Sudden death in a young woman from medium chain acyl-coenzyme A dehydrogenase (MCAD) deficiency.
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.
Wilhelm
Ginger W
GW
Department of Emergency Medicine, University of Texas Health Sciences Center, 6431 Fannin JJL Bldg. #431, Houston, TX 77030, USA.