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eISSN: 2084-9834
ISSN: 0034-6233
Reumatologia/Rheumatology
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3/2008
vol. 46
 
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abstract:

CASE REPORT
Rehabilitation in alkaptonuria. Case report of familiar alkaptonuria

Jolanta Jaworek
,
Tomasz Adamczyk
,
Zbigniew Żuber
,
Ewa Klimek-Piskorz

Reumatologia 2008; 46, 3: 175–181
Online publish date: 2008/07/09
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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).
keywords:

alkaptonuria, ochronosis, homogentisic acid, rehabilitation




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