کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
3250778 1589218 2006 4 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Sudden death in a young woman from medium chain acyl-coenzyme A dehydrogenase (MCAD) deficiency
موضوعات مرتبط
علوم پزشکی و سلامت پزشکی و دندانپزشکی طب اورژانس
پیش نمایش صفحه اول مقاله
Sudden death in a young woman from medium chain acyl-coenzyme A dehydrogenase (MCAD) deficiency
چکیده انگلیسی

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.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: The Journal of Emergency Medicine - Volume 30, Issue 3, April 2006, Pages 291–294
نویسندگان
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