DGAT1 Mutation Associated With Congenital Diarrhea in a Pediatric Patient: A Case Report

Overview

Journal Cureus

Specialty Biomedical Engineering

Date 2024 Aug 22

PMID 39171021

Authors

Asim Mehmood

Rida Inam

Nimra Rabbani

Yasser Masood

Affiliations

Soon will be listed here.

Abstract

Chronic diarrhea in infants can stem from various etiologies, including congenital disorders affecting intestinal function. Here, we present a case of a one-year-old boy with persistent watery diarrhea, vomiting, and failure to thrive, ultimately diagnosed with DGAT1 deficiency through genetic testing. Despite initial investigations ruling out common causes like celiac disease, genetic analysis confirmed DGAT1 enteropathy. Management included intensive nutritional support and close monitoring, resulting in clinical improvement. This case underscores the importance of early genetic testing and tailored management in congenital enteropathies to prevent severe complications and improve patient outcomes.

References

Schlegel C, Lapierre L, Weis V, Williams J, Kaji I, Pinzon-Guzman C . Reversible deficits in apical transporter trafficking associated with deficiency in diacylglycerol acyltransferase. Traffic. 2018; 19(11):879-892. PMC: 6191315. DOI: 10.1111/tra.12608. View

Cheng X, Geng F, Pan M, Wu X, Zhong Y, Wang C . Targeting DGAT1 Ameliorates Glioblastoma by Increasing Fat Catabolism and Oxidative Stress. Cell Metab. 2020; 32(2):229-242.e8. PMC: 7415721. DOI: 10.1016/j.cmet.2020.06.002. View

Deolet E, Callewaert B, Geldof J, Van Biervliet S, Velde S, Van Dorpe J . Apoptotic enteropathy, gluten intolerance, and IBD-like inflammation associated with lipotoxicity in DGAT1 deficiency-related diarrhea: a case report of a 17-year-old patient and literature review. Virchows Arch. 2022; 481(5):785-791. DOI: 10.1007/s00428-022-03365-w. View

Shomo Z, Mahboub S, Vanviratikul H, McCormick M, Tulyananda T, Roston R . All members of the Arabidopsis DGAT and PDAT acyltransferase families operate during high and low temperatures. Plant Physiol. 2024; 195(1):685-697. DOI: 10.1093/plphys/kiae074. View

Goldenring J . The challenge of personalized cell biology: The example of microvillus inclusion disease. Traffic. 2019; 21(1):169-171. PMC: 7597464. DOI: 10.1111/tra.12703. View

Xu L, Gu W, Luo Y, Lou J, Chen J . DGAT1 mutations leading to delayed chronic diarrhoea: a case report. BMC Med Genet. 2020; 21(1):239. PMC: 7708908. DOI: 10.1186/s12881-020-01164-1. View

Li J, Sun M, Guo J, Xu L . Case report: Diagnosis and treatment of DGAT1 deficiency-induced congenital diarrhea in two cases and literature review. Front Pediatr. 2023; 11:1253800. PMC: 10613706. DOI: 10.3389/fped.2023.1253800. View

Shankar S, Durairaj E . Diet and Management of Diarrhea. Indian J Pediatr. 2023; 91(6):590-597. DOI: 10.1007/s12098-023-04737-z. View

Hui P, Kanjilal S, Biswas T, Dutta A, Bhattacharjee D, Das M . Congenital chloride diarrhea presenting as dilated fetal bowel loops. Pediatr Neonatol. 2022; 63(6):653-654. DOI: 10.1016/j.pedneo.2022.06.004. View

10.

Liu Z, Smith H, Criglar J, Valentin A, Karandikar U, Zeng X . Rotavirus-mediated DGAT1 degradation: A pathophysiological mechanism of viral-induced malabsorptive diarrhea. Proc Natl Acad Sci U S A. 2023; 120(51):e2302161120. PMC: 10743370. DOI: 10.1073/pnas.2302161120. View

11.

Gupta A, Dsouza N, Zarate Y, Lombardo R, Hopkin R, Linehan A . Genetic variants in DGAT1 cause diverse clinical presentations of malnutrition through a specific molecular mechanism. Eur J Med Genet. 2019; 63(4):103817. DOI: 10.1016/j.ejmg.2019.103817. View

12.

Kijmassuwan T, Balouch F . Approach to Congenital Diarrhea and Enteropathies (CODEs). Indian J Pediatr. 2023; 91(6):598-605. DOI: 10.1007/s12098-023-04929-7. View