新生儿甲基丙二酸血症临床分析

Clinic Analysis of Neonatal Methylmalonic Acidemia

目的新生儿甲基丙二酸血症的临床特点及诊断方法。方法收集本院2014年1月至2020年12月新生儿科确诊为甲基丙二酸血症的临床资料4例,总结临床表现、血气分析、乳酸、血氨、气相色谱质谱串联分析结果、有机酸测定。结果主要临床表现为呼吸增快、喂养困难、反应低下、顽固性酸中毒、血氨增高。确诊后给予左旋肉碱、维生素B12应用,给予特殊配方奶粉喂养。2例死亡,1例出现癫痫,1例随访至今生长发育良好。结论新生儿甲基丙二酸血症临床表现缺乏特异性,易漏诊、误诊,致死率、致残率高,早发现、早治疗可改善预后。

Objective Clinical characteristic and diagnosis on neonatal methylmalonic acidemia(MMA).Methods Collect 4 cases the diagnosis of neonatal methylmalonic acidemia of clinic date in our hospital NICU from January 2014 to December 2020.Summarize the clinical manifestations,blood gas analysis,lactic acid,blood ammonia,tandem mass spectrometry,organic acid determination.Results The most common clinical manifestations of MMA were tachypnea,feeding difficulty,weakness,intractable acidosis,increased blood ammonia and so on.L-carnitine,cyanocobalamin,special formula milk powder were used treat of MMA.2 cases dead,1 case epilepsia,1 case nomality.Conclusion The clinical picture of neonatal methylmalonic acidemia(MMA)were lack of specificity,which easily to miss diagnosis or misdiagnose.Death rate and Disability rate were high-risk.Early diagnosis and early intervention can be improve the prognosis.