Alkaptonuria and intramedullary calcification.

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2008-07-14
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Abstract
Alkaptonuria is a rare disorder of metabolism caused by deficiency of homogentisic acid oxidase enzyme and characterized by triad of homogentisic aciduria (dark urine), relentlessly progressive arthritis and ochronosis. We have documented a case with typical features of alkaptonuria along with intramedullary calcification which has not been reported in the literature before.
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Raina S, Mahesh DM, Kaushal SS, Gupta D, Dhiman DS, Negi A, Sharma S. Alkaptonuria and intramedullary calcification. Journal of the Association of Physicians of India. 2008 Jul; 56(): 552-5