Congenital enteropathy due to enteropeptidase deficiency

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Synonyms: Congenital enterokinase deficiency

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version June 2024

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