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 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 e...
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BMC
2024-11-01
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| Series: | Lipids in Health and Disease |
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| Online Access: | https://doi.org/10.1186/s12944-024-02348-x |
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| author | Yuanyuan Zheng Yongzhen Li Cuifang Zheng Lin Yang Chongfan Zhang Ying Huang Yuhuan Wang Tian Qian |
| author_facet | Yuanyuan Zheng Yongzhen Li Cuifang Zheng Lin Yang Chongfan Zhang Ying Huang Yuhuan Wang Tian Qian |
| author_sort | Yuanyuan Zheng |
| collection | DOAJ |
| description | 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). |
| format | Article |
| id | doaj-art-d940584eaafa41c3b30f787fdd11235b |
| institution | Kabale University |
| issn | 1476-511X |
| language | English |
| publishDate | 2024-11-01 |
| publisher | BMC |
| record_format | Article |
| series | Lipids in Health and Disease |
| spelling | doaj-art-d940584eaafa41c3b30f787fdd11235b2024-11-17T12:46:14ZengBMCLipids in Health and Disease1476-511X2024-11-012311910.1186/s12944-024-02348-xA 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 studyYuanyuan Zheng0Yongzhen Li1Cuifang Zheng2Lin Yang3Chongfan Zhang4Ying Huang5Yuhuan Wang6Tian Qian7Clinical Nutrition Department, Children’s Hospital of Fudan UniversityClinical Nutrition Department, Starkids Children’s HospitalGastroenterology Department, Children’s Hospital of Fudan UniversityDepartment of Endocrinology and Inherited Metabolic Diseases, Children’s Hospital of Fudan UniversityClinical Guide Making and Evaluation Centre, Children’s Hospital of Fudan UniversityGastroenterology Department, Children’s Hospital of Fudan UniversityGastroenterology Department, Children’s Hospital of Fudan UniversityClinical Nutrition Department, Children’s Hospital of Fudan UniversityAbstract 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).https://doi.org/10.1186/s12944-024-02348-xCongenital diarrheaDiacylglycerol transferase 1 (DGAT1) mutationGrowth retardationLow-fat amino acid dietProspective cohort study |
| spellingShingle | Yuanyuan Zheng Yongzhen Li Cuifang Zheng Lin Yang Chongfan Zhang Ying Huang Yuhuan Wang Tian Qian 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 Lipids in Health and Disease Congenital diarrhea Diacylglycerol transferase 1 (DGAT1) mutation Growth retardation Low-fat amino acid diet Prospective cohort study |
| title | 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 |
| title_full | 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 |
| title_fullStr | 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 |
| title_full_unstemmed | 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 |
| title_short | 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 |
| title_sort | 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 |
| topic | Congenital diarrhea Diacylglycerol transferase 1 (DGAT1) mutation Growth retardation Low-fat amino acid diet Prospective cohort study |
| url | https://doi.org/10.1186/s12944-024-02348-x |
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