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Year : 2012  |  Volume : 18  |  Issue : 1  |  Page : 44

Diagnosis of alkaptonuria

Wiwanitkit House, Bangkhae, Bangkok, Thailand

Date of Web Publication10-Jul-2012

Correspondence Address:
Viroj Wiwanitkit
Wiwanitkit House, Bangkhae, Bangkok 10160
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0971-7749.98306

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How to cite this article:
Wiwanitkit V. Diagnosis of alkaptonuria. Indian J Otol 2012;18:44

How to cite this URL:
Wiwanitkit V. Diagnosis of alkaptonuria. Indian J Otol [serial online] 2012 [cited 2021 Jul 30];18:44. Available from: https://www.indianjotol.org/text.asp?2012/18/1/44/98306


The recent report on diagnosis of alkaptonuria is very interesting. [1] Sanji et al. finally proposed that "Although the clinical manifestations of ochronosis occur late in the course of an alkaptonuric patient's life, we must be alert for typical features like darkening of the pinna and tympanic membranes to aid in the diagnosis." [1] Indeed, this disease is characterized by three main characteristics: homogentisic aciduria, eumelanin-like pigmentation, and degenerative ochronic arthropathies. [2] The finding of abnormal ocular manifestation might be a useful tool for help in the diagnosis of this disorder. However, in fact, the abnormal urine should be the first thing to be detected before others in the clinical triad. In the setting where urinalysis is recommended in annual health check-up, the unexplained abnormal acidic urine might be the first thing that leads to further investigation to detect alkaptonuria. An easy next observation is on the bluish colored ears and sclerae. [3],[4]

  References Top

1.Sanji RR, Reddy KE, Channegowda C. Alkaptonuria: Otolaryngologic clues to diagnosis. Indian J Otol 2011;17:22-5.  Back to cited text no. 1
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2.Groseanu L, Marinescu R, Laptoiun D, Botezatu I, Staniceanu F, Zurac S, et al. A late and difficult diagnosis of ochronosis. J Med Life 2010;3:437-43.  Back to cited text no. 2
3.de Boer J, van Dam GW, Franken AA. A woman with bluish-coloured ears. Neth J Med 2003;61:193, 212.  Back to cited text no. 3
4.Essalmi L, Roncato M, Mermet I, Magy-Bertrand N, Meaux-Ruault N, Gil H, et al. Bluish-brown sclera and ears. Rev Med Interne 2007;28:42-3.  Back to cited text no. 4


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