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Alkaptonuria: a case report |
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| Authors: | Odabas A R Karakuzu A Selcuk Y Erdem T Cetinkaya R |
| Affiliation: | Atatürk University Faculty of Medicine, Department of Nephrology, Turkey. |
| Abstract: | Alkaptonuria is a rare, autosomally recessive, metabolic disorder caused by a deficiency in homogentisic acid oxidase. It results in accumulation and deposition of homogentisic acid in cartilage, eyelids, forehead, cheeks, axillae, genital regions, nail beds, buccal mucosa, larynx, tympanic eardrum, and the tendons. We report a 33-year-old woman who presented with alkaptonuria and ochronotic pigment deposited in articular cartilage and cartilage of the ear and sclera. |
| Keywords: | akaptonuria homogenitisic acid metabolic disorder ochronosis |
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