References:
1. Phornphutkul C, Introne WJ, Perry MB, et al. Natural History of
Alkaptonuria. N Engl J Med . 2002;347(26):2111-2121.
doi:10.1056/NEJMoa021736
2. Braconi D, Millucci L, Bernardini G, Santucci A. Oxidative stress and
mechanisms of ochronosis in alkaptonuria. Free Radical Biology and
Medicine . 2015;88:70-80. doi:10.1016/j.freeradbiomed.2015.02.021
3. Hannoush H, Introne WJ, Chen MY, et al. Aortic stenosis and vascular
calcifications in alkaptonuria. Mol Genet Metab .
2012;105(2):198-202. doi:10.1016/j.ymgme.2011.10.017
4. Ather N, Roberts WC. Cardiovascular ochronosis. Cardiovascular
Pathology . 2020;48:107219. doi:10.1016/j.carpath.2020.107219
5. Lok ZSY, Goldstein J, Smith JA. Alkaptonuria-Associated Aortic
Stenosis: ALKAPTONURIA. J Card Surg . 2013;28(4):417-420.
doi:10.1111/jocs.12129
6. Gottschalk BH, Blankenstein J, Guo L. Ochronosis of Mitral Valve and
Coronary Arteries. The Annals of Thoracic Surgery .
2018;106(1):e19-e20. doi:10.1016/j.athoracsur.2018.01.074
Figure 1: External Manifestations of Alkaptonuria.Cartilaginous blue discoloration of the antihelix of the pinna (left)
and sclera discoloration (right) due to deposition of homogentisic acid
derivatives.