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CASE REPORT
Korean J Pediatr 2006 March;49(3) :329-331.
doi:https://doi.org/10.3345/kjp.2006.49.3.329
A case of alkaptonuria : the first case in Korea
Ji Hyung Nam (Nam JH), Jong Hyun Lee (Lee JH), Kyung Bae Park (Park KB), Dong Hwan Le (Le DH)
Department of Pediatrics, College of Medicine, Soonchunhyang University, Seoul, Korea
Corresponding Author: Dong Hwan Le ,Email: ldh@hosp.sch.ac.kr
Copyright © 2006 by The Korean Pediatric Society
ABSTRACT
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.
Keywords: Dark urine | Alkaptonuria | Ochronosis
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