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REVIEW PAPER
The clinical picture of alkaptonuria and ochronosis
Online publication date: 2012-09-07
Reumatologia 2012;50(4):324-335
KEYWORDS
ABSTRACT
Alkaptonuria (ochronosis) is an inherited disorder of metabolism of aromatic amino acids phenylalanine and tyrosine, due to the lack of activity of the enzyme homogentisate 1,2-dioxygenase. The homogentisic acid is not metabolized, accumulates in the body and is excreted into the urine. The polymer – ochronotic pigment – impregnates bradytrophic tissues. Alkaptonuria is characterized by homogentisic acid accumulation in the body, the presence of homogentisic acid in urine, visible, functionally benign symptoms of eyes and ears, and debilitating changes in the locomotor system.
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Copyright: © Narodowy Instytut Geriatrii, Reumatologii i Rehabilitacji w Warszawie. This is an Open Access journal, all articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International (CC BY-NC-SA 4.0) License (https://creativecommons.org/licenses/by-nc-sa/4.0/), allowing third parties to copy and redistribute the material in any medium or format and to remix, transform, and build upon the material, provided the original work is properly cited and states its license.
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