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


Eminoglu T. F. , TÜMER L. , OKUR İ. , EZGÜ F. S. , BİBEROĞLU G. , Hasanoglu A.

FORENSIC SCIENCE INTERNATIONAL, vol.210, 2011 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 210
  • Publication Date: 2011
  • Doi Number: 10.1016/j.forsciint.2011.04.003
  • Title of Journal : FORENSIC SCIENCE INTERNATIONAL

Abstract

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 [1-4]. We report a patient with VLCADD whose parents were investigated for infanticide because her three previous siblings had suddenly died after normal deliveries. (C) 2011 Elsevier Ireland Ltd. All rights reserved.