FAQs

Essential fatty acids can be measured in the blood. Deficiency should be suspected if the child developes a rash.

There are many theories about why lacking the ability to make triglycerides in the intestine might result in loss of protein and diarrhea. One unusual finding is the elevation of triglycerides in the blood of many children with DGAT1 deficiency. While this seems to be counterintuitive, it might be caused by an increase in triglyceride production in the liver mediated by another DGAT gene, DGAT2. One theory for what causes diarrhea is that fats involved in triglyceride production accumulate in the cells that line the intestine resulting in defective absorption. In this theory, fat acts like a kind of toxin affecting the cells in the intestine that are responsible for absorbing nutrients and causing diarrhea. The difference between humans and mice is that DGAT1 is primarily found in the human intestine; whereas, DGAT2 is found in the mouse. This might explain why the mouse who is deficient in DGAT1 does not have diarrhea.

At mutation in DGAT1 should be suspected in a child who has diarrhea and protein-losing enteropathy. Children who are Ashkenazi Jewish are more likely to be affected, but as more children are being identified it is clear that mutations in the gene occur in other ethnic groups.

To learn more about labs that do genetic testing, please visit our centers of expertise page.