Sudden death in a young woman from medium chain acyl-coenzyme A dehydrogenase (MCAD) deficiency
2006; Elsevier BV; Volume: 30; Issue: 3 Linguagem: Inglês
10.1016/j.jemermed.2005.05.030
ISSN2352-5029
Autores Tópico(s)Hyperglycemia and glycemic control in critically ill and hospitalized patients
ResumoMedium 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.
Referência(s)