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10.5606/tgkdc.dergisi.2022.20909
Incidental diagnosis of ochronosis by aortic valve replacement
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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