新生儿甲基丙二酸血症6例临床分析

目的：提高儿科医生对甲基丙二酸血症（methylmalonic acidemia,MMA）的认识,减少误诊率。方法：对本院6例MMA新生儿患者的临床资料进行回顾性分析。结果：6例主要临床特点为喂养困难、反应差、反复黄疸、肢体震颤、血小板减少、贫血、高氨血症等。应用气相色谱/质谱联用分析法（GC/MS）行尿有机酸分析均发现尿甲基丙二酸明显增高。确诊后4例给予大剂量VitB12应用,限制蛋白质摄入量。出院前2例临床症状明显改善,随访营养、体格发育良好,2例随访肌张力低、发育迟缓,2例确诊前放弃治疗后死亡。结论：新生儿MMA临床特点不典型,对症治疗效果差时应及早行血、尿有机酸检测明确诊断,使更多的患儿得到及时诊断和治疗。

The Clinical Analysis of 6 Neonates with Disease of MMA

Objective：To improve the pediatrician’s knowledge of methylmalonic acidemia（MMA）.Method：6 cases of neonate with disease of MMA by the way of retrospective analysis were studied.Result：The main clinical feature of 6 neonates with MMA was feeded hardly,reacting badly, jaundice repeatedly,limbs trembling,plate-reduction,anemia,hyperammonemia and so on.The urine of 6 patients was detected by GC/MS.Higher methylmalonic acid level was found in the 6 patients.The booster dosage of vitaminB12 was administered as soon as diagnosis was made on 4 patients. The intake of protein was limited.The clinical symptom of 2 patients was improved obviously prior to discharge.Period of follow-up 2 patients were good in nutrition,physical constitution and development,but low muscular tension and hypoevolutism were found in 2 patients.2 patients were died before the diagnosis was made.Conclusion：The clinical feature of MMA is not obvious.When curative effect of symptomatic treatment is bad,the urine and the blood of the patients should be detected by GC/MS so as to identify the diagnosis and treat in time.