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目的探讨新生儿甲基丙二酸尿症(MMA)的临床特点。方法选择2004年6月至2011年6月我院新生儿病房收治的MMA新生儿,对其临床资料进行分析。结果 12例MMA患儿中男7例,女5例,发病日龄1～20天。主要临床表现包括喂养困难、呕吐、嗜睡、惊厥、呼吸急促、肌张力低下及肌张力增高;实验室检查结果为血小板减少、中性粒细胞减少、代谢性酸中毒、高氨血症、肝脏损害、肾脏损害、酮尿。5例确诊前死亡,2例确诊后放弃治疗。5例随访1个月至2年,2例症状明显改善,3例临床症状完全消失。结论新生儿MMA临床表现复杂且非特异性,病情进展快,预后差,早期诊断和治疗是改善预后的关键。
Objective To investigate the clinical features of neonatal methylmalonic aciduria (MMA). Methods From June 2004 to June 2011, neonates with MMA admitted to neonatal ward in our hospital were selected and their clinical data were analyzed. Results There were 7 males and 5 females in 12 cases of MMA. The age of onset was 1 to 20 days. The main clinical manifestations include feeding difficulties, vomiting, lethargy, convulsions, shortness of breath, hypotonia and increased muscle tone; laboratory tests for thrombocytopenia, neutropenia, metabolic acidosis, hyperammonemia, liver damage , Kidney damage, ketone urine. Five patients died before diagnosis, and two patients gave up treatment after diagnosis. Five cases were followed up for 1 month to 2 years, two cases of symptoms improved significantly, 3 cases of clinical symptoms disappeared completely. Conclusion The clinical manifestation of MMA in neonates is complex and nonspecific, the disease progresses rapidly and the prognosis is poor. Early diagnosis and treatment are the keys to improve prognosis.