Incidental diagnosis of ochronosis by aortic valve replacement

Özgür Çoban

doi:10.5606/tgkdc.dergisi.2022.20909

Özgür Çoban¹, Hacı Ali Uçak¹, Muhammet Ahmet Güldür¹, İbrahim Özsöyler¹

¹Department of Cardiovascular Surgery, Adana City Training and Research Hospital, Adana, Turkey

DOI : 10.5606/tgkdc.dergisi.2022.20909

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.

Keywords : Alkaptonuria, aortic valve, homogentisic acid, ochronosis, pathology

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