Novel DGAT1 Mutations Identified in Congenital Diarrheal Disorder 7: A Case Report with Therapeutic Experience

1. van Rijn JM, Ardy RC, Kuloğlu Z, Härter B, van Haaften-Visser DY, van der Doef HPJ, et al. Intestinal failure and aberrant lipid metabolism in patients with DGAT1 deficiency. Gastroenterology. 2018;155(1):130–143.e15. van RijnJM ArdyRC KuloğluZ HärterB van Haaften-VisserDY van der DoefHPJ Intestinal failure and aberrant lipid metabolism in patients with DGAT1 deficiency Gastroenterology 2018 155 1 130 143.e15 Search in Google Scholar

2. Cases S, Smith SJ, Zheng YW, Myers HM, Lear SR, Sande E, et al. Identification of a gene encoding an acyl CoA: diacylglycerol acyltransferase, a key enzyme in triacylglycerol synthesis. Proc Natl Acad Sci U S A. 1998;95(22):13018–13023. CasesS SmithSJ ZhengYW MyersHM LearSR SandeE Identification of a gene encoding an acyl CoA: diacylglycerol acyltransferase, a key enzyme in triacylglycerol synthesis Proc Natl Acad Sci U S A 1998 95 22 13018 13023 Search in Google Scholar

3. Haas JT, Winter HS, Lim E, Kirby A, Blumenstiel B, DeFelice M, et al. DGAT1 mutation is linked to a congenital diarrheal disorder. J Clin Invest. 2012;122(12):4680–4684. HaasJT WinterHS LimE KirbyA BlumenstielB DeFeliceM DGAT1 mutation is linked to a congenital diarrheal disorder J Clin Invest 2012 122 12 4680 4684 Search in Google Scholar

4. Stephen J, Vilboux T, Haberman Y, Pri-Chen H, Pode-Shakked B, Mazaheri S, et al. Congenital protein losing enteropathy: an inborn error of lipid metabolism due to DGAT1 mutations. Eur J Hum Genet. 2016;24(9):1268–1273. StephenJ VilbouxT HabermanY Pri-ChenH Pode-ShakkedB MazaheriS Congenital protein losing enteropathy: an inborn error of lipid metabolism due to DGAT1 mutations Eur J Hum Genet 2016 24 9 1268 1273 Search in Google Scholar

5. Eldredge JA, Couper MR, Barnett CP, Rawlings L, Couper RTL. New pathogenic mutations associated with diacylglycerol O-acyltransferase 1 deficiency. J Pediatr.2021;233:268–272. EldredgeJA CouperMR BarnettCP RawlingsL CouperRTL New pathogenic mutations associated with diacylglycerol O-acyltransferase 1 deficiency J Pediatr 2021 233 268 272 Search in Google Scholar

6. Gupta A, Dsouza NR, Zarate YA, Lombardo R, Hopkin R, Linehan AR, et al. Genetic variants in DGAT1 cause diverse clinical presentations of malnutrition through a specific molecular mechanism. Eur J Med Genet. 2020;63(4):103817. GuptaA DsouzaNR ZarateYA LombardoR HopkinR LinehanAR Genetic variants in DGAT1 cause diverse clinical presentations of malnutrition through a specific molecular mechanism Eur J Med Genet 2020 63 4 103817 Search in Google Scholar

7. Schlegel C, Lapierre LA, Weis VG, Williams JA, Kaji I, Pinzon-Guzman C, et al. Reversible deficits in apical transporter trafficking associated with deficiency in diacylglycerol acyltransferase. Traffic.2018;19(11):879–892. SchlegelC LapierreLA WeisVG WilliamsJA KajiI Pinzon-GuzmanC Reversible deficits in apical transporter trafficking associated with deficiency in diacylglycerol acyltransferase Traffic 2018 19 11 879 892 Search in Google Scholar

8. Gluchowski NL, Chitraju C, Picoraro JA, Mejhert N, Pinto S, Xin W, et al. Identification and characterization of a novel DGAT1 missense mutation associated with congenital diarrhea. J Lipid Res. 2017;58(6):1230–1237. GluchowskiNL ChitrajuC PicoraroJA MejhertN PintoS XinW Identification and characterization of a novel DGAT1 missense mutation associated with congenital diarrhea J Lipid Res 2017 58 6 1230 1237 Search in Google Scholar

9. Yen CL, Stone SJ, Koliwad S, Harris C, Farese RV Jr. Thematic review series: glycerolipids. DGAT enzymes and triacylglycerol biosynthesis. J Lipid Res. 2008;49(11):2283–2301. YenCL StoneSJ KoliwadS HarrisC FareseRVJr Thematic review series: glycerolipids. DGAT enzymes and triacylglycerol biosynthesis J Lipid Res 2008 49 11 2283 2301 Search in Google Scholar

10. Chen HC, Farese RV Jr. Inhibition of triglyceride synthesis as a treatment strategy for obesity: lessons from DGAT1-deficient mice. Arterioscler Thromb Vasc Biol.2005;25(3):482–486. ChenHC FareseRVJr Inhibition of triglyceride synthesis as a treatment strategy for obesity: lessons from DGAT1-deficient mice Arterioscler Thromb Vasc Biol 2005 25 3 482 486 Search in Google Scholar

11. 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. XuL GuW LuoY LouJ ChenJ DGAT1 mutations leading to delayed chronic diarrhoea: a case report BMC Med Genet 2020 21 1 239 Search in Google Scholar

12. Ye Z, Huang Y, Wang Y, Lu J, Wu J, Yu Z. Phenotype and genotype of a cohort of Chinese children with early-onset protein-losing enteropathy. J Pediatr. 2019;208:38–42.e3. YeZ HuangY WangY LuJ WuJ YuZ Phenotype and genotype of a cohort of Chinese children with early-onset protein-losing enteropathy J Pediatr 2019 208 38 42.e3 Search in Google Scholar

13. Cheng Q, Fang YH, Luo YY, Lou JG, Chen J. Congenital diarrhea disorders caused by diacylglycerol acyl transferase 1 gene mutation. Zhonghua Er Ke Za Zhi. 2020;58(12):1018–1020. ChengQ FangYH LuoYY LouJG ChenJ Congenital diarrhea disorders caused by diacylglycerol acyl transferase 1 gene mutation Zhonghua Er Ke Za Zhi 2020 58 12 1018 1020 Search in Google Scholar

14. Valentini MA, Fedrizzi VA, Krochik AG, Abbate S, Ferrari M, Contreras MB, et al. DGAT1 mutation in two sisters with failure to thrive: a case report. Arch Argent Pediatr. 2023;121(1):e202202606. ValentiniMA FedrizziVA KrochikAG AbbateS FerrariM ContrerasMB DGAT1 mutation in two sisters with failure to thrive: a case report Arch Argent Pediatr 2023 121 1 e202202606 Search in Google Scholar

15. Ratchford TL, Kirby AJ, Pinz H, Patel DR. Congenital diarrhea from DGAT1 mutation leading to electrolyte derangements, protein-losing enteropathy, and rickets. J Pediatr Gastroenterol Nutr. 2018;66(3):e82–e83. RatchfordTL KirbyAJ PinzH PatelDR Congenital diarrhea from DGAT1 mutation leading to electrolyte derangements, protein-losing enteropathy, and rickets J Pediatr Gastroenterol Nutr 2018 66 3 e82 e83 Search in Google Scholar

16. Wang S, Wang J, Li T, Wang D, Zeng L. Congenital diarrhea and enteropathies caused by DGAT1 gene mutation: a case report and literature review. Chin J Obstet Gynecol Pediatr (Electron Ed).2022;18(2):192–197. (Article in Chinese) WangS WangJ LiT WangD ZengL Congenital diarrhea and enteropathies caused by DGAT1 gene mutation: a case report and literature review Chin J Obstet Gynecol Pediatr (Electron Ed) 2022 18 2 192 197 (Article in Chinese) Search in Google Scholar