Congenital malabsorptive diarrhoea due to paucity of enteroendocrine cells (Q100075): Difference between revisions
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Revision as of 16:45, 16 August 2026
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.
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| default for all languages | ID_302560695 |
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| English | Congenital malabsorptive diarrhoea due to paucity of enteroendocrine cells |
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. |
