Congenital enteropathy due to enteropeptidase deficiency
ORPHA:168601· ICD-10 K90.8
Definition
Congenital enteropathy due to enteropeptidase deficiency is a rare, genetic, gastroenterological disease characterized by early-onset failure to thrive, edema, hypoproteinemia, diarrhea and fat malabsorption (or steatorrhea) in the presence of very low or absent trypsin activity in duodenal fluid. Celiac disease, or other pancreatic or mucosal disorders, may be associated.
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal