Tags: Disease.
Apparent mineralocorticoid excess (AME) is an autosomal recessive disorder causing hypertension (high blood pressure) and hypokalemia (abnormally low levels of potassium). The condition responds to glucocorticoid treatment. 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.
