以低血糖和高乳酸血症为首发症状的极长链酰基辅酶A脱氢酶缺乏症  

Very long chain acyl-CoA dehydrogenase deficiency with the initial manifestations of hypoglycemia and hyperlactinemia

作　　者：李鑫[1] 王薇[1] 刘学芳 马贵林[1] 孙素真[1] LI Xin;WANG Wei;LIU Xuefang;MA Guilin;SUN Suzhen(Department of Neurology,Children’s Hospital of Hebei Province,Shijiazhuang,Hebei 050013,China)

机构地区：[1]河北省儿童医院神经内科,河北石家庄050013

出　　处：《中国优生与遗传杂志》2021年第2期170-173,共4页Chinese Journal of Birth Health & Heredity

摘　　要：目的极长链酰基辅酶A脱氢酶缺乏症(very long chain acyl-CoA dehydrogenase deficiency,VLCADD)是一种罕见的线粒体脂肪酸β氧化障碍。VLCADD患者的临床表型具有异质性。本文就1例以低血糖和高乳酸血症为首发症状,迅速出现心力衰竭的婴儿VLCADD进行回顾性总结。方法回顾患儿临床特点及诊治过程,并总结临床表现与血生化、代谢改变、遗传学特点的关系。结果患儿,男,3月龄,急性起病,以低血糖、高乳酸血症为首发症状,在治疗过程中进行性加重,迅速出现心力衰竭死亡。尿代谢筛查:乳酸尿伴4-羟基苯乳酸增高,酮体及双羧酸也略有增高,全外显子组测序发现患者ACADVL等位基因上1个父源的错义突变:c.1532G>A(p.R511Q),以及1个母源的移码突变:c.259272delGTGTTCCCATACCCinsT(p.V87Cfs*26),患儿姐姐仅携带母源的移码突变,该位点尚未见报道。结论婴儿以低血糖、高乳酸血症为首发症状表现的VLCADD并不多见,易与Reye综合征、有机酸代谢病、病毒性心肌炎等混淆。对于VLCADD可疑病例应对患者及家族成员及早进行相关基因测序,明确其基因型,并实施生育指导。Objective Very long-chain acyl-coenzyme A dehydrogenase deficiency(VLCADD)is a very rare mitochondrial fatty acid-oxidation disorder.The phenotype of VLCADD is heterogeneous.Now a retrospective summary of VLCADD in an infant with hypoglycemia and hyperlactemia as the first manifestation and rapid heart failure.Methods Review the clinical characteristics,the process of diagnosis and treatment in children.Summarize the relationship between clinical manifestations,blood biochemical,metabolic changes,and genetic characteristics.Results The infant,male,3 months old,had an acute onset,with hypoglycemia,hyperlactinemia as the initial symptoms,which gradually worsened in the course of treatment,and died of heart failure rapidly.Urine metabolism screening:lactateuria was accompanied by increased 4-hydroxyphenyllactic acid,and slightly increased ketone bodies and dicarboxylic acids.Whole-exome sequencing revealed a paternal missense mutation:c.1532 G>A(p.R511 Q),and a maternal frameshift mutation:c.259272 delGTGTTCCCATACCCinsT(p.V87 Cfs*26)in the patient’s ACADV allele.The sister of the patient only carries a maternal frameshift mutation.Conclusion VLCADD in infants with hypoglycemia and hyperlactemia as the first manifestations is rare,and can be easily confused with Reye syndrome,organic acid metabolism disease,and viral myocarditis.For suspicious cases of VLCADD,patients and family members should be sequenced early to confirm their genotypes,and fertility guidance should be implemented.

关 键 词：低血糖 高乳酸血症 心力衰竭 极长链酰基辅酶A脱氢酶缺乏症 ACADVL基因 复合杂合突变 

分 类 号：R725.9[医药卫生—儿科]