title: Medium-Chain Acyl-CoA Dehydrogenase Deficiency in Adulthood: A Potential Diagnosis in a Patient with Mental Status Changes Suspected of Drug Toxicity.
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.
authors.affiliation: University of Kentucky, Department of Pathology and Laboratory Medicine, Office of the Associate Chief Medical Examiner of the Commonwealth of Kentucky, Lexington, KY.
authors.forename: Morgan
authors.initials: M
authors.lastname: Randall
authors.affiliation: Division of Laboratory Services, Kentucky Department for Public Health, Frankfort, KY.
authors.forename: Cristin
authors.initials: C
authors.lastname: Rolf
authors.affiliation: Division of Laboratory Services, Kentucky Department for Public Health, Frankfort, KY.
authors.forename: Stephanie Mayfield
authors.initials: SM
authors.lastname: Gibson
authors.affiliation: Department of Human Genetics, Emory University, Atlanta, GA.
authors.forename: Patricia L
authors.identifier: http://orcid.org/0000-0001-9218-6233
authors.initials: PL
authors.lastname: Hall
authors.affiliation: Department of Laboratory Medicine and Pathology, Mayo Clinic, Frankfort, KY.
authors.forename: Piero
authors.initials: P
authors.lastname: Rinaldo
authors.affiliation: University of Kentucky, Department of Pathology and Laboratory Medicine, Office of the Associate Chief Medical Examiner of the Commonwealth of Kentucky, Lexington, KY.
authors.forename: Gregory J
authors.initials: GJ
authors.lastname: Davis
mesh_terms: D042964:Acyl-CoA Dehydrogenase / Q000172:deficiency*; D000328:Adult; D003221:Confusion / Q000209:etiology*; D003937:Diagnosis, Differential; D005234:Fatty Liver / Q000473:pathology; D006212:Hallucinations / Q000209:etiology*; D006801:Humans; D008052:Lipid Metabolism, Inborn Errors / Q000175:diagnosis*; D008297:Male; D011595:Psychomotor Agitation / Q000209:etiology*; D019966:Substance-Related Disorders / Q000175:diagnosis
chemical_list: D042964:Acyl-CoA Dehydrogenase
keywords: cathinone; forensic science; hallucinations; inborn error; lipid metabolism; liver steatosis; medium-chain acyl-CoA dehydrogenase deficiency