Evidence map›Paper›PMID 39548446›Full record

ArticleLipids in health and disease2024

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.

Yuanyuan Zheng, Yongzhen Li, Cuifang Zheng, Lin Yang, Chongfan Zhang, Ying Huang, Yuhuan Wang, Tian Qian

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In one paragraph

Article in Lipids in health and disease, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

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1citing papers in PubMed
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3 · Its place in the literature

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1 citing paper in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

8 authors.

Yuanyuan ZhengClinical Nutrition Department, Children's Hospital of Fudan University, 399 Wanyuan Road, Minhang District, Shanghai, 201102, China.
Yongzhen LiClinical Nutrition Department, Starkids Children's Hospital, Shanghai, China.
Cuifang ZhengGastroenterology Department, Children's Hospital of Fudan University, Shanghai, China.
Lin YangDepartment of Endocrinology and Inherited Metabolic Diseases, Children's Hospital of Fudan University, Shanghai, China.
Chongfan ZhangClinical Guide Making and Evaluation Centre, Children's Hospital of Fudan University, Shanghai, China.
Ying HuangGastroenterology Department, Children's Hospital of Fudan University, Shanghai, China.
Yuhuan WangGastroenterology Department, Children's Hospital of Fudan University, Shanghai, China.
Tian QianClinical Nutrition Department, Children's Hospital of Fudan University, 399 Wanyuan Road, Minhang District, Shanghai, 201102, China. drqiantian@fudan.edu.cn.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundCongenital 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.

methodsClinical 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.

resultsDue 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.

conclusionsInfants 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 registrationEthical approval was obtained from the Medical Ethics Committee of the Children's Hospital of Fudan University (reference code: No.(2022)405).

Indexed as

Amino AcidsDiacylglycerol O-AcyltransferaseDiarrheaDiet, Fat-RestrictedFemaleHumansInfantInfant, NewbornMaleMutationProspective StudiesAmino AcidsDGAT1 protein, humanDiacylglycerol O-AcyltransferaseCongenital diarrheaDiacylglycerol transferase 1 (DGAT1) mutationGrowth retardationLow-fat amino acid dietProspective cohort study

Identifiers

PMID39548446
PMCPMC11566179

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