A low-fat amino acid diet reverses intestinal failure and shows good growth trends in five infants with diacylglycerol transferase 1 (DGAT1) deficiency: a prospective cohort study

Abstract

Abstract Background Congenital diarrheas and enteropathies (CODEs) caused by diacylglycerol transferase 1 (DGAT1) mutations often cause disease within 2 weeks after birth. If not treated properly, the disease can be life-threatening; therefore, early diagnosis and rational treatment strategies are essential. This study was conducted to improve the understanding of congenital diarrhea caused by DGAT1 deficiency. Methods Clinical data from five congenital diarrhea infant cases caused by DGAT1 deficiency were analyzed. Infants were prospectively provided with a nutritional intervention with a low-fat amino acid formula for special medical purposes (FSMP). Their gastrointestinal symptoms and nutritional complications before and after interventions were compared. Results Due to poor weight gain and gastrointestinal symptoms after birth, infants were treated by our clinical nutritionist. Genetic testing confirmed a compound heterozygous mutation in DGAT1. Neither hydrolyzed nor high-medium chain triglyceride (MCT) formula significantly alleviated diarrheal symptoms; however, a low-fat amino acid diet rapidly relieved symptoms and significantly improved nutritional status, with infants showing better tolerance to dietary fat content with age. Conclusions Infants with DGAT1 deficiency can be diagnosed by genetic testing. A low-fat amino acid FSMP formula and diet can quickly relieve diarrhea, vomiting, and other symptoms, and also improve infant growth and development. Trial registration Ethical approval was obtained from the Medical Ethics Committee of the Children’s Hospital of Fudan University (reference code: No.(2022)405).

Keywords

• Congenital diarrhea
• Diacylglycerol transferase 1 (DGAT1) mutation
• Growth retardation
• Low-fat amino acid diet
• Prospective cohort study