甲基丙二酸血症12例临床分析

Clinical characteristics of 12 cases with methylmalonic acidemia

目的 探讨甲基丙二酸血症的临床特征.方法 收集甲基丙二酸血症12例的临床资料,总结其临床表现、辅助检查、气相色谱/质谱串联分析尿有机酸测定结果、血气分析、血糖、乳酸、血氨等特点,并对其临床特征及转归情况进行总结.结果 1岁以下首次就诊8例;12例有8例来自农村;12例主要就诊主诉纳差、精神差入院1例,呼吸道感染入院5例,抽搐发作入院3例,体质量不增入院1例,呕吐入院3例,嗜睡入院3例,昏迷入院1例,运动落后入院2例.住院后查尿有机酸分析发现甲基丙二酸明显增高,同时分别有血氨、乳酸升高,高血糖,尿酸高,低蛋白血症,尿蛋白异常,尿酮体异常,阴离子间隙异常增高,影像学及电生理检查的异常.确诊为甲基丙二酸血症,据情况分别给予维生素B12甜菜碱、叶酸、左旋肉碱、限制蛋白质摄入量等治疗.对症治疗好转7例,失访2例;自动出院1例,2例死亡.结论 依据甲基丙二酸血症发病特征,做到早发现、早诊断、早治疗,有利于改善预后.

Objective To investigate the clinical characteristics of methylmalonic acidemia.Methods Methylmalonic acidemia diagnosis and treatment of 12 cases of clinical data were collected,the clinical manifestations,laboratory examinations,gas chromatography/tandem mass spectrometry analysis of the measurement results of urine organic acids,blood gas analysis,glucose,lactic acid,ammonia and other characteristics were sumarized,and the clinical features and outcome of the situation were also sumarized.Results 1 year old first visit eight cases,12 cases,8 cases from rural areas;12 cases of major treatment complained of anorexia,poor spirit hospitalized one case;respiratory infection hospitalized five cases; seizure hospitalized three cases;weight gain admission,one case;vomiting admitted three cases,three cases of drowsiness,coma admitted one case,the movement behind the main complaint admitted two cases.After hospitalization check urine organic acid analysis found significantly increased methylmalonic acid,respectively,while ammonia,lactic acid increased,high blood sugar,high uric acid,low albumin,urine protein abnormalities,abnormal urine ketone bodies,abnormal increased anion gap,video science and abnormal electrophysiological examination.Diagnosed with methylmalonic acidemia,according to the case were given VitB12,betaine,folic acid,L-carnitine,limiting protein intake and other treatment.Symptomatic treatment improved in seven patients,two patients were lost;automatically discharged one case,two cases of death.Conclusion Methylmalonic acidemia based on clinical characteristics,so early detection,early diagnosis,early treatment will help to improve prognosis.