Aortic valve stenosis in alkaptonuric ochronosis.

Abstract

Alkaptonuria is a rare genetic disorder of tyrosine metabolism in which a bluish pigment accumulates in the connective tissues throughout the body, and causes degenerative changes. The most common clinical manifestation of ochronosis is arthropathy. Heart valves may also be affected, though cardiac involvement is rare. The present patient has cardiac ochronosis, and has several family members diagnosed with ochronosis and aortic valve stenosis.

• Authors: Miha Cercek, Katja Prokselj, Mirta Kozelj
• Journal: The Journal of heart valve disease (J Heart Valve Dis) Vol. 11 Issue 3 Pg. 386-8 (May 2002) ISSN: 0966-8519 [Print] England
• PMID: 12056732 (Publication Type: Case Reports, Journal Article)

Chemical References

• Tyrosine

Topics

• Aged
• Alkaptonuria (complications, diagnosis, genetics)
• Aortic Valve Stenosis (complications, diagnosis, genetics)
• Family Health
• Female
• Genetic Predisposition to Disease
• Humans
• Ochronosis (complications, diagnosis, genetics)
• Tyrosine (genetics, metabolism)