Briefly noted: JM van Rijn et al. Gastroenterol 2018; 155: 130-43. This study of 10 patients from 6 families (5 had consanguinity) was the largest cohort to date describing the clinical features in this disorder and used patient-derived fibroblasts and organoids to understand the pathophysiology.
Key clinical features:
- Early-onset vomiting and/or diarrhea
- Protein-losing enteropathy/hypoalbuminemia
Key finding in study:
- These patients had altered lipid metabolism and were susceptible to lipid induced cell death. Thus DGAT1 mutations cause congenital diarrhea and this is linked to fat intolerance.
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