Alkaptonuria Presenting with Impressive Osteoarticular Changes and Severe Aortic Stenosis
Roca, B.; Roca, M.; Monferrer, R.
Connecticut Medicine 80(3): 139-141
2016
ISSN/ISBN: 0010-6178 PMID: 27169295 Document Number: 690574
Alkaptonuria, or ochronosis, a rare autosomal recessive metabolic disorder, causes an excess of homogentisic acid that results in dark pigmentation, calcification, and inflammation of cartilaginous and other tissues. Cardiovascular complications are also typical of the disease. We report the case of a 78-year-old male who presented with impressive osteoarticular changes and aortic stenosis associated with alkaptonuria.
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