山西医科大学学报2018，Vol.49Issue(1)：48-52,5.DOI:10.13753/j.issn.1007-6611.2018.01.011
新生儿甲基丙二酸血症的临床特点分析
Clinical characteristics of methylmalonic acidemia during neonatal period
摘要
Abstract
Objective To summarize the clinical and laboratory characteristics of methylmalonic acidemia during neonatal period.Methods Totally 21 neonates diagnosed with methylmalonic acidemia were hospitalized in the NICU from 2008 to 2016.The clinical manifestations,diagnosis,treatment and biochemical features were collected and analyzed.Gene test was performed in 2 cases.All of the patients were followed up.Results Six(28.6％) of 21 cases were methylmalonic acidemia combined with homocysteinemia,of which,2 cases were confirmed to be CblC defect by gene test.The common clinical manifestations were feeding difficulty(16 cases),weakness(13 cases),seizure(7 cases),and fever(3 cases).Laboratory findings showed hyperammonemia(11 cases),metabolic acidosis (10 cases),megaloblastic anemia(8 cases),neutropenia (7 cases),thrombocytopenia (7 cases),and liver dysfunction (3 cases).Only 3 patients were admitted with suspected inborn errors of metabolism.Totally 11 cases were treated with cobalamin,L-carnitine,special diet or betaine.Among 21 cases,7 cases were loss of follow-up,6 cases died,7 cases had mild to severe mental retardation,and 1 case had normal mental and physical development.Conclusion The clinical manifestations and laboratory findings of neonatal methylmalonic acidemia are lack of specificity,manifested with thrombocytopenia,neutropenia or erythropenia.It is easy to be misdiagnosed,with high mortality and morbidity rate.Methylmalonic acidemia combined with homocysteinemia is common,but the treatment is different from isolated MMA.关键词
甲基丙二酸血症/高同型半胱氨酸血症/新生儿Key words
methylmalonic acidemia/hyperhomocysteinemia/neonatal分类
医药卫生引用本文复制引用
吴海兰,董世霄,刘红,靳绯,翁景文,沈艳华,姜敏..新生儿甲基丙二酸血症的临床特点分析[J].山西医科大学学报,2018,49(1):48-52,5.基金项目
北京市属医院科研培育计划项目(PX2016042) （PX2016042）
