Stephen J. Schueler, M.D.

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Homogentisic Aciduria Evaluation

The evaluation of alcaptonuria begins with a history and physical examination. The physical exam is normal in someone with alcaptonuria.

The diagnosis of alcaptonuria is made by testing the urine for homogentisic acid.

Continue to Homogentisic Aciduria Treatment

Last Updated: Sep 23, 2008 References
Authors: Stephen J. Schueler, MD; John H. Beckett, MD; D. Scott Gettings, MD
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PubMed Homogentisic Aciduria References
  1. Albers SE, Brozena SJ, Glass LF, Fenske NA. Alkaptonuria and ochronosis: case report andJ Am Acad Dermatol. 1992 Oct;27(4):609-14. [140131]
  2. Brenton DP, Krywawych S. Alkaptonuria. Clin Rheum Dis. 1986 Dec;12(3):755-69. [3078781]
  3. Lorenzini S, Mannoni A, Selvi E: Alkaptonuria. N Engl J Med 2003 Apr 3; 348(14): 1408. [12672874]
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