Abstract
A case of alcaptonuria was reported. This is a rare, hereditary disorder (occurrence rate 2-5/1,000,000) of amino acid metabolism, secondary to lack of homogentisic acid oxydase. As a consequence, there is an accumulation of homogentisic acid which is excreted in the urine and deposited in the connective tissues. This deposition results in ochronotic pigmentation and arthropathy, of which some characteristic radiological findings are demonstrated.
In this paper, we report one case of alcaptonuria who was diagnosed at 61 years of age. Pigmentation of the conjuctiva bulbi and urine was recognized. Osteoarthritic changes were observed in the bi-lateral shoulder and spinal column. Laboratory data showed homogentisic acid in urine. We performed total shoulder replacement, and the clinical results were excellent.
