Kovács J, Kiss P
Acta Paediatr Acad Sci Hung. 1978;19(2):137-43.
The case of a three-year-old boy with mental retardation, moderate muscular hypotony and speech delay is presented. The mild form of maple syrup urine disease was suspected at the first blood screening test by means of ion-exchange thin-layer chromatography. The diagnosis was confirmed by quantitative serum amino acid analysis and protein loading. On a low protein (2 g/kg body weight) diet completed with leucine-isoleucine-valine free formula prompt and lasting normalization of the serum amino acid level ensued with steady improvement of the clinical and neurological status.
本文介绍了一名患有智力发育迟缓、中度肌张力减退和语言发育迟缓的三岁男孩的病例。在首次血液筛查中，通过离子交换薄层色谱法怀疑为轻度枫糖尿症。血清氨基酸定量分析和蛋白质负荷试验证实了诊断。采用低蛋白（2克/千克体重）饮食并补充不含亮氨酸-异亮氨酸-缬氨酸的配方奶粉后，血清氨基酸水平迅速且持久地恢复正常，临床和神经状态也稳步改善。
