Children with DGAT1 deficiency present similarly to children with other congenital diarrheal disorders. Diagnostic workup should proceed in a comprehensive manner that evaluates for these other conditions (intestinal transporter defects, enterocyte dysfunction and epithelial barrier defects, enteroendocrine disorders, and disorders of the immune system). Abnormalities in highlighted diagnostic tests are more consistent with DGAT1 deficiency. The hypoalbuminemia from a protein-losing enteropathy is a defining feature, despite preserved villous/crypt architecture. Lymphangiectasia and CD55 deficiency are also commonly part of the differential diagnosis.