Chronic Congenital Diarrhoea Linked to DGAT 1 Mutation

Awais Abbas, Qalab Abbas, Ume Farwah Zahidi, Danish Abdul Aziz

Research output: Contribution to journalArticlepeer-review


Chronic 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.

Original languageEnglish
Pages (from-to)29-31
Number of pages3
JournalJournal of the College of Physicians and Surgeons--Pakistan : JCPSP
Issue number1
Publication statusPublished - 1 Jan 2023


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