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Papers of the Week
Intraoperative Diagnosis of a Rare Case of Arthropathy – A Case Report and Review of Literature.
Authors
Abstract
Alkaptonuria is a rare metabolic disorder of autosomal recessive pattern of inheritance caused due to homogentisic acid oxidase enzyme deficiency. As a result, polymers of homogentisic acid get deposited in excessive amounts in the connective tissues, leading to brownish-black pigmentation termed as ochronosis. As the disease progresses, chronic inflammation results in arthritis of large weight-bearing joints.