Embargoed for Release until 4 p.m. on Wednesday, June 2, 1999 Genetic Testing and Modified Diets May Save Babies Born With Genetic Defect, Wake Forest University Baptist Medical Center Study Shows 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.
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 d
Contact: Robert Conn, Mark Wright or Jim Steele
Wake Forest University Baptist Medical Center