新生儿甲基丙二酸血症2例临床病例分析

Clinical analysis of 2 cases of neonatal methylmalonic acidemia

目的探讨2例新生儿甲基丙二酸血症(MMA)的临床特点和诊疗过程。方法回顾性分析临床资料,进行遗传代谢病血筛和尿筛,并完善基因检测。结果两名患儿首发症状均为纳差、反应及精神差,且合并有多系统损害,血筛及尿筛显示甲基丙二酸血症,其中一例检测出致病基因,遗传自父母;另一例未检测出明确致病基因。结论甲基丙二酸血症的临床表现多样化,容易误诊,新生儿串联质谱筛查可及早发现,基因测序有利于明确具体分型,早期诊断对本病的治疗和预后具有重要意义。

Objective Investigate the clinical features and treatment of 2 cases of neonatal methylmalonic acidemia(MMA).Methods To retrospectively analyze the clinical data of 2 cases.Genetic metabolic disease was screened by blood and urine,as well as genetic testing.Results The first symptoms of the two children were anorexia,poor response and mental retardation,combined with multisystem damage.Urine gas chromatography-mass spectrometry and blood tandem mass spectrometry showed methylmalonic acidemia,one of them had clear pathogenic genes which were inherited from parents.In another case,no causative gene was identified.Conclusion Methylmalonic acidemia has diversified clinical manifestations and is easy to be misdiagnosed.Neonatal tandem mass spectrometry screening can be used to early detect children with MMA,and gene screening is helpful to determine the type of MMA.Early diagnosis is the key to improve the treatment and prognosis.