Isolated congenital enterokinase deficiency. Recent findings and review of the literature

Fayez K. Ghishan, P. C. Lee, Emanuel Lebenthal, Philip Johnson, Charles A. Bradley, Harry L. Greene

Research output: Contribution to journalReview articlepeer-review

29 Scopus citations


We report a 13-mo-old patient with isolated congenital enterokinase deficiency and review the clinical features, diagnostic approach, and management of all 8 reported patients. Our patient presented with failure to thrive, diarrhea, and hypoproteinemia since birth. A normal sweat chloride with small intestinal histology, and nondetectable trypsin activity in the duodenal fluid should alert the physician to the possibility of isolated enterokinase deficiency. All reprted patients, including our own, responded favorably to pancreatic enzyme replacement. In vitro studies of the small intestinal mucosal biopsy specimen suggest that enterokinase deficiency at least in part is due to altered enzymes with low enterokinase activity.

Original languageEnglish (US)
Pages (from-to)727-731
Number of pages5
Issue number3
StatePublished - Sep 1983

ASJC Scopus subject areas

  • Hepatology
  • Gastroenterology


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