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HomePediatrics: General MedicineIntestinal Enterokinase Deficiency

Intestinal Enterokinase Deficiency

Background

Only 13 confirmed cases of primary enterokinase deficiency have been reported since the condition was first described in 1969.
Secondary enterokinase deficiency has been reported in patients with partial or total villous atrophy; however, enterokinase activity is usually not significantly affected in these conditions. A previously described patient developed celiac disease at age 25 years, but enterokinase levels remained low after normalization of intestinal mucosa with gluten-free diet.
Enterokinase, also known as enteropeptidase, is a key enzyme for intestinal digestion of proteins. Therefore, enterokinase deficiency causes severe protein malabsorption with poor growth and development.

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