中国当代儿科杂志2026，Vol.28Issue(6)：768-771,4.DOI:10.7499/j.issn.1008-8830.2511087
新生儿脂肪酸氧化障碍1例
A case of neonatal fatty acid oxidation disorder
邓玲莉 1邹红梅 1程婷婷 1袁媛 1张华岩1
作者信息
- 1. 广州医科大学附属妇女儿童医疗中心新生儿中心,广东 广州 510623
- 折叠
摘要
Abstract
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.关键词
脂肪酸氧化障碍/肉碱-脂酰肉碱转位酶缺乏症/SLC25A20基因/新生儿Key words
Fatty acid oxidation disorder/Carnitine-acylcarnitine translocase deficiency/SLC25A20 gene/Neonate引用本文复制引用
邓玲莉,邹红梅,程婷婷,袁媛,张华岩..新生儿脂肪酸氧化障碍1例[J].中国当代儿科杂志,2026,28(6):768-771,4.
