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Alkaptonuria and intramedullary calcification
S Raina1, D M Mahesh, S S Kaushal
1Department of Medicine, Indira Gandhi Medical College, Shimla.
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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