Peker Erdal, Yonden Zafer, Sogut Sadik
Research Hospital of the Mustafa Kemal University, Hatay, Turkey.
Indian J Dermatol Venereol Leprol. 2008 Nov-Dec;74(6):700. doi: 10.4103/0378-6323.45142.
Alkaptonuria is a rare disorder of metabolism characterized by deficiency of homogentisic acid oxidase. Characteristic features include darkening of urine, ochronosis, and arthropathy. Darkening of urine is the only sign of the disorder in the pediatric age group, and it occurs at very early stage of the disorder, as reported by the parents. A 4-year-old boy presented to our clinic with the complaint of dark urine and bluish black staining of clothes. This darkening pointed to a positive physical history of bluish discoloration of sclerae which occurred off and on. We initiated treatment with ascorbic acid and a protein diet with restriction of phenylalanine and tyrosine (1.6 g/kg/d). This case report is significant because of the early diagnosis made.
黑尿症是一种罕见的代谢紊乱疾病，其特征是尿黑酸氧化酶缺乏。特征性表现包括尿液变黑、褐黄病和关节病。尿液变黑是儿童年龄组该疾病的唯一症状，且如家长所报告，它在疾病的非常早期阶段就会出现。一名4岁男孩因尿液变黑和衣服出现蓝黑色污渍前来我们诊所就诊。这种变黑表明有巩膜间歇性出现蓝色变色的阳性既往史。我们开始用维生素C以及限制苯丙氨酸和酪氨酸（1.6克/千克/天）的蛋白质饮食进行治疗。该病例报告因早期诊断而具有重要意义。
