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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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

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 reported 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.[1]

References

  1. Isolated congenital enterokinase deficiency. Recent findings and review of the literature. Ghishan, F.K., Lee, P.C., Lebenthal, E., Johnson, P., Bradley, C.A., Greene, H.L. Gastroenterology (1983) [Pubmed]
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