Congenital malabsorptive diarrhea 4
Congenital malabsorptive diarrhea 4
Definition
Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells is an exceedingly rare genetic gastroenterological disease characterized by severe malabsorptive diarrhea and a lack of intestinal enteroendocrine cells. Within the first weeks of life, patients present with vomiting, dehydration, and severe diarrhea unresponsive to various nutrients and formulas, and require home parenteral nutrition. Diabetes mellitus has also been reported.
Also known as congenital diarrhea caused by mutation in NEUROG3, congenital diarrhoea caused by mutation in NEUROG3, congenital malabsorptive diarrhea due to paucity of enteroendocrine cells, congenital malabsorptive diarrhea type 4, congenital malabsorptive diarrhoea due to paucity of enteroendocrine cells, congenital malabsorptive diarrhoea type 4, enteric anendocrinosis, NEUROG3 congenital diarrhea, NEUROG3 congenital diarrhoea — per MONDO