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. 2015 Oct;20(10):1018-9.
doi: 10.4103/1735-1995.172800.

Alkaptonuric ochronosis

Ahad Azami  1 , Nasrollah Maleki  2
Affiliations

Alkaptonuric ochronosis

Ahad Azami et al. J Res Med Sci. 2015 Oct.
No abstract available

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Figures

Figure 1
Figure 1
Dark pigmentation of the sclera on eye in the interpalpebral fissures
Figure 2
Figure 2
Blue-black discoloration was visible on lateral aspect of the fingers and nailbeds
Figure 3
Figure 3
Lumbar x-ray showed osteophytes and wafer-like calcification of intervertebral discs
See this image and copyright information in PMC

References

    1. La Du BN. Alkaptonuria. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Vogelstein B, editors. The Metabolic and Molecular Bases of Inherited Disease. 8th ed. New York, NY: McGraw-Hill; 2001. pp. 2109–23.
    1. Azami A, Maleki N, Tavosi Z. Alkaptonuric ochronosis: A clinical study from Ardabil, Iran. Int J Rheum Dis. 2014;17:327–32. - PubMed
    1. Wolff JA, Barshop B, Nyhan WL, Leslie J, Seegmiller JE, Gruber H, et al. Effects of ascorbic acid in alkaptonuria: Alterations in benzoquinone acetic acid and an ontogenic effect in infancy. Pediatr Res. 1989;26:140–4. - PubMed
    1. Anikster Y, Nyhan WL, Gahl WA. NTBC and alkaptonuria. Am J Hum Genet. 1998;63:920–1. - PMC - PubMed
    1. Wolff JA, Barshop B, Nyhan WL, Leslie J, Seegmiller JE, Gruber H, et al. Effects of ascorbic acid in alkaptonuria: Alterations in benzoquinone acetic acid and an ontogenic effect in infancy. Pediatr Res. 1989;26:140–4. - PubMed