摘要
[目的]探讨智力低下患儿氨基酸、有机酸代谢异常的筛查、诊断与治疗方法。[方法]以2376例原因不明的智力低下、惊厥、呕吐、代谢性酸中毒、意识障碍等来院就医的患儿为对象，通过临床调查、实验室检查进行筛查与诊断，根据病种分别给予治疗。[结果]共425例（17.9％）患儿得以确诊，其中氨基酸代谢异常384例，有机酸血症41例。320例患儿确诊后开始治疗，临床症状明显改善。[结论]氨基酸、有机酸代谢异常多以神经系统损害为主，早期诊断、早期治疗是改善预后的关键，对于原因不明的智力低下、惊厥等患儿应进行相关检查。
[Objective] To study the screening, diagnosis and treatment of aminoacidopathies, organic aciduria.[Methods] 2 376 Patients with mental retardation, seizures, vomiting, growth disorders, metabolic acidosis or lethargy were screened. The diagnosis was made by clinical investigation and laboretory examination(e. g. amino acid analysis, organic acid analysis by gas chromatography/ mass spectrometry). The treatment was given individually. [Results] 384 Patients with aminoacidopathies and 41 patients with organic aciduria were confirmed, respectively. 320 patients were treated, and significant improvement of clinical condition was observed. [Conclusion] The most of aminoacidopathies and organic aciduria involve nervous system. To improve the mental prognosis of the patients, early diagnosis and adequate treatment are very important.
出处
《中国儿童保健杂志》
CAS
2000年第2期82-83,共2页
Chinese Journal of Child Health Care
基金
国家教委留学回国人员科研启动基金
关键词
筛查
氨基酸
代谢异常
有机酸
智力低下
儿童
Screening, Aminoacidopathy, Organic aciduria, Mental retardation
