MOLECULE

Apparent mineralocorticoid excess syndrome

Apparent mineralocorticoid excess syndrome (AME) is an autosomal recessive disorder causing hypertension, hypernatremia and hypokalemia. It results from mutations in the HSD11B2 gene, which encodes the kidney isozyme of 11β-hydroxysteroid dehydrogenase type 2. In an unaffected individual, this isozyme inactivates circulating cortisol to the less active metabolite cortisone. Liquorice consumption can also inhibit the enzyme and cause AME.