Journal
BAHRAIN MEDICAL BULLETIN
Volume 44, Issue 3, Pages 1103-1105Publisher
BAHRAIN MEDICAL BULLETIN
Keywords
Ochronosis; Alkaptonuria; Homogentisic Acid; Achilles Tendon
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Alkaptonuria (AKU) is a rare genetic metabolic disorder caused by deficiency of homogentisic acid oxidase (HGO) enzyme leading to accumulation of homogentisic acid (HGA) in the body. This case report presents a patient who experienced a spontaneous rupture of the Achilles tendon, a complication not previously reported in French and Bahraini literature.
Alkaptonuria (AKU) is a rare genetic metabolic disorder caused by deficiency of homogentisic acid oxidase (HGO) enzyme leading to accumulation of homogentisic acid (HGA) in the body. HGA excreted and oxidized through urine causes its characteristic dark discoloration; however, once accumulated in bodily connective tissues, it causes characteristic dark pigmentation (ochronosis) of tissues, and in the long-term, it leads to degeneration of cartilage and tendons. In this case report, we present a patient who has had a unilateral spontaneous atraumatic rupture of the Achilles tendon. To our knowledge, such a case has not been previously reported in the French and Bahraini literature.
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