TY - JOUR
T1 - Chronic Congenital Diarrhoea Linked to DGAT 1 Mutation
AU - Abbas, Awais
AU - Abbas, Qalab
AU - Zahidi, Ume Farwah
AU - Aziz, Danish Abdul
PY - 2023/1/1
Y1 - 2023/1/1
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=85171360727&partnerID=8YFLogxK
U2 - 10.29271/jcpspcr.2023.29
DO - 10.29271/jcpspcr.2023.29
M3 - Article
C2 - 37710930
AN - SCOPUS:85171360727
SN - 1022-386X
VL - 33
SP - 29
EP - 31
JO - Journal of the College of Physicians and Surgeons--Pakistan : JCPSP
JF - Journal of the College of Physicians and Surgeons--Pakistan : JCPSP
IS - 1
ER -