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Updated: Jun 15, 2025

A Fluorescence-based Assay for Characterization and Quantification of Lipid Droplet Formation in Human Intestinal Organoids
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DGAT1 Mutation Associated With Congenital Diarrhea in a Pediatric Patient: A Case Report

Asim Mehmood1, Rida Inam1, Nimra Rabbani1

  • 1Internal Medicine, Shifa College of Medicine, Islamabad, PAK.

Cureus
|August 22, 2024
PubMed

Insights

Genetic testing identified Diacylglycerol acyltransferase 1 (DGAT1) deficiency as the cause of chronic diarrhea in an infant. Early diagnosis and nutritional support led to clinical improvement, highlighting the importance of genetic analysis in congenital enteropathies.

Area of Science:

  • Pediatric Gastroenterology
  • Clinical Genetics
  • Molecular Medicine

Background:

  • Chronic diarrhea in infants presents diagnostic challenges, often requiring investigation beyond common etiologies.
  • Congenital enteropathies, disorders of intestinal function present from birth, can manifest as persistent gastrointestinal symptoms.
  • Diacylglycerol acyltransferase 1 (DGAT1) deficiency is a rare genetic disorder affecting lipid metabolism and intestinal function.

Observation:

  • A one-year-old boy presented with persistent watery diarrhea, vomiting, and failure to thrive.
  • Initial investigations excluded common causes such as celiac disease.
  • Genetic testing was crucial for diagnosing the underlying condition.

Findings:

  • Genetic analysis confirmed DGAT1 deficiency, also known as DGAT1 enteropathy.
  • The patient's symptoms were attributed to this specific congenital disorder.
  • Management focused on intensive nutritional support and close clinical monitoring.

Implications:

  • This case highlights the critical role of early genetic testing in diagnosing rare congenital enteropathies.
  • Timely and tailored management can significantly improve clinical outcomes and prevent severe complications.
  • Understanding DGAT1 deficiency expands knowledge of genetic causes of infant diarrhea and failure to thrive.

Keywords:
case reportcongenital diarrheaenteropathygenetic testingmalnourishment

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