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

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.