A retrospective analysis was conducted on the clinical data of a child with myopathy of very long-chain acyl-CoA dehydrogenase deficiency（VLCADD） admitted to the Department of Pediatrics of Shengjing Hospital，China Medical University in October 2024. And review the relevant literature to summarize the characteristics such as the onset，diagnosis and treatment process，and genetic testing results of children with myopathy VLCADD. The patient，a 6-year-old girl，presented with recurrent episodes of skeletal muscle involvement，including myalgia and muscle weakness triggered by infection or physical exertion during school age. Laboratory findings revealed markedly elevated serum creatine kinase（CK） levels. Tandem mass spectrometry demonstrated elevated levels of C14∶1 and multiple long-chain acylcarnitines. Genetic testing identified compound heterozygous mutations in the ACADVL gene：c.1276G>A and c.637G>A，confirming the diagnosis of myopathic VLCADD. Literature analysis identified 40 pediatric myopathic VLCADD cases. A total of 54 ACADVL gene variants were detected，encompassing 45 distinct mutation types. All cases exhibited favorable prognoses，with no reported fatalities.

对2024年10月中国医科大学盛京医院儿科收治的极长链酰基辅酶A脱氢酶缺乏症（very long-chain acyl-CoA dehydrogenase deficiency，VLCADD）肌病型患儿1例的临床资料进行回顾，并检索相关文献，归纳肌病型VLCADD患儿发病、诊治及基因型等方面的特点。患儿女，6岁。学龄期起病，多次于感染或运动后出现肌痛、肌无力等骨骼肌受累症状，查肌酸激酶显著增高，串联质谱检测酰基肉碱可见C14∶1及多种长链酰基肉碱增高。基因检测发现患儿极长链酰基辅酶A脱氢酶（acyl-CoA dehydrogenase very long chain，ACADVL）基因存在c.1276G>A及c.637G>A复合杂合突变，诊断为 VLCADD（肌病型）。检索文献，收集到肌病型儿童极长链辅酶A脱氢酶缺乏症40例，共检出54处ACADVL基因的变异，涉及45种变异类型，预后良好，无死亡病例。

极长链酰基辅酶A脱氢酶缺乏症, ACADAL基因, 儿童, 肌病型, 遗传代谢性疾病