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目的:探讨遗传代谢病的疾病谱、发病率、遗传特征及随访追踪情况。方法:选取2010年12月至2019年12月上海部分助产机构出生的活产儿遗传代谢病筛查结果进行回顾性分析。新生儿均在出生48 h并充分哺乳后采集足跟血置于特定滤纸上，采用非衍生化串联质谱法进行氨基酸、有机酸、线粒体脂肪酸氧化缺陷3大类疾病筛查，对筛查阳性病例召回诊断，确诊患儿进行治疗和随访。结果:共筛查213 391名活产儿，诊断遗传代谢病52例，总发病率为1∶4 104，其中氨基酸代谢障碍28例（1∶7 621），有机酸代谢障碍9例（1∶23 710），线粒体脂肪酸氧化缺陷15例（1∶14 226），发病率排在前4位的依次为苯丙氨酸羟化酶缺乏症12例、短链酰基辅酶A脱氢酶缺乏症8例、高甲硫氨酸血症6例和甲基丙二酸血症5例；另外确诊母源性原发性肉碱缺乏症14例和母源性3-甲基巴豆酰辅酶A羧化酶缺乏症2例。52例患儿随访结果，死亡5例（9.6%），失访3例（5.8%），44例（84.6%）患儿明确诊断后，按照相应的诊疗指南给予特殊奶粉或药物治疗，并定期检测随访，体格和智能发育基本正常。结论:本研究初步调查了上海部分地区新生儿氨基酸、有机酸、线粒体脂肪酸氧化缺陷的发生情况，通过早筛查、早诊断、早干预可改善患儿预后。“,”Objective:To study the disease spectrum, incidences, genetic characteristics and prognosis of inherited metabolic diseases in Shanghai.Method:From December 2010 to December 2019, screening results of genetic and metabolic diseases in neonates from some Maternal and Child Healthcare Centers in Shanghai were reviewed for retrospective analysis. The neonates were breastfed and at 48 hour after birth, their heel blood were collected and tested. Non-derivatized tandem mass spectrometry was used screening for three types of diseases: amino acid metabolism disease, organic acid metabolism disease and mitochondrial fatty acid oxidation deficiency. Neonates with positive results were recalled for further analysis. Neonates with confirmed diagnosis were treated and followed-up.Result:A total of 213 391 neonates were screened and 52 cases of inherited metabolic diseases were diagnosed. The total incidence was 1:4 104. Among them, 28 cases had amino acid metabolism disorder (1:7 621), 9 cases had organic acid metabolism disorder (1:23 710) and 15 cases had mitochondrial fatty acid oxidation deficiency (1:14 226). The top 4 metabolic diseases were phenylalanine hydroxylase deficiency (12 cases), short-chain acyl-CoA dehydrogenase deficiency (8 cases), hypermethioninemia (6 cases) and methylmalonic acidemia (5 cases). In addition, 14 cases of maternal primary carnitine deficiency and 2 cases of maternal 3-methylcrotonyl-CoA carboxylase deficiency were diagnosed. On follow-up, 5 cases died (9.6%), 3 (5.8%) cases were lost, and the other 44 children (84.6%) showed basically normal physical and intellectual development using special formula therapy or medication.Conclusion:This study provides preliminary data on the occurrence of amino acid metabolism disorders, organic acid metabolism disorders and mitochondrial fatty acid oxidation defects in neonates in Shanghai. Early screening, early diagnosis and early intervention can improve their prognosis.