Enterokinase deficiency

Definition:

Enterokinase deficiency is autosomal recessive defect leading to severe failure to thrive. Enterokinase is a serine protease of the intestinal brush border in the proximal small intestine. It activates the pancreatic proenzyme trypsinogen, which releases active digestive enzymes.

References:

[1]. Andreas Holzinger, et al. Mutations in the proenteropeptidase gene are the molecular cause of congenital enteropeptidase deficiency. Am J Hum Genet. 2002 Jan;70(1):20-5. [Content Brief]

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