Overview

The clinical manifestations and early nutritional management of DGAT1 deficiency have recently been described. The long term prognosis for patients with this disease is not known. The cause of diarrhea with protein-losing enteropathy, and in most cases hypertriglyceridemia, in DGAT1 deficiency are yet to be determined. At present, there are no therapies aimed at increasing the level or activity of DGAT1 in the intestine. Further research is needed to answer these important questions and improve therapies for children with DGAT1 deficiency.