Featured Research

from universities, journals, and other organizations

Genetic Testing And Modified Diets May Save Babies Born With Genetic Defect

Date:
June 7, 1999
Source:
Wake Forest University Baptist Medical Center
Summary:
Genetic testing and dietary modification may save the lives of children born with a defect in the gene controlling fatty acid breakdown, a Wake Forest University Baptist Medical Center physician reported in the June 3 issue of the New England Journal of Medicine.

WINSTON-SALEM, N.C. -- Genetic testing and dietary modification may save the lives of children born with a defect in the gene controlling fatty acid breakdown, a Wake Forest University Baptist Medical Center physician reported in the June 3 issue of the New England Journal of Medicine.

Related Articles


Jamal A. Ibdah, M.D., Ph.D., assistant professor of internal medicine (gastroenterology), said screening women who develop a type of liver disease late in pregnancy -- and their newborns -- for the genetic defect could be lifesaving for the newborn.

Ibdah and his colleagues identified the genetic defect in 24 infants or toddlers who had come in with liver, heart or muscular abnormalities suggestive of defects in the body's use of fatty acids -- which ordinarily are used to supply energy and for other essential functions. Eight of the infants died -- seven almost immediately and the other died 18 months later, despite treatment.

"The remaining 16 patients are alive and are currently being treated with dietary modification," Ibdah said. "Eight of the surviving children are now older than 5 years and attending school."

The key to survival was a change in the diets of the affected children. "Dietary treatment in these and other fatty acid oxidation disorders dramatically reduces morbidity and mortality."

Ibdah said for infants with the genetic defect, special formulas are available that both reduce the amount of fat and change the types of fat that the babies get. Older children must follow a special diet that accomplishes the same thing.

He said family histories showed previously unexplained sudden deaths in six siblings.

"The major finding in our study is that of the 24 mothers, 15 developed severe liver disease while carrying the babies," said Ibdah.

The research team speculates that the genetic defect in the fetus causes an accumulation of products of fatty acids produced by the fetus or the placenta that are particularly toxic to the liver of the mother. Further, they said this effect may be exaggerated by the decreased ability of the mother to use fatty acids for energy during pregnancy.

He said the disease occurs in roughly one in every 14,000 pregnancies, and the mortality rate for the mother and babies ranges from 10 to 50 percent.

Some women develop a different, but apparently related disorder, which doctors call HELLP [Hemolysis, Elevated Liver enzymes and Low Platelets]. HELLP is a more common maternal illness of late pregnancy, occurring in about one in every 200 pregnancies, Between 1 and 3 percent of the mothers die, while between 20 and 35 percent of the infants die in severe cases.

Of the 15 mothers with liver disease in the study, 11 had acute fatty liver, while four had HELLP.

Testing those mothers, their partners and the infants for the defect soon after birth could mean early diagnosis in the infant before problems can develop, essentially avoiding the complications. "We can save the babies by screening for this genetic defect," Ibdah said. "Screening can also help physicians better advise these mothers regarding the risk of future pregnancies."

The genetic test is available at the Wake Forest University Baptist Medical Center and at some other academic medical centers

The study was supported by the National Institute of Diabetes and Digestive and Kidney Diseases and the American Digestive Health Foundation. The team also included investigators from the University of Texas Southwestern Medical Center in Dallas, the Mayo Clinic and the Washington University School of Medicine in St. Louis.


Story Source:

The above story is based on materials provided by Wake Forest University Baptist Medical Center. Note: Materials may be edited for content and length.


Cite This Page:

Wake Forest University Baptist Medical Center. "Genetic Testing And Modified Diets May Save Babies Born With Genetic Defect." ScienceDaily. ScienceDaily, 7 June 1999. <www.sciencedaily.com/releases/1999/06/990607071550.htm>.
Wake Forest University Baptist Medical Center. (1999, June 7). Genetic Testing And Modified Diets May Save Babies Born With Genetic Defect. ScienceDaily. Retrieved October 25, 2014 from www.sciencedaily.com/releases/1999/06/990607071550.htm
Wake Forest University Baptist Medical Center. "Genetic Testing And Modified Diets May Save Babies Born With Genetic Defect." ScienceDaily. www.sciencedaily.com/releases/1999/06/990607071550.htm (accessed October 25, 2014).

Share This



More Health & Medicine News

Saturday, October 25, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

IKEA Desk Converts From Standing to Sitting With One Button

IKEA Desk Converts From Standing to Sitting With One Button

Buzz60 (Oct. 24, 2014) IKEA is out with a new convertible desk that can convert from a sitting desk to a standing one with just the push of a button. Jen Markham explains. Video provided by Buzz60
Powered by NewsLook.com
Ebola Protective Suits Being Made in China

Ebola Protective Suits Being Made in China

AFP (Oct. 24, 2014) A factory in China is busy making Ebola protective suits for healthcare workers and others fighting the spread of the virus. Duration: 00:38 Video provided by AFP
Powered by NewsLook.com
WHO: Millions of Ebola Vaccine Doses by 2015

WHO: Millions of Ebola Vaccine Doses by 2015

AP (Oct. 24, 2014) The World Health Organization said on Friday that millions of doses of two experimental Ebola vaccines could be ready for use in 2015 and five more experimental vaccines would start being tested in March. (Oct. 24) Video provided by AP
Powered by NewsLook.com
Doctor in NYC Quarantined With Ebola

Doctor in NYC Quarantined With Ebola

AP (Oct. 24, 2014) An emergency room doctor who recently returned to the city after treating Ebola patients in West Africa has tested positive for the virus. He's quarantined in a hospital. (Oct. 24) Video provided by AP
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:

Breaking News:

Strange & Offbeat Stories


Health & Medicine

Mind & Brain

Living & Well

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

Technology News



Save/Print:
Share:

Free Subscriptions


Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

Get Social & Mobile


Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

Have Feedback?


Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
Mobile: iPhone Android Web
Follow: Facebook Twitter Google+
Subscribe: RSS Feeds Email Newsletters
Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins