Researchers Spot New Gene-Linked Gastric Disorder

'Enteric anendocrinosis' causes chronic diarrhea in children, experts say

WEDNESDAY, July 19, 2006 (HealthDay News) -- U.S. researchers say they've identified a genetic disorder that causes congenital diarrhea and intestinal failure in children.

University of California, Los Angeles (UCLA) researchers named the disorder "enteric anendocrinosis." It's caused by a mutation in the Neurogenin-3 (NEUROG3) gene.

The finding -- the first new intestinal disorder identified within the past 15 years -- could help advance stem cell research for both type 1 diabetes and intestinal conditions such as inflammatory bowel disease and irritable bowel syndrome, the researchers said.

"Rare diseases help us understand how the body works," principal investigator Dr. Martin G. Martin, professor of pediatrics, division of gastroenterology and nutrition, Mattel Children's Hospital at UCLA, said in a prepared statement.

His team identified the NEUROG 3 mutation after analyzing DNA from three newborns who suffered vomiting, diarrhea, and dehydration after they were fed baby formula. The findings are published in the July 20 issue of the New England Journal of Medicine.

Children with enteric anendocrinosis have an abnormally low number of endocrine cells in their intestine and eventually develop type 1 diabetes. There is no cure for the condition, which is worsened by eating. Treatment options include specialized formulas and intravenous feeding to minimize diarrhea and promote growth.

"We now know that the hormone-producing endocrine cells of the intestine have an essential role in facilitating nutrition absorption. These findings have already led to the detection of subset forms of enteric anendocrinosis," Martin said.

The study findings could lead to other research advances, he added.

"Since patients with enteric anendocrinosis develop type 1 diabetes, we hope stem cell researchers can apply the knowledge from this discovery to the role of NEUROG3 in the development of insulin-producing islet cells in the pancreas," Martin said.

More information

The Nemours Foundation has more about children and diarrhea.

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