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Alkaptonuria is a rare genetic disorder caused by a deficiency of the enzyme homogentisate 1,2-dioxygenase, leading to the accumulation of homogentisic acid in the body. This buildup can cause darkening of urine when exposed to air and may lead to Arthritis and heart problems over time. The condition is inherited in an autosomal recessive manner and is part of a group of metabolic disorders known as tyrosinemias. Management focuses on alleviating symptoms, as there is currently no cure.
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