ETFDH基因变异导致晚发型多种酰基辅酶A脱氢酶缺乏症1例并文献复习

Late onset multiple acyl-CoA dehydrogenase deficiency caused by ETFDH gene mutation:a case report and literature review

目的探讨晚发型多种酰基辅酶A脱氢酶缺乏症(multiple acyl-CoA dehydrogenase deficiency,MADD)临床特征和基因特点,加强对MADD的认识。方法回顾性分析2020年2月就诊于首都儿科研究所附属儿童医院的1例MADD患儿的临床资料,并复习相关文献。结果患儿,女,12岁,以反复呕吐5个月、双下肢乏力2个月为主要表现,伴体重显著减轻。血生化检查提示转氨酶升高,乳酸脱氢酶、肌酸激酶同工酶升高;氨基酸肉碱质谱分析提示多种酰基辅酶A脱氢酶缺乏症;腹部计算机断层扫描(computed tomography,CT)提示脂肪肝;肌肉磁共振成像(magnetic resonance imaging,MRI)提示肌炎。基因检测发现ETFDH基因存在7号外显子c.736G>A和3号外显子c.389A>T复合杂合突变,确诊为MADD。予核黄素、左卡尼汀治疗后好转。随访6个月无呕吐,肌力恢复正常,血生化指标正常。结论晚发型MADD临床表现多样,基因检查可以帮助确诊MADD,核黄素对晚发型MADD治疗有效。

Objective To explore the clinical and genetic characteristics of late onset multiple acyl-Co A dehydrogenase deficiency(MADD),then have a better understanding of MADD.Method Clinical data of MADD in a child was retrospectively analyzed,and related literature was reviewed.Result A 12-years-old female,recurrent vomiting for 5 months and lower limb weakness for 2 months were performed,with significant weight loss.The blood biochemical tests revealed transaminase,LDH and CK increased,Amino acid and carnitine spectrum indicate that the patient may be suffering multiple acyl-Co A dehydrogenase deficiency.CT showed fatty liver,and muscle MRI showed myositis.Genetic testing showed that there were compound heterozygous mutations in exon 7 c.736g> A and exon 3 c.389a>t in ETFDH gene,and then diagnosed the illness as MADD.The patient were treated with riboflavin and levocarnitine,and transaminase were improved or recovered to normal level with the improvement of clinical symptom after half a year’s treatment and follow-up.Conclusion Clinical manifestations of MADD in children are complex and varied.Definitive diagnosis can be achieved by gene analysis.Riboflavin therapy is effective for MADD.