患儿男，2日龄，足月儿，因发现皮肤黄染2 d入院，入院当天突发呼吸骤停、休克，经积极抢救后恢复生命体征。患儿血酰基肉碱结果显示C16∶1、C18、C18∶1等多种长链酰基肉碱含量显著升高，提示脂肪酸代谢障碍，考虑肉碱-脂酰肉碱转位酶缺乏或肉碱棕榈酰基转移酶Ⅱ缺乏可能。全外显子组测序结果显示患儿SLC25A20基因存在c.823C>T（p.Arg275Ter）及c.199‑10T>G复合杂合变异，分别判定为可能致病性和致病性变异，确诊为肉碱-脂酰肉碱转位酶缺乏症。在生后50 d时，患儿因感染诱发代谢危象，再次出现休克表现，家属考虑预后不佳，选择放弃治疗，于生后52 d死亡。肉碱-脂酰肉碱转位酶缺乏症属于先天性脂肪酸氧化障碍的一种。新生儿的脂肪酸氧化障碍疾病起病急，进展快，症状不典型，易误诊且预后不良。该病例可为新生儿脂肪酸氧化障碍的临床识别与管理提供参考。

A full-term male neonate, aged 2 days, was admitted for jaundice lasting more than 2 days. On the day of admission, he developed sudden respiratory arrest and shock; vital signs were restored after active resuscitation. The acylcarnitine profile showed markedly elevated long-chain acylcarnitines, including C16∶1, C18, and C18∶1, indicating a fatty acid oxidation disorder and raising suspicion for carnitine-acylcarnitine translocase deficiency or carnitine palmitoyltransferase II deficiency. Whole-exome sequencing identified compound heterozygous variants in SLC25A20: c.823C>T (p.Arg275Ter) and c.199-10T>G, classified as likely pathogenic and pathogenic, respectively, confirming carnitine-acylcarnitine translocase deficiency. On day 50 of life, infection precipitated a metabolic crisis with recurrent shock; considering the poor prognosis, the family chose to withdraw treatment, and the patient died on day 52 of life. Carnitine-acylcarnitine translocase deficiency is a congenital fatty acid oxidation disorder. Neonatal fatty acid oxidation disorders typically have acute onset, rapid progression, and atypical manifestations, predisposing to misdiagnosis and poor prognosis. This case may serve as a reference for the clinical recognition and management of neonatal fatty acid oxidation disorders.