Stephen J. Schueler, M.D.

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Homogentisic Aciduria Overview

Another name for Homogentisic Aciduria is Alcaptonuria.

What is alcaptonuria?
A person with alcaptonuria is unable to process the amino acids, phenylalanine and tyrosine. Alcaptonuria is an inherited disease, but symptoms do not occur until adulthood.

What are the symptoms of alcaptonuria?
Symptoms of alcaptonuria include joint pain, joint swelling, and dark urine.

How does the doctor treat alcaptonuria?
Treatment of alcaptonuria includes vitamin C supplements, and a diet that is low in phenylalanine and tyrosine.

Continue to Homogentisic Aciduria Symptoms

Last Updated: Feb 5, 2010 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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