Journal
TURK GOGUS KALP DAMAR CERRAHISI DERGISI-TURKISH JOURNAL OF THORACIC AND CARDIOVASCULAR SURGERY
Volume 30, Issue 1, Pages 117-120Publisher
BAYCINAR MEDICAL PUBL-BAYCINAR TIBBI YAYINCILIK
DOI: 10.5606/tgkdc.dergisi.2022.2090
Keywords
Alkaptonuria; aortic valve; homogentisic acid; ochronosis; pathology
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Alkaptonuria is a rare metabolic disease characterized by the accumulation of homogentisic acid due to enzyme deficiency, leading to darkening of urine color, degenerative arthritis, and tissue pigmentation.
Alkaptonuria is a rare inherited metabolic disease caused by homogentisic acid oxidase enzyme deficiency. Homogentisic acid formed during phenylalanine and tyrosine metabolism cannot be further metabolized and accumulates due to this enzyme deficiency. Some of the homogentisic acid that cannot be removed by metabolism is excreted with urine, some of it causes this accumulation known as ochronosis, which is characterized by dark pigmented color change in tissues. The classic clinical triad of the disease is darkening of the urine color, degenerative arthritis in the joints and dark colored pigmentation in the connective tissue. Herein, we present a case of ochronosis detected incidentally during aortic valve replacement with the diagnosis of aortic insufficiency.
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