Congenital malabsorptive diarrhoea due to paucity of enteroendocrine cells (Q100075)

This new type of congenital malabsorptive diarrhoea is characterised by a generalised malabsorption and a paucity of enteroendocrine cells. Patients presented during the first weeks of life with vomiting, diarrhoea, dehydration, and a severe hyperchloremic metabolic acidosis after the ingestion of standard cow's milk-based formula. It was also associated with type 1 diabetes during childhood. This phenotype is caused by loss-of-function mutations in the NEUROG3 gene, coding for neurogenin 3, a protein implicated in endocrine enteric and pancreatic cell development.