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目的 探讨新生儿甲基丙二酸血症(MMA)的临床特征和治疗方法.方法 对首都医科大学附属北京儿童医院新生儿内科2002年5月至2008年9月20例应用气相色谱-质谱法(gas chromatography-mass spectrometry,GC/MS)进行尿或血有机酸分析确诊的新生儿MMA的临床资料进行分析.结果 20例患儿中男15例,女5例;发病日龄0～23 d,15例(75%)生后1周内发病.主要表现有喂养困难16例,反应减弱14例,呕吐6例,4例呼吸急促,惊厥3例,肌张力减低13例等.血小板减少10例,血气分析提示失代偿性酸中毒6例,高氨血症8例,20例尿甲基丙二酸浓度明显增高.15例头颅CT检查异常.未予治疗10例中1例确诊前死亡,7例放弃治疗出院后死亡,2例出院后失访.10例确诊患儿接受维生素B12治疗,同时予低蛋白饮食及左旋肉碱.2例死亡,8例进行2个月至3年5个月的随访.4例临床症状完全消失,4例明显好转.结论 新生儿MMA的临床表现是非特异性的,GC/MS尿有机酸分析可确诊本病,早期发现和治疗是改善预后的关键.

Clinical analysis of neonatal methylmalonic academia in 20 cases

??Objective??This study aimed to explore the clinical characteristics and treatment of neonatal methylmalonic academia??MMA??. Methods??The clinical data of 20 patients with neonatal MMA were analyzed and the diagnoses were confirmed by gas chromatography-mass spectrometry??GC/MS??. Results??The patients consisted of 15 males and 5 females?? whose age of onset ranged from 0 to 23 days with 15 cases ??75%??early in the first week after birth.The main clinical manifestations were poor feeding??16 cases???? weak reaction??14 cases???? vomitting??6 cases???? hyperpnea??4 casas???? convulsion??3 cases???? hypotonia??13 cases???? etc. Ten cases presented with thrombocytopenia. The laboratory findings showed metabolic acidosis in 6 cases?? hyperammonemia in 8 cases and remarkable elevation of urinary methylmalonic acid concentration in all cases. Some abnormalities were noted by the brain CT in 15 cases. Of the 10 cases without therapy ?? one patient died before the diagnosis was made?? 7 cases died at home after giving up therapy?? 2 cases failed to have follow-up. Ten cases received therapy of vitamin B12 and supplementation of L-carnitine with restricted-protein diet. The follow-up for a period ranging from 2 months to 3 years and 5 months of the 8 survivals with medical therapy showed a favorable outcome,no symptoms in 4 cases and apparent improvement in 4 cases. Conclusion??The clinical manifestations of neonatal MMA are nonspecific. GC/MS can be used to confirm the diagnosis. Early diagnosis and early treatment is the key to improve the prognosis.