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目的:分析新生儿期起病的先天性代谢缺陷病患儿临床特点及预后，为临床诊治提供帮助。方法:选择2007年1月至2019年6月北京大学第一医院儿科病房收治的新生儿期起病的先天性代谢缺陷病患儿临床资料及随访结果进行回顾性分析。结果:共收治先天性代谢缺陷病患儿838例，其中新生儿期起病和(或)诊断88例，因明确合并其他严重神经系统疾病排除8例，最终入组80例，以甲基丙二酸尿症最常见(53/80，66.2%)。70例有症状患儿中，48例(48/70，68.6%)于生后7 d内起病。患儿症状缺乏特异性，喂养困难最常见(53/80，66.2%)，其次为神经系统症状包括脑病(47/80，58.8%)、惊厥(28/80，35.0%)等；实验室检查示高氨血症85.0%(68/80)、代谢性酸中毒52.5%(42/80)，其中中重度代谢性酸中毒患儿均为有机酸血症。56例入院后24 h内完成脑电图检查，其中52例(92.9%)异常，轻者为睡眠周期欠成熟或背景活动不连续，重者为低电压、暴发-抑制等。患儿整体预后不良，63例(78.8%)完成18个月随访，其中19例(30.2%)死亡，29例(46.0%)严重智力运动发育迟滞。脑电图背景中重度异常患儿预后差(n P＝0.012)。n 结论:新生儿期起病的先天性代谢缺陷病多在生后1周内起病，无特异症状，常合并高氨血症及代谢性酸中毒；脑电图背景活动中重度异常提示可能预后不良。“,”Objective:To study the clinical characteristics and prognosis of neonatal inborn error of metabolism (IEM) for better clinical diagnosis and treatment.Method:From January 2007 to June 2019, the clinical data and follow-up results of cases of IEM with neonatal onset admitted to neonatal ward of our hospital were analysed retrospectively.Result:A total of 838 children with IEM were treated during the period, including 88 cases of neonatal onset and/or diagnosed. 8 cases were excluded due to the combination of other serious nervous system diseases, and 80 cases were finally enrolled in the study. Methylmalonic aciduria (MMA) was the most common disorder (53/80, 66.2%). Among the 70 symptomatic patients, 48 cases (48/70, 68.6%) presented symptoms within 7 days after birth. The clinical manifestations of the children were not specific, and feeding difficulty was the most common (53/80, 66.2%) symptom, followed by neurological symptoms including encephalopathy (47/80, 58.8%) and convulsions (28/80, 35.0%). Laboratory tests showed that 85.0% (68/80) had hyperammonemia, 52.5% (42/80) had metabolic acidosis.The infants with moderate to severe metabolic acidosis were all diagnosed with organic acidemia. 56 cases completed EEG examinations within 24 hours after admission and 52 cases (92.9%) were abnormal. The mild-abnormal EEG showed immature sleep cycle or discontinuous background activity and the severe one showed low voltage or burst-suppression. The overall prognosis of these children was poor. 63 cases (78.8%) completed 18-month follow-up, 19 cases (30.2%) died and 29 cases (46.0%) had severe mental and motor retardation. The prognosis of children with moderate-and severe-abnormal background of EEG were significantly worse than children with normal or mild-abnormal background, and the differences were statistically significant (n P=0.012).n Conclusion:IEM usually occurs within one week after birth, and the clinical manifestations are often unspecific. The diagnosis of metabolic diseases should be confirmed as soon as possible in infants with hyperammonemia and severe metabolic acidosis. Moderate-and severe-abnormal background activity of EEG may indicate a poor prognosis.