目的 调查青岛市新生儿脂肪酸氧化障碍性疾病（fatty acid oxidation disorder, FAOD）的发病率、基因突变特点和预后。 方法 收集青岛市新生儿疾病筛查中心2014—2023年确诊的FAOD患儿的临床资料，分析FAOD的发病率、基因型和预后。 结果 在562 225例新生儿中，共确诊42例FAOD患儿（6种亚型），总发病率为1/13 386。其中原发性肉碱缺乏症最常见（20例，48%），随访期间1例出现生长发育迟缓；中链酰基辅酶A脱氢酶缺乏症6例，随访期间患儿均发育良好；短链酰基辅酶A脱氢酶缺乏症5例，随访期间1例出现皮肤红斑、丘疹、鳞屑伴干燥；极长链酰基辅酶A脱氢酶缺乏症5例，随访期间1例死亡，1例反复出现横纹肌溶解；短/支链酰基辅酶A脱氢酶缺乏症4例，随访期间1例语言发育倒退；多种酰基辅酶A脱氢酶缺乏症2例，随访期间1例死亡，1例运动发育迟缓。对42例FAOD患儿中的37例行基因检测，结果显示SLC22A5基因c.1400C>G为原发性肉碱缺乏症患儿的热点突变，其余FAOD亚型未检出类似高频热点突变。 结论 青岛市新生儿FAOD以原发性肉碱缺乏症发病率最高，其热点突变为SLC22A5基因c.1400C>G。除极长链酰基辅酶A脱氢酶缺乏症和多种酰基辅酶A脱氢酶缺乏症外，其余亚型患儿大多预后良好。

Objective To investigate the incidence, genetic mutation characteristics, and prognosis of fatty acid oxidation disorder (FAOD) in neonates in Qingdao. Methods Clinical data of neonates diagnosed with FAOD from 2014 to 2023 at the Qingdao Neonatal Disease Screening Center were collected and analyzed to determine the incidence, genotype, and prognosis. Results Among 562 225 neonates screened, 42 were diagnosed with FAOD across six types, yielding an overall incidence of 1/13 386. Primary carnitine deficiency was the most common (20 cases, 48%), with one case showing growth retardation during follow-up. Medium-chain acyl-CoA dehydrogenase deficiency was identified in 6 cases, all of whom demonstrated normal development during follow-up. Short-chain acyl-CoA dehydrogenase deficiency was diagnosed in 5 cases, with one case exhibiting skin erythema, papules, scaling, and dryness during follow-up. Very-long-chain acyl-CoA dehydrogenase deficiency was diagnosed in 5 cases; during follow-up, one patient died and another experienced recurrent rhabdomyolysis. Short/branched-chain acyl-CoA dehydrogenase deficiency was found in 4 cases, with one case showing language regression during follow-up. Multiple acyl-CoA dehydrogenase deficiency was detected in 2 cases; during follow-up, one patient died and one exhibited delayed motor development. Genetic testing performed on 37 of the 42 patients with FAOD identified a hotspot mutation, c.1400C>G, in the SLC22A5 gene among those with primary carnitine deficiency, whereas no predominant hotspot mutations were detected in other FAOD subtypes. Conclusions In Qingdao, primary carnitine deficiency is the most prevalent subtypes of FAOD in neonates, characterized by the hotspot mutation c.1400C>G in the SLC22A5 gene. Except for very-long-chain acyl-CoA dehydrogenase deficiency and multiple acyl-CoA dehydrogenase deficiency, most children with other FAOD subtypes have a favorable prognosis.