Abstract:Ochronosis is a rare autosomal recessive metabolic disorder that is caused by a lack of the homogentisic acid (HGA) oxidase enzyme (1). The deficiency results in the accumulation of HGA within connective tissues, such as hyaline cartilages, intervertebral discs, tendons, skin, and sclera (2). The other common clinical manifestations are degeneration of intervertebral discs and large joints, dark urine on addition of alkali, renal stones, and cardiac involvement (1).There is no effective specific treatment. The… Show more
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