Aortic stenosis in endogenous ochronosis.

Endogenous ochronosis, a rare inherited disease of tyrosine metabolism, is caused by a deficiency of the enzyme, homogentisic acid oxidase, and may lead to cardiovascular involvement seen most frequently as aortic valve stenosis. We report the case of a patient with generalized ochronosis who developed cardiovascular symptoms due to aortic valve stenosis and who underwent aortic valve replacement.