中国医学创新Issue(22)：47-48,49,3.DOI:10.3969/j.issn.1674-4985.2013.22.022
新生儿甲基丙二酸血症6例临床分析
The Clinical Analysis of 6 Neonates with Disease of MMA
李雪琴 1张璋 1熊虹1
作者信息
- 1. 郑州市儿童医院 河南 郑州 450053
- 折叠
摘要
Abstract
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.关键词
甲基丙二酸血症/新生儿/临床特征/气相色谱/质谱联用分析法Key words
Methylmalonic acidemia/Neonate/Clinical feature/Gas chromatography mass spectrometry引用本文复制引用
李雪琴,张璋,熊虹..新生儿甲基丙二酸血症6例临床分析[J].中国医学创新,2013,(22):47-48,49,3.
