| 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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Department of Pediatrics, College of Medicine, Soonchunhyang University, Seoul, Korea |
| 한국에서 최초로 발견된 알캅톤뇨증 1례 |
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남지형, 이종현, 박경배, 이동환 |
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순천향대학교 의과대학 소아과학교실 |
Correspondence:
Dong Hwan Le, Email: ldh@hosp.sch.ac.kr
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| Abstract |
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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 acid and a dietary restriction of protein may decrease the late and serious consequences by diminishing the serum concentration of the metabolite benzoquinone acetic acid. A thirteen month-old girl was recently diagnosed with alkaptonuria by urine organic acid analysis. She excreted pinkish urine on a diaper and as time went by the urine color changed to a light brown. In laboratory findings, urine examination and culture results were normal. But urine organic acid analysis detected abnormal findings a prominent and massive elevation of homogentisic acid. The other physical findings were normal. This is the first case diagnosed in Korea. |
| Key Words:
Dark urine , Alkaptonuria , Ochronosis |
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