Congenital Diarrhea From DGAT1 Mutation Leading to Electrolyte Derangements, Protein-losing Enteropathy, and Rickets

Congenital diarrhea disorders represent a group of uncommon, clinically varying enteropathies that are often diagnostically challenging. Recent advancements in genetic and molecular testing has allowed for identification of specific genetic etiologies and elucidation of cellular mechanisms in many of these conditions (1). To date, 8 patients with congenital diarrhea due to homozygous recessive DGAT1 (diacylglycerol o-acyltransferase 1) mutations...