Related Experiment Video

Updated: May 21, 2025

A Fluorescence-based Assay for Characterization and Quantification of Lipid Droplet Formation in Human Intestinal Organoids
10:12

A Fluorescence-based Assay for Characterization and Quantification of Lipid Droplet Formation in Human Intestinal Organoids

Published on: October 13, 2019

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DGAT-1 deficiency: Congenital diarrhea and dietary treatment

Clemens Gardemann1, Ulrike Och1, Manfred Fobker2

  • 1Department of Pediatrics University Hospital Muenster Muenster Germany.

JPGN Reports
|May 19, 2025
PubMed

Insights

Diacylglycerol Acyltransferase-1 (DGAT-1) deficiency causes severe lipid malabsorption. A tailored treatment plan, including a low-fat diet and C8 MCT oil, achieved full remission in an infant with this rare genetic disorder.

Area of Science:

  • Genetics
  • Pediatrics
  • Nutrition

Background:

  • Diacylglycerol Acyltransferase-1 (DGAT-1) deficiency is a rare autosomal recessive disorder.
  • It leads to severe impairment in lipid absorption and congenital diarrhea, posing significant risks during infancy.

Purpose of the Study:

  • To report a case of DGAT-1 deficiency in an infant presenting with persistent diarrhea.
  • To describe a successful treatment strategy for this condition.

Main Methods:

  • Diagnostic investigations to identify DGAT-1 deficiency.
  • Development and implementation of a treatment plan including a very-low fat diet, essential fatty acid and fat-soluble vitamin supplementation, and C8 medium chain triglycerides (MCTs).

Main Results:

  • The infant achieved full remission of symptoms, with normalized weight curves by 24 months.
  • Intermittent loose stools were linked to excessive fructose intake from fruit consumption.
  • C8 MCT oil was identified as a preferred treatment component over C8/C10 mixtures.

Conclusions:

  • DGAT-1 deficiency is a critical diagnosis in infants with persistent diarrhea.
  • A comprehensive treatment approach, emphasizing C8 MCT oil, can effectively manage the condition and promote normal growth.

Keywords:
DGAT‐1MCTcongenital diarrheagastroenterology

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