中国实用儿科杂志2013，Vol.28Issue(7)：522-524,3.
儿童甲基丙二酸血症95例临床分析
Clinical analysis of methylmalonic acidemia in 95 children
摘要
Abstract
Objective To accumulate knowledge of methylmalonic acidemia (MMA) screening by studying the clinical characteristics and laboratory characteristics of the disease.Methods The clinical manifestations and the results of laboratory tests of 95 cases of MMA were analyzed.Results The age of onset was from 1 day to 12 years.Six cases had the episodes of vomiting,lethargy in 14 cases and recurrent difficuhy with feeding in 4 cases,seizures in 24 cases,mental retardation and movement disorders in 18 cases,dysarthria in 3 cases,debilitation and BLE edemas in 10 cases,jaundice in 7 cases,complaints of precordium in 6 cases,anaemia in 3 cases.The laboratory tests showed that the counts of white blood cells(WBC)were increased in 26 cases and the counts of red blood cells (RBC)were decreased in 26 cases.The results of urine routine tests were abnormal in 37 cases.The results of renal function tests were abnormal in 18 cases.The results of hepatic function tests were abnormal in 17 cases.The results of myocardial enzyme were abnormal in 40 cases.The results of blood gas test were abnormal in 1 1 cases.The levels of glucose were decreased in 6 cases.The levels of lactic acid were increased in 62 cases.The levels of blood ammonia were increased in 50 cases.Remarkable elevation of urinary methymalonic concentration was confirmed in 97％ patients by gas chromatography-mass spectrometry (GC-MS).Remarkable elevation of C3,C3/C0 and C3/C2 concentrations was confirmed in 89％ patients by liquid chromatography-tandem mass spectrometry (LC-MS/MS).Conclusion The main clinical features of MMA include lethargy,seizure,vomiting,developmental retardation or regradation,hyperarmnonemia and hyperlactacidemia.Urine organic acids analysis by GS-MS and dry blood spots (amino acids and acylcarnitine) analysis by LC-MS/MS are very important to the diagnosis of MMA.关键词
甲基丙二酸血症/儿童/气相色谱-质谱联用分析/液相色谱-串联质谱分析Key words
methymalonic acidemia/ children / gas chromatography-mass spectrometry/ liquid chromatography-tandem mass spectrometry分类
医药卫生引用本文复制引用
李启亮,宋文琪..儿童甲基丙二酸血症95例临床分析[J].中国实用儿科杂志,2013,28(7):522-524,3.基金项目
北京市科委首都特色基金(项目编号:Z121107005112008) （项目编号:Z121107005112008）
