期刊
JOURNAL OF EMERGENCY MEDICINE
卷 30, 期 3, 页码 291-294出版社
ELSEVIER SCIENCE INC
DOI: 10.1016/j.jemermed.2005.05.030
关键词
MCAD; metabolic; fatty acids
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. (c) 2006 Elsevier Inc.
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