enterokinase 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.