[Neurological findings in alkaptonuria and ochronosis].
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We report the case of 67-year-old woman who underwent aortic valve replacement and mitral valve repair due to ochronotic valvular disease (alkaptonuria), which was diagnosed incidentally during cardiac surgery.
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Alkaptonuria is a metabolic disorder in which homogentisic acid oxidase is absent. Therefore, homogentisic acid accumulates in cartilage and connective tissues. We can diagnose ochronotic arthropathy, a manifestation of long standing alkaptonuria, through careful radiological, physical, and laboratory examination. In this report, we describe 4 cases of ochronotic arthropathy to which we applied cementless total hip prosthesis due to severe hip involvement.
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