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

Forensic Sci Int. 2011 Jul 15;210(1-3):e1-3. doi: 10.1016/j.forsciint.2011.04.003. Epub 2011 Apr 30.

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.

Publication types

  • Case Reports

MeSH terms

  • Acyl-CoA Dehydrogenase, Long-Chain / deficiency
  • Acyl-CoA Dehydrogenase, Long-Chain / genetics
  • Congenital Bone Marrow Failure Syndromes
  • Consanguinity
  • Diagnosis, Differential
  • Exons
  • Female
  • Forensic Genetics
  • Heart Septal Defects / diagnostic imaging
  • Heart Septal Defects / etiology
  • Humans
  • Hypertrophy, Left Ventricular / diagnostic imaging
  • Hypertrophy, Left Ventricular / etiology
  • Infant, Newborn
  • Infanticide
  • Lipid Metabolism, Inborn Errors
  • Metabolism, Inborn Errors / diagnosis*
  • Metabolism, Inborn Errors / genetics
  • Mitochondrial Diseases / diagnosis*
  • Mitochondrial Diseases / genetics
  • Muscular Diseases / diagnosis*
  • Muscular Diseases / genetics
  • Mutation
  • Pedigree
  • Ultrasonography

Substances

  • Acyl-CoA Dehydrogenase, Long-Chain

Supplementary concepts

  • VLCAD deficiency