Scott Schwoerer Jessica, Cooper Gena, van Calcar Sandra
Department of Pediatrics, University of Wisconsin, Madison, WI, USA.
Department of Molecular and Medical Genetics, School of Medicine and Public Health, Oregon Health and Science University, Portland, OR, USA.
Mol Genet Metab Rep. 2015 Mar 30;3:39-41. doi: 10.1016/j.ymgmr.2015.03.003. eCollection 2015 Jun.
Very long chain acyl CoA dehydrogenase deficiency (VLCADD) is an inborn error in long chain fatty acid oxidation with significant variability in the severity and timing of its clinical presentation. Neonatal presentations of VLCADD have included hypoglycemia and cardiomyopathy while rhabdomyolysis is usually a later onset complication. We describe a neonate with VLCADD presenting with rhabdomyolysis prior to the return of an abnormal newborn screen. This report suggests that evaluating for rhabdomyolysis, in addition to a cardiac and hepatic work-up, is an important part of the initial evaluation of an infant with an abnormal newborn screen suggesting a diagnosis of VLCADD.
极长链酰基辅酶A脱氢酶缺乏症（VLCADD）是一种长链脂肪酸氧化的先天性疾病，其临床表现的严重程度和出现时间存在显著差异。VLCADD的新生儿表现包括低血糖和心肌病，而横纹肌溶解通常是较晚出现的并发症。我们描述了一名患有VLCADD的新生儿，在新生儿筛查结果异常之前就出现了横纹肌溶解。本报告表明，除了进行心脏和肝脏检查外，评估横纹肌溶解是对新生儿筛查异常提示VLCADD诊断的婴儿进行初始评估的重要组成部分。
