Very long-chain acyl CoA dehydrogenase deficiency which was accepted as infanticide

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• 作者：Tuba F. Eminoglu ; ^a ; ^{tubaeminoglu@yahoo.com"" rel=""nofollow} ; Leyla Tumer^a ; Ilyas Okur^a ; Fatih S. Ezgu^a ; Gursel Biberoglu^a ; Alev Hasanoglu^a
• 关键词：Very long-chain acyl-CoA dehydrogenase deficiency ; Sudden death ; Postmortem screening
• 刊名：Forensic Science International
• 出版年：2011
• 出版时间：15 July 2011
• 年：2011
• 卷：210
• 期：1-3
• 页码：e1-e3
• 全文大小：176 K

文摘

Very-long-chain acyl-coenzyme A (CoA) dehydrogenase deficiency (VLCADD) (OMIM #201475) is an autosomal recessive disorder of fatty acid oxidation. Major phenotypic expressions are hypoketotic hypoglycemia, hepatomegaly, cardiomyopathy, myopathy, rhabdomyolysis, elevated creatinine kinase, and lipid infiltration of liver and muscle. At the same time, it is a rare cause of Sudden Infant Death Syndrome (SIDS) or unexplained death in the neonatal period [1], [2], [3] and [4]. We report a patient with VLCADD whose parents were investigated for infanticide because her three previous siblings had suddenly died after normal deliveries.