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

Tuba F Eminoglu1, Leyla Tumer, Ilyas Okur

  • 1Gazi University Hospital, Department of Pediatric Nutrition and Metabolism, Ankara, Turkey. tubaeminoglu@yahoo.com

Forensic Science International
|May 3, 2011
PubMed

Insights

Very-long-chain acyl-coenzyme A dehydrogenase deficiency (VLCADD) is a rare genetic disorder affecting fatty acid metabolism. This case highlights VLCADD as a potential cause of recurrent unexplained infant deaths, prompting investigation into genetic screening for affected families.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Very-long-chain acyl-coenzyme A dehydrogenase deficiency (VLCADD) is an autosomal recessive metabolic disorder.
  • It disrupts fatty acid oxidation, leading to severe clinical manifestations.
  • VLCADD is a rare but significant cause of sudden infant death syndrome (SIDS).

Observation:

  • A patient with VLCADD was identified.
  • The patient's parents faced accusations of infanticide due to the unexplained deaths of their three previous children.
  • The siblings' deaths occurred suddenly after normal deliveries.

Findings:

  • The reported patient's diagnosis of VLCADD provides a potential explanation for the siblings' sudden deaths.
  • This suggests a pattern of recurrent, undiagnosed VLCADD in the family.
  • The clinical presentation of VLCADD can be severe and present atypically.

Implications:

  • Early genetic screening for VLCADD in families with unexplained infant deaths is crucial.
  • Accurate diagnosis of VLCADD can prevent misattribution of death and unnecessary legal investigations.
  • Understanding the genetic basis of VLCADD aids in family counseling and management.

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