• Awais Abbas, Qalab Abbas, Ume-Farwah Zahidi, and Danish Abdul Aziz.
• Department of Paediatrics and Child Health, The Aga Khan University Hospital, Karachi, Pakistan.
• J Coll Physicians Surg Pak. 2023 Jan 1; 33 (1): 293129-31.

AbstractChronic diarrhoea causes morbidity and mortality in low-income countries in the paediatric population. There are many causes of chronic diarrhoea, including diacylglycerol o-acyltransferase 1 (DGAT1) deficiency, an enzyme deficiency, caused by the DGAT1 gene mutation, that leads to accumulation of DGAT1 lipid substrates, fatty acids and diacylglycerol, causing vomiting and chronic diarrhoea, and potentially more severe effects. In this case, a 2-year-old toddler presented in distress and prolonged diarrhoea progressing to multi-organ dysfunction requiring paediatric intensive care unit (PICU) admission. All work-ups for common causes of chronic diarrhoea were negative. However, the DGAT1 gene mutation was positive, prompting management through dietary fat control. Key Words: DGAT1 deficiency, DGAT1 gene mutation, Chronic diarrhoea.

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