Radiologic manifestations in alcaptonuria

Abstract

Alcaptonuria is a rare, hereditary disorder of amino acid metabolism, secondary to lack of homogentisic acid oxydase. As a consequence, there is ex 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.