Wilhelm Ginger W
Department of Emergency Medicine, University of Texas Health Sciences Center, 6431 Fannin JJL Bldg. #431, Houston, TX 77030, USA.
J Emerg Med. 2006 Apr;30(3):291-4. doi: 10.1016/j.jemermed.2005.05.030.
Medium chain acyl-coenzyme A dehydrogenase (MCAD) deficiency is an inherited disorder of fatty acid metabolism that usually presents in early childhood. This case report describes a 19-year-old woman who presented with lethargy, disorientation, and vomiting. She had a cardiopulmonary arrest from which she could not be resuscitated 24h after the onset of the illness. Pre-mortem blood studies confirmed MCAD deficiency. An MCAD deficiency and other metabolic disorders lie within the differential diagnosis of a patient presenting with acutely altered mental status. The inheritance of MCAD deficiency and its clinical presentation, pathophysiology, treatment, and prevention are discussed.
中链酰基辅酶A脱氢酶（MCAD）缺乏症是一种脂肪酸代谢的遗传性疾病，通常在儿童早期出现。本病例报告描述了一名19岁女性，她出现嗜睡、定向障碍和呕吐症状。发病24小时后，她发生了心脏骤停，无法复苏。死前血液检查确诊为MCAD缺乏症。MCAD缺乏症和其他代谢紊乱属于急性精神状态改变患者鉴别诊断的范畴。本文讨论了MCAD缺乏症的遗传方式及其临床表现、病理生理学、治疗和预防。
