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

Contact: Diane Duke Williams
Washington University School of Medicine

Page: 1 2 3

Related biology news :

1. Genetic mutations linked to the practice of burning coal in homes in China
2. Genetic differences might help distinguish thyroid cancers
3. Genetic modification of linseed produces healthier omega 3 and 6 fatty acids
4. Wiley publishes Welcome to the Genome: A Users Guide to the Genetic Past, Present, and Future
5. Genetically modified bacterium as remedy for intestinal diseases
6. Genetic analysis rewrites salamanders evolutionary history
7. Genetic map of important tree genes outlined
8. Genetically-engineered marathon mouse keeps on running
9. Genetic clues found for common congenital brain disorder
10. Genetic mutation linked to more aggressive breast cancer found more often in African-Americans
11. Genetic discovery could dramatically reduce need for liver transplants in children

Post Your Comments:

(Date:11/22/2019)... ... 21, 2019 , ... The inventors of a new and ... major step forward with that therapy, known as SurVaxM. MimiVax LLC principals Robert ... from Roswell Park in 2012, has entered into a China-exclusive licensing agreement for ...
(Date:11/19/2019)... ... November 19, 2019 , ... Project Lifeline – ... Stores (NACDS) Foundation to address substance use disorder (SUD) – will take ... who have led to the program’s effectiveness in preventing and treating opioid abuse in ...
(Date:11/19/2019)... ... , ... The inaugural Cell & Gene Therapy Day takes place February 27, ... will be chaired by Dr Aiman Shalabi, VP R&D, Cell and Gene Therapies for ... witnessing significant innovation in cell and gene therapies, and we are at a turning ...
Breaking Biology News(10 mins):
(Date:11/6/2019)... ... November 06, 2019 , ... LeadingBiotech ,?an exclusive ... announces its East/West CEO conference to be held January 11-12, 2020 ... Kicking off the week of the J.P. Morgan Healthcare Conference and other biotech ...
(Date:11/5/2019)... ... November 05, 2019 , ... ... it has received CE Mark for its Fusion Bx 2.0 prostate fusion biopsy ... user-friendly interface, the Fusion Bx 2.0 will give urologists across Europe the ability ...
(Date:11/2/2019)... TORONTO (PRWEB) , ... October 31, 2019 , ... ... are not always used to communicating with each other: study managers, principal investigators, ... cause misunderstandings if a party is not informed of the latest data, potentially ...
(Date:11/2/2019)... ... October 31, 2019 , ... ... pharma artificial intelligence pioneer tellic. drug360 brings tellic’s expertise in biomedical language ... allows researchers to quickly uncover relationships between genes, diseases, variants, phenotypes, and other ...
Breaking Biology Technology:
Cached News: