Taylor C J, Rattenbury J M, Allen J C, Tulloh R
Department of Paediatrics, Children's Hospital, Sheffield.
Arch Dis Child. 1988 Nov;63(11):1388-90. doi: 10.1136/adc.63.11.1388.
A 4 week old infant who failed to thrive was found to have galactose in his urine. Plasma galactose concentration was grossly raised (4.48 mmol/l; reference range less than 0.24 mmol/l) but red cell transferase and epimerase activities were normal. He improved when dietary lactose was excluded. Clinical and biochemical tolerance to galactose was evident by 7 months of age.
一名4周大生长发育迟缓的婴儿被发现尿液中有半乳糖。血浆半乳糖浓度显著升高(4.48毫摩尔/升;参考范围小于0.24毫摩尔/升),但红细胞转移酶和差向异构酶活性正常。排除饮食中的乳糖后,他的情况有所改善。到7个月大时,对半乳糖的临床和生化耐受性明显表现出来。