Prior to having a diagnosis. the initial management of children with DGAT1 deficiency resembles that of children with congenital diarrheal disorders. The children will often need to be hospitalized and under the care of a pediatric gastroenterologist. At the beginning, an elemental formula is trialed, as an allergic enteropathy is one of the most common causes of infantile diarrhea. Depending on the severity of the initial presentation, initiation of parenteral nutrition may be necessary. If the diagnostic workup raises suspicion for DGAT1 deficiency or genetic testing confirms the diagnosis, starting a low fat formula/diet should be undertaken immediately. Early in life, several children with DGAT1 deficiency have shown adequate control of diarrhea and appropriate growth when fat content was restricted to <10% of caloric intake. Once on a low-fat diet, the symptoms often resolve relatively quickly and growth rebounds.
Due to the concomitant malabsorption and protein-losing enteropathy that appears related to fat content of feeding, parameters of fat metabolism and intestinal malabsorption must be monitored closely, regardless of intervention. Appropriate supplementation of micronutrients must accompany regular monitoring. Parenteral nutrition can be weaned. Based on whether or not the child has an essential fatty acid deficiency, sometimes intravenous fat needs to be continued while enteral oil supplementation is initiated.
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