Department of Pediatrics, Peking University First Hospital, No. 1, Xi-an-men Road, Xicheng District, Beijing 100034, China.
Ann Acad Med Singap. 2008 Dec;37(12 Suppl):120-3.
From June 1998 to May 2007, 9566 urine samples were collected from patients with psychomotor deficits, seizures, vomiting and unconsciousness in Peking University First Hospital. Their urine organic acids profiles were analysed using gas chromatography - mass spectrometry (GCMS), GCMS solution and Inborn Errors of Metabolism Screening System software. In all patients, blood acylcarnitines were analysed using tandem mass spectrometry. One hundred and sixty-eight patients (1.76%) with organic acidurias were detected. Among them, 116 (116/ 168, 69.0%) had methylmalonic aciduria, 63 (54.3%) of these 116 patients had methylmalonic aciduria combined with homocysteinemia. Sixteen (9.5%) of those patients detected with organic acidurias had propionic aciduria, and 15 (8.9%) had multiple carboxylase deficiency. Seven (4.2%) had glutaric aciduria type 1. After dietary treatment, medicine and rehabilitation, clinical improvements were observed in more than half of the patients. Twenty-eight of the 168 patients (16.7%) recovered and led a normal life. The method of urine organic acid analysis by gas chromatography - mass spectrometry and blood acylcarnitines analysis by tandem mass spectrometry have been established and applied successfully in China, namely Beijing, Shanghai, Wuhan and Guangzhou. The prognoses of Chinese patients with organic acidurias have also improved significantly.
1998 年 6 月至 2007 年 5 月，我们收集了北京大学第一医院 9566 例出现运动障碍、抽搐、呕吐和意识不清的患者尿液标本，应用气相色谱-质谱（GC-MS）、GCMS 解决方案和先天性代谢缺陷筛查系统软件对其尿有机酸谱进行了分析。所有患者均采用串联质谱法检测血酰基肉碱。共发现 168 例有机酸血症患者（1.76%）。其中，116 例（116/168，69.0%）为甲基丙二酸血症，116 例中有 63 例（54.3%）合并同型半胱氨酸血症。16 例（9.5%）有机酸血症患者为丙酸血症，15 例（8.9%）为多种羧化酶缺乏症，7 例（4.2%）为 1 型戊二酸血症。经饮食、药物和康复治疗后，超过一半的患者临床症状改善。168 例患者中，28 例（16.7%）痊愈并过上了正常生活。气相色谱-质谱法检测尿有机酸和串联质谱法检测血酰基肉碱的方法已经在中国（北京、上海、武汉和广州）建立并成功应用，有机酸血症患者的预后也明显改善。
