Murila F V
Department of Paediatrics and Child Health College of Health Sciences, University of Nairobi, Nairobi.
East Afr Med J. 1999 May;76(5):281-3.
Galactosaemia is a disorder of galactose metabolism in which raised levels of galactose and galactose-l-phosphate damage various organs. It is a very rare disease (incidence 1 in 60,000) and the diagnosis is often missed, leading to poor prognosis. A case of clinical galactosaemia that was diagnosed at the age of 11 months is reported. It is important to be aware of this condition as early treatment may prevent some of the complications.
半乳糖血症是一种半乳糖代谢紊乱疾病，其中半乳糖和1-磷酸半乳糖水平升高会损害各个器官。它是一种非常罕见的疾病（发病率为1/60000），诊断常常被漏诊，导致预后不良。本文报告了一例11个月大时被诊断出临床半乳糖血症的病例。认识到这种疾病很重要，因为早期治疗可能会预防一些并发症。
