- Case Report
- A case of alkaptonuria : the first case in Korea
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Ji Hyung Nam, Jong Hyun Lee, Kyung Bae Park, Dong Hwan Le
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Clin Exp Pediatr. 2006;49(3):329-331. Published online March 15, 2006
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Alkaptonuria is a rare metabolic disease in which homogentisic acid cannot be metabolized due to a lack of the enzyme homogentisic acid oxidase. The disease often manifests itself in childhood by darkening of the urine upon standing. The disease leads to such serious consequences as ochronosis of cartilage and connective tissues with arthritis. It is expected that treatment with ascorbic... |
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