All issues > Volume 49(3); 2006

Case Report

Korean J Pediatr. 2006;49(3):329-331. Published online March 15, 2006.

A case of alkaptonuria : the first case in Korea

Ji Hyung JH Nam¹, Jong Hyun JH Lee¹, Kyung Bae KB Park¹, Dong Hwan DH Le¹

¹Department of Pediatrics, College of Medicine, Soonchunhyang University, Seoul, Korea

Correspondence Dong Hwan DH Le ,Email: ldh@hosp.sch.ac.kr

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