极长链酰基辅酶A脱氢酶缺乏症1例并文献复习  

Very Long Chain Acyl-CoA Dehydrogenase Deficiency: a Case Report and Review of the Literature

作　　者：孙小兰 车圆圆 章静静[1] 钟建民[1] SUN Xiao-lan;CHE Yuan-yuan;ZHANG Jing-jing;ZHONG Jian-min(Department of Neurology,Jiangxi Provincial Children’s Hospital,Nanchang 330006,China)

机构地区：[1]江西省儿童医院神经内科

出　　处：《实用临床医学（江西）》2019年第3期40-43,共4页Practical Clinical Medicine

摘　　要：目的探讨儿童极长链酰基辅酶A脱氢酶缺乏症(very long chain acyl-CoA dehydrogenase deficiency,VLCADD)的临床特征。方法总结1例VLCADD患儿的临床表现、诊断、治疗过程并结合相关文献进行分析。结果患儿,女, 4岁7个月,表现为反复发作的呕吐、嗜睡、低血糖,肝功能及心肌酶异常,经静脉推注高糖纠正低血糖及护肝降酶等保护脏器及心肺复苏、安定止惊治疗后好转,出院时患儿血糖正常,生命体征平稳。血串联质谱及尿有机酸气相质谱检测分析证实患儿为VLCADD。结论VLCADD为婴幼儿期潜在猝死性疾病之一,需要早期诊断与治疗,预防发作。临床诊断可通过血串联质谱检测血肉豆蔻烯酰基肉碱(C14:1)水平及尿有机酸气相质谱检测二羧酸进行,进一步确诊可通过基因诊断或酶学分析。治疗主要包括避免空腹,减少长链脂肪酸的摄入,补充中链甘油三酯等。肝病型VLCADD予少量多餐喂养,控制低血糖发作,预后良好。Objective To explore the clinical features of very long chain acyl-CoA dehydrogenase deficiency(VLCADD) in children. Methods Clinical manifestations and diagnostic and therapeutic process of a child with VLCADD were summarized.Furthermore,the related literature was reviewed. Results The female child aged 4 years and 7 months presented with recurrent vomiting,lethargy,hypoglycemia,abnormal liver function and myocardial enzymogram.The symptoms were improved after intravenous glucose injection,liver protection,cardiopulmonary resuscitation and valium treatment.At hospital discharge,the child had normal blood glucose level and stable vital signs.The VLCADD was confirmed by liquid chromatography tandem mass spectrometry for blood and gas mass spectrometry for organic acids in urine. Conclusion VLCADD is a potential cause of sudden death in infants.Early diagnosis and treatment are important for preventing the attack of VLCADD.The biochemical hallmarks of the disease were C14:1-camitine detected by tandem mass spectrometry and dicarboxylic acid determined by gas mass spectrometry of organic acids.Genetic or enzyme analysis can be used to make further confirmation.The treatment regimens include avoidance of fasting,restriction of long-chain fat acids and supplementation of medium-chain triglycerides.For liver disease type VLCADD,eating small amounts more frequently is beneficial to hypoglycemic control and good prognosis.

关 键 词：极长链酰基辅酶A脱氢酶缺乏症 诊断 治疗 

分 类 号：R725[医药卫生—儿科]