目的 探讨海南省少数民族地区新生儿人群脂肪酸氧化代谢障碍（FAOD）的发病率，分析确诊患儿的临床特点，为海南省出生缺陷预防提供依据。方法 收集海南省少数民族地区2016年10月至2021年12月新生儿遗传代谢疾病串联质谱筛查数据。采用串联质谱技术检测新生儿干血斑中游离肉碱以及30种酰基肉碱水平。初筛阳性新生儿进行召回复查血串联质谱，气相质谱测尿有机酸，采集新生儿及其父母外周血进行基因测序。结果 研究期间共出生66 578名新生儿，参与筛查46 285名（69.5%），初筛阳性513例（初筛阳性率为1/90），召回501例，确诊FAOD 11例，发病率1/4208，其中原发性肉碱缺乏症6例，短链、中链、极长酰基辅酶A脱氢酶缺乏症各1例，肉碱棕榈酰转移酶Ⅰ和Ⅱ缺乏症各1例。结论 海南省少数民族地区新生儿人群FAOD发病率较高，以原发性肉碱缺乏症较为多见。建议将新生儿遗传代谢病串联质谱筛查纳入新生儿常规筛查项目。

Objective To investigate the incidence of fatty acid oxidative metabolism disorders (FAOD) in the neonatal population in ethnic minority areas of Hainan Province, and to analyse the clinical characteristics of the diagnosed children, so as to provide the basis for the prevention of birth defects in Hainan Province. Methods Tandem mass spectrometry screening data of newborns with inherited metabolic disorders from October 2016 to December 2021 were collected from ethnic minority areas in Hainan Province. Tandem mass spectrometry was used to detect the levels of free carnitine as well as 30 acylcarnitines in dried blood spots of newborns. Initial screen-positive neonates were recalled for review of blood tandem mass spectrometry, urinary organic acids were measured by gas-phase mass spectrometry, and peripheral blood was collected from neonates and their parents for gene sequencing. Results A total of 46285 newborn samples were screened, of which 513 were positive in the first screening, the positive rate of the first screening was 1/90, 501 cases were recalled, and 11 cases of fatty acid β -oxidation metabolic disease were diagnosed, the incidence rate was 1/4208, including 6 cases of primary carnitine deficiency, 1 case of short chain, medium chain and very long acyl-CoA dehydrogenase deficiency, and 1 case of carnitine palmitoyl transferase I and II deficiency. Conclusion The incidence of fatty acid β-oxidative metabolic disease is high among newborns in minority areas of Hainan province, and primary carnitine deficiency is more common. It is suggested that the screening of neonatal genetic metabolic diseases by tandem mass spectrometry should be included in the routine of newborn screening program.