutation, this is not possible.

The E474Q mutation is recessive, which means that a baby with the disorder needs to inherit one copy of the defective gene from each parent in order to develop the disease. A mother who carries just one defective copy is healthy until she becomes pre
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Contact: Diane Duke Williams
duke@medicine.wust.edu
314-286-0111
Washington University School of Medicine
3-Jun-1999


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