enterokinase deficiency

(redirected from enteropeptidase deficiency)

enterokinase deficiency

A life-threatening intestinal malabsorption disorder (OMIM:226200) characterised by diarrhoea, failure to thrive and hypoproteinaemic oedema.

Molecular pathology
Defects in TMPRSS15 (PRSS7), which encodes proenterokinase, a serine protease responsible for activating pancreatic proteolytic proenzymes, cause enterokinase deficiency.
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Congenital enteropeptidase deficiency is an extremely rare pathology that satisfies the foregoing criteria.