| Main clinical features
|
chronic unremitting malabsorptive diarrhea in the first weeks of life, associated to vomiting, dehydration, and severe hyperchloremic metabolic acidosis after the ingestion of standard cows-milk-based formula, associated or not with diabetes at a variable age of onset from early life to childhood, and with abnormalities of the intrahepatic biliary tract, thyroid gland and central nervous system (PMID: 28940958))
bowel biopsies showed normal villus structure and profound dysgenesis of the enteroendocrine cells |