title: Alkaptonuria Presenting with Impressive Osteoarticular Changes and Severe Aortic Stenosis.
abstract: 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.
authors.forename: Bernardino
authors.initials: B
authors.lastname: Roca
authors.forename: Manuel
authors.initials: M
authors.lastname: Roca
authors.forename: Raquel
authors.initials: R
authors.lastname: Monferrer
mesh_terms: D000368:Aged; D000474:Alkaptonuria / Q000150:complications / Q000175:diagnosis / Q000378:metabolism / Q000503:physiopathology; D001024:Aortic Valve Stenosis / Q000175:diagnosis / Q000209:etiology / Q000601:surgery; D019644:Arthroplasty, Replacement, Hip / Q000379:methods; D002805:Chondrocalcinosis / Q000000981:diagnostic imaging / Q000209:etiology; D019468:Disease Management; D019918:Heart Valve Prosthesis Implantation / Q000379:methods; D006713:Homogentisic Acid / Q000652:urine; D006801:Humans; D008297:Male; D015207:Osteoarthritis, Hip / Q000209:etiology / Q000601:surgery; D011859:Radiography
chemical_list: D006713:Homogentisic Acid