ArticleJPGN reports2025
DGAT-1 deficiency: Congenital diarrhea and dietary treatment.
Article in JPGN reports, 2025. 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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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
1 citing paper in PubMed.
- DGAT-1 deficiency: Congenital diarrhea and dietary treatment.JPGN reports · 2025Article
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Authors and funding
7 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
DGAT-1 (Diacylglycerol Acyltransferase-1) deficiency is an autosomal recessive disorder which causes severe impairment in lipid absorption. We report a case of an infant suffering from persistent diarrhea starting at the age of four weeks. Further investigations identified DGAT-1 deficiency as underlying cause. A treatment plan was developed which included a very-low fat diet administered as infant formula, essential fatty acid supplementation, C8 medium chain triglycerides- and fat-soluble vitamin supplementations. The patient was put into full remission after administration of the treatment plan and weight curves normalized at the 50th percentile at the age of 24 months. Intermittent episodes of loose stools were due to an excessive intake of fructose via extensive fruit consumption. DGAT-1 deficiency is a rare genetic disease which leads to congenital diarrhea and is especially dangerous in infancy. Our treatment plan put the patient into full remission showing that C8 MCT oil should be preferred over treatment with C8/C10 mixtures.
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