Medium-Chain Acyl-CoA Dehydrogenase Deficiency in Adulthood: A Potential Diagnosis in a Patient with Mental Status Changes Suspected of Drug Toxicity

J Forensic Sci. 2015 Jul;60(4):1101-3. doi: 10.1111/1556-4029.12808.

Abstract

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is a rare but important component of the differential diagnosis for adults with a history of premortem mental status changes and the postmortem finding of hepatic steatosis. This case report describes a 30-year-old white man who, following a period of nausea and vomiting, was admitted to the hospital with sudden mental status deterioration followed rapidly by clinical deterioration and death. Treating physicians in this case suspected acute illicit drug toxicity with synthetic cathinones based on social history. Clinicians and medical examiners should be aware that the presentation, signs, and symptoms described may indicate an underlying inborn error of metabolism such as MCAD deficiency and take action accordingly.

Keywords: cathinone; forensic science; hallucinations; inborn error; lipid metabolism; liver steatosis; medium-chain acyl-CoA dehydrogenase deficiency.

Publication types

  • Case Reports

MeSH terms

  • Acyl-CoA Dehydrogenase / deficiency*
  • Adult
  • Confusion / etiology*
  • Diagnosis, Differential
  • Fatty Liver / pathology
  • Hallucinations / etiology*
  • Humans
  • Lipid Metabolism, Inborn Errors / diagnosis*
  • Male
  • Psychomotor Agitation / etiology*
  • Substance-Related Disorders / diagnosis

Substances

  • Acyl-CoA Dehydrogenase

Supplementary concepts

  • Medium chain acyl CoA dehydrogenase deficiency