陈志凤 黄俐婷 丁月琴

    [摘要] 新生儿异戊酸血症缺乏特异性的临床表现，早期诊断困难，如若不及早诊治，代谢产物蓄积导致多系统损害，致残率及致死率极高。本文回顾我院新生儿科2020年2月8日收治的1例异戊酸血症新生儿的基本情况、发病经过、治疗过程、实验室检查结果及串联质谱及气相质谱结果等，分析新生儿异戊酸血症的临床特点及注意事项等，旨在提高临床医生对新生儿异戊酸血症的认识。遇到患儿纳差、呕吐、嗜睡、昏迷、抽搐、代谢性酸中毒、酮症、高血氨、低钙、高血糖、白细胞降低、血小板减少等多种表现，或用其他疾病无法解释时，应考虑到异戊酸血症的可能，尽早作串联质谱及气相质谱技术检查，以早期诊断、早期治疗，减少病死率及伤残率。

    [关键词] 异戊酸血症;串联质谱法;新生儿筛查;遗传性疾病

    [中图分类号] R722.1? ? ? ? ? [文献标识码] C? ? ? ? ? [文章编号] 1673-9701(2021)33-0162-03

    [Abstract] Neonatal isovaleric acidemia(IVA) lacks specific clinical manifestations and early diagnosis is difficult. If IVA is not diagnosed and treated as early as possible，the accumulation of metabolites will lead to multi-system damage，with extremely high disability rate and mortality rate. In this paper，the basic condition，onset course，treatment process，laboratory examination results，tandem mass spectrometry and gas phase mass spectrometry results were reviewed in a newborn with IVA admitted to our hospital′s neonatal department on February 8，2020. The clinical characteristics and precautions of neonatal IVA were analyzed in order to improve clinicians′ understanding of neonatal IVA. If the child develops anorexia ......