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

• Published in: Journal of forensic sciences 2015-07, Vol.60 (4), p.1101-1103
• Main Authors: Randall, Morgan, Rolf, Cristin, Gibson, Stephanie Mayfield, Hall, Patricia L., Rinaldo, Piero, Davis, Gregory J.
• Format: Article
• Language: English
• Subjects: Acyl-CoA Dehydrogenase - deficiency; Adult; cathinone; Confusion - etiology; Dehydrogenases; Diagnosis, Differential; Drug use; Fatty Liver - pathology; forensic science; Forensic sciences; hallucinations; Hallucinations - etiology; Humans; inborn error; lipid metabolism; Lipid Metabolism, Inborn Errors - diagnosis; liver steatosis; Male; medium‐chain acyl‐CoA dehydrogenase deficiency; Mental disorders; Patients; Psychomotor Agitation - etiology; Substance-Related Disorders - diagnosis; Toxicology
• ISSN: 0022-1198; 1556-4029
• DOI: 10.1111/1556-4029.12808

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.