Rehabilitation in alkaptonuria. Case report of familiar alkaptonuria
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Online publication date: 2008-07-09
Reumatologia 2008;46(3):175-181
Alkaptonuria (ochronosis) is a rare metabolic disorder inheredited as autosomal recessive error of metabolism. It is due to the mutation of 3q2 gene, leading to the deficiency of enzyme homogentisic acid oxidase (HGO). The excess of homogentisic acid accumulates in the body fluids and tissues producing bluish-black pigmentation of the skin, cartilage, and sclera. as well as of the internal organs such as; blood vessels, endocardium, bronchial cartilage. The deposition of homogentisic acid in the bone cartilage, in the intervertebral discs and in other connective tissue results in the advanced arthritic degenerative changes. This report presents the clinical picture and rehabilitation of two patients with familiar alkaptonuria; 56 years old woman and 59 years old man (sister and brother).
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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