极长链酰基辅酶A脱氢酶缺乏症1例报告并文献复习
Journal of Clinical Pediatrics(2013)
Abstract
目的:提高对极长链酰基辅酶A脱氢酶缺乏症(VLCADD)临床特征的认识。方法总结1例VLCADD患儿的临床表现、诊断和治疗过程,并综合文献进行分析。结果患儿,女,7个月,表现为频繁发作的呕吐、呕血、双眼凝视,窦性心动过速,低血糖,肝功能及心肌酶异常,最终因症状频繁发作,放弃治疗而死亡。血尿串联质谱分析证实患儿为VLCADD,未行基因检测。结论 VLCADD为婴儿期潜在猝死性疾病之一,需要早期诊断与治疗。
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Key words
very long chain acyl-CoA dehydrogenase,diagnosis,infant
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