What is a classic symptom of alkaptonuria?

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Alkaptonuria is a rare metabolic disorder caused by a deficiency of the enzyme homogentisate oxidase, leading to the accumulation of homogentisic acid in the body. One of the most notable symptoms of this condition is the presence of dark or black urine, which occurs when homogentisic acid is oxidized upon exposure to air. Additionally, individuals with alkaptonuria frequently experience joint pain due to the deposition of this acid in connective tissues, a condition known as ochronosis. This darkening of urine and associated joint pain are hallmark signs of alkaptonuria.

Other symptoms such as anemia, fatigue, nausea, vomiting, pallor, and jaundice are not characteristic of alkaptonuria and are usually associated with different medical conditions. Hence, the combination of joint pain and black urine is specifically indicative of alkaptonuria, making it the classic symptom of this disorder.

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