Liddle's syndrome

Liddle's Syndrome is an autosomal dominant disorder that mimics hyperaldosteronism.

It involves problems with excess absorption of sodium and loss of potassium.

The syndrome is independent of Aldosterone Levels which are usually low.

The syndrome is caused by disregulation of an epithelial Na+ channel (ENaC) due to a genetic mutation. The mutation changes a domain in the channel so it is no longer degraded correctly by the Ubiquitin Proteasome system. Specifcally the PY motif in the protein is deleted or altered so the E3 ligase (Nedd4) no longer recognizes the channel.

Liddle's Syndrome is inherited in an autosomal dominant fashion.

The treatment is with an agent such as amiloride.