Aortic valve stenosis and alkaptonuria

M. W. Cullen, D. S. Nath, C. Dobrescu, J. Eickstaedt, N. M. Edwards

Research output: Contribution to journalArticlepeer-review


Alkaptonuria is a rare, inborn error of metabolism resulting in elevated levels of homogentisic acid (HGA). HGA deposition can trigger tissue destruction. This case describes a patient with known aortic stenosis secondary to alkaptonuria who underwent aortic valve replacement complicated by inherent soft-tissue abnormalities. Other complications of alkaptonuria include early-onset degenerative arthritis, renal stone formation, and possibly atherosclerosis. Treatment involves surgical replacement of affected joints and heart valves. As longevity of patients with alkaptonuria increases, cardiovascular manifestations become more prevalent.

Original languageEnglish
Pages (from-to)229-231
Number of pages3
Issue number5
StatePublished - Oct 1 2007


  • Alkaptonuria
  • Aortic stenosis
  • Homogenitisic acid


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