Wongkittichote Parith, Watson James R, Leonard Jennifer M, Toolan Elizabeth R, Dickson Patricia I, Grange Dorothy K
Division of Genetics and Genomic Medicine, Department of Pediatrics Washington University School of Medicine St Louis Missouri USA.
Division of Hospital Medicine, Department of Medicine Washington University School of Medicine St Louis Missouri USA.
JIMD Rep. 2020 Sep 10;56(1):40-45. doi: 10.1002/jmd2.12165. eCollection 2020 Nov.
Long-chain fatty-acyl CoA dehydrogenase deficiency (LCHADD) is an inborn error of long chain fatty acid oxidation with various features including hypoketotic hypoglycemia, recurrent rhabdomyolysis, pigmentary retinopathy, peripheral neuropathy, cardiomyopathy, and arrhythmias. Various stresses trigger metabolic decompensation. Coronavirus disease 2019 (COVID-19) is a pandemic caused by the RNA virus SARS-CoV-2 with diverse presentations ranging from respiratory symptoms to myocarditis. We report a case of a patient with LCHADD who initially presented with typical metabolic decompensation symptoms including nausea, vomiting, and rhabdomyolysis in addition to mild cough, and was found to have COVID-19. She developed acute respiratory failure and refractory hypotension from severe cardiomyopathy which progressed to multiple organ failure and death. Our case illustrates the need for close monitoring of cardiac function in patients with a long-chain fatty acid oxidation disorder.
长链脂肪酰辅酶A脱氢酶缺乏症（LCHADD）是一种长链脂肪酸氧化的先天性代谢缺陷病，具有多种特征，包括低酮性低血糖、复发性横纹肌溶解、色素性视网膜病变、周围神经病变、心肌病和心律失常。各种应激因素会引发代谢失代偿。2019冠状病毒病（COVID-19）是由RNA病毒SARS-CoV-2引起的大流行病，临床表现多样，从呼吸道症状到心肌炎。我们报告一例LCHADD患者，最初除轻度咳嗽外，还出现典型的代谢失代偿症状，包括恶心、呕吐和横纹肌溶解，并被诊断为COVID-19。她因严重心肌病发展为急性呼吸衰竭和难治性低血压，进而进展为多器官功能衰竭并死亡。我们的病例表明，对于长链脂肪酸氧化障碍患者，需要密切监测心脏功能。
