Overview

Nutrition plays a vital role in the treatment of DGAT1 Deficiency. It is suspected that fat malabsorption is the cause of excessive diarrhea due to a buildup of DGAT1 lipid substrates in the intestinal mucosa. Children can have malnutrition, hyperlipidemia, and protein-losing enteropathy. Therefore, a modified diet, close nutritional assessment and follow up are paramount when treating this disorder.

Diglyceride acyltransferase (DGAT), a protein that acts as an enzyme in the human body, plays a critical role in the body’s ability to absorb and utilize dietary fat. DGAT1, one of two forms of this enzyme, is produced in the cells that line the surface of the intestine. Here, DGAT1 potentiates a chemical reaction that repackages fatty acids from dietary fat into chemical structures (triglycerides, chylomicrons) that can be absorbed from the intestine and made available for energy and other physiologic functions.

Mutations in the genes that encode the DGAT1 enzyme have recently been associated with congenital diarrheal disorders. Infants with gene mutations that alter DGAT1 production may develop vomiting, watery diarrhea, and failure to thrive (FTT) in the first few days of life. These infants often require IV nutrition, as effective treatment requires extreme limitation of dietary fat intake. Fortunately, symptoms of fat intolerance in children with DGAT1 mutations seem to decrease during first few years of life.

Consultation with a dietitian is necessary for management of children with mutations in DGAT1. A very low fat diet is required, and a dietitian will need to provide education regarding how to prevent nutritional deficiencies. The dietitian will assess your child’s diet to assure that he or she is receiving adequate calories for growth, vitamins, minerals and specific types of fats called essential fatty acids.

This website has been developed to provide general information to parents and caregivers of infants and children with DGAT1 mutations. It is not intended to replace care and guidance by a multidisciplinary medical team. Due to the important role of dietary fat in growth and development of infants and young children, careful planning and ongoing monitoring of treatment regimens by both medical and nutrition professionals is essential in the care of individuals with these mutations.