新生儿脂肪酸氧化障碍1例OA

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.