有机酸血症5例  

Clinical Survey of 5 Children with Organic Acidemias

作　　者：陈黎[1] 陈淑丽[2] 李若馨[2] 肖志田[1] 付丹[3] 廖建湘[1] 

机构地区：[1]深圳市儿童医院神经内科,广东深圳518026 [2]深圳市儿童医院儿科研究所遗传代谢室,广东深圳518026 [3]深圳市儿童医院重症监护室,广东深圳518026

出　　处：《实用儿科临床杂志》2006年第8期479-480,506,共3页Journal of Applied Clinical Pediatrics

摘　　要：目的提高对遗传代谢病神经系统症状的认识。方法应用气相色谱-质谱联用仪(GC/MS)对5例病人的尿样本作有机酸分析,进行筛查诊断,对3例丙二酸血症(MMA)及2例丙酸血症(PA)作以确诊。确诊后接受相应饮食和药物治疗。结果治疗后5例有机酸血症患儿智力、运动发育情况均有改善。结论有机酸血症临床表现复杂,对于不明原因的酸中毒伴意识障碍、惊厥、发育迟滞等症状的病人,须警惕遗传代谢病。GC/MS尿有机酸分析是有机酸尿(血)症筛查与诊断的可靠方法。早诊断及早治疗对改善预后尤为关键。Objective To improve the recognition of nervous system symptoms of inborn errors, Methods Five patients with organic acidemias were screened by urine organic acid analysis （ gas chromotography - mass spectrometry, GC/MS）, 3 cases of methylmalolic acidemias（MMA） and 2 eases of propionic aeidemias（PA） were confirmed. They were treated with special diet and medicine after diagnosis. Result The improvement of mental development was observed after treatment. Conclusions Most of organic acidemias involve nervous systems, causing non- specific symptoms of nervous system as lethergy, seizures, mental retardation. Inborn errors of metabolism shall be kept in mind when cauls of the symtoms of acidosis, seisures, mental retardation and lethergy are investigated. GC/MS is a very important method in diagnosis of organic acidemias. Early diagnosis and early treatment can improve the mental prognosis.

关 键 词：有机酸血症 甲基丙二酸血症 丙酸血症 气相色谱 质谱联用仪 

分 类 号：R725.8[医药卫生—儿科]