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目的:探讨新生儿有机酸尿症的临床特点。方法:应用气相色谱-质谱联用(GS-MS)有机酸分析方法确诊有机酸尿症新生儿14例,确诊后进行相应饮食和药物治疗,随访1月～1年。结果:确诊为有机酸尿症的14例新生儿中,检出甲基丙二酸尿症8例,丙酸尿症2例,甘油酸尿症2例,高草酸尿症1例,异戊酸尿症1例。结论:新生儿有机酸尿症临床表现复杂,病情变化快。早期诊断和治疗是改善预后的关键。GC-MS是新生儿有机酸尿症筛查和诊断的可靠的方法。
Objective: To investigate the clinical features of neonatal organic aciduria. Methods: 14 cases of newborns with organic aciduria were diagnosed by gas chromatography-mass spectrometry (GS-MS) organic acid analysis. After diagnosis, the corresponding diet and medication were followed up for 1 month to 1 year. Results: Of 14 newborns diagnosed as organic aciduria, 8 cases of methylmalonic aciduria, 2 cases of propionic aciduria, 2 cases of glyceric aciduria, 1 case of hyperoxaluria, 1 case of aciduria. Conclusion: The clinical manifestations of organic aciduria in neonates are complicated and the condition changes rapidly. Early diagnosis and treatment is the key to improving prognosis. GC-MS is a reliable method of screening and diagnosing organic aciduria in newborns.