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Primary intestinal enteropeptidase deficiency.

J R Green, S W Bender, H G Posselt

    Journal of Pediatric Gastroenterology and Nutrition
    |September 1, 1984
    PubMed
    Summary
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    This study reports a rare case of primary enteropeptidase deficiency in an infant. The deficiency was confirmed by biochemical analysis, showing no enzyme activity, but it could be restored with porcine enteropeptidase.

    Area of Science:

    • Biochemistry
    • Gastroenterology
    • Pediatrics

    Background:

    • Primary enteropeptidase deficiency is a rare genetic disorder affecting protein digestion.
    • Early diagnosis and management are crucial for affected infants.

    Observation:

    • A case study detailing the clinical presentation and treatment of an infant with primary enteropeptidase deficiency from birth to 18 months.
    • Biochemical analysis of small intestinal biopsy and duodenal juice samples were performed.

    Findings:

    • Confirmed total absence of enteropeptidase activity in the patient's duodenal juice.
    • Low basal proteolytic activity in native duodenal juice was observed.
    • In vitro activation with porcine enteropeptidase restored normal proteolytic activity.

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    Implications:

    • Highlights the diagnostic challenges and biochemical confirmation methods for enteropeptidase deficiency.
    • Suggests potential therapeutic strategies involving enzyme replacement or activation.
    • Emphasizes the importance of early intervention for improving outcomes in rare digestive disorders.