Article

Severe aortic stenosis with alkaptonuria: a case report

2024-01-31

Abstract excerpt

Alkaptonuria, a rare metabolic disease, is caused by a genetic deficiency of the homogentisic acid oxidase enzyme involved in phenylalanine and tyrosine metabolism. Ochronotic arthropathy and cardiovascular involvement, which manifests itself in 4-6 decades as a result of homogentisic acid accumulation in cartilage and connective tissue, are the most important causes of mortality and morbidity. We present a 75-yea...

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Literature Corpus work: f97f55c3-15b4-50db-bf29-b4e80ad3c069
DOI: 10.22541/au.170669626.67538855/v1

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