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Alkaptonuria is a hereditary disease of autosomal recessive type that affects the tyrosine catabolism and is characterized by the presence of homogentisic acid in both urine and blood. This report presents the case of a patient diagnosed with alkaptonuria when he was already 12 years old. This case report points out the importance of an early and timely treatment of patients suffering from this condition in order to prevent later complications.

Alcaptonuria: un error innato del metabolismo que desafía la práctica clínica pediátrica