Congenital enteropathy due to enteropeptidase deficiency
Congenital enteropathy due to enteropeptidase deficiency
Definition
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.
Also known as congenital enterokinase deficiency — per MONDO