Liddle's syndrome is an autosomal dominant disease. It is recognised by early and severe hypertension. With irregualtion in blood pressure, testing for Liddle's syndrome involves the measurement of plasma renin, plasma aldersterone and blood electrolyte levels. These would be found to be abnormally low in a patient with Liddle's syndrome.
Liddle mutation is in the C terminus of the beta and gamma subunits, which play a key role in trafficking the ENaC protein. AA motif within the C terminus is required for binding of Nedd4. Once Nedd4 is bound it regulates attachment of ubiquitin and triggers endocytosis of ENaC. Mutation therefore increases ENaC expression, increasing salt, blood volume and ultimately blood pressure.