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Ochronosis is a rare metabolic disorder characterized by the accumulation of homogentisic acid in the body, leading to darkening of connective tissues, particularly in cartilage and skin. This condition is often associated with alkaptonuria, a genetic disorder caused by a deficiency in the enzyme homogentisate oxidase. Symptoms may include dark urine, joint pain, and a blue-black discoloration of the skin and cartilage. Over time, it can lead to joint degeneration and other complications.

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2w ago

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