DGAT-1 deficiency: Congenital diarrhea and dietary treatment.

• Tác giả: Beatrice Da Prada, Manfred Fobker, Clemens Gardemann, Judit Horvath, Thomas Kaiser, Thorsten Marquardt, Ulrike Och
• Ngôn ngữ: eng
• Ký hiệu phân loại: 634.62 *Dates
• Thông tin xuất bản: United States : JPGN reports , 2025
• Bộ sưu tập: NCBI
• ID: 748728
• Chủ đề: 1. Dgat; 2. 1; 3. Deficiency

Tóm tắt

DGAT-1 (Diacylglycerol Acyltransferase-1) deficiency is an autosomal recessive disorder which causes severe impairment in lipid absorption. We report a case of an infant suffering from persistent diarrhea starting at the age of four weeks. Further investigations identified DGAT-1 deficiency as underlying cause. A treatment plan was developed which included a very-low fat diet administered as infant formula, essential fatty acid supplementation, C8 medium chain triglycerides- and fat-soluble vitamin supplementations. The patient was put into full remission after administration of the treatment plan and weight curves normalized at the 50th percentile at the age of 24 months. Intermittent episodes of loose stools were due to an excessive intake of fructose via extensive fruit consumption. DGAT-1 deficiency is a rare genetic disease which leads to congenital diarrhea and is especially dangerous in infancy. Our treatment plan put the patient into full remission showing that C8 MCT oil should be preferred over treatment with C8/C10 mixtures.