title: Medium chain acyl-CoA dehydrogenase deficiency and fatal valproate toxicity.
abstract: A boy with delayed psychomotor development, attention deficit disorder, and therapy-resistant epilepsy was treated with valproate. The patient died of liver failure after 4 months of valproate treatment. Postmortem investigation of cultured fibroblasts suggested medium chain acyl-CoA dehydrogenase deficiency, an unexpected finding since the boy had not presented typical manifestations of this disease. Because medium chain acyl-CoA dehydrogenase is an important enzyme in the beta-oxidation of fatty acids, our patient probably had a genetically reduced tolerance to valproate. This drug should be omitted in the treatment of seizures in patients with possible medium chain acyl-CoA dehydrogenase deficiency.
authors.affiliation: Department of Pediatrics, Haukeland University Hospital, Bergen, Norway.
authors.forename: P R
authors.initials: PR
authors.lastname: Njølstad
authors.forename: O H
authors.initials: OH
authors.lastname: Skjeldal
authors.forename: E
authors.initials: E
authors.lastname: Agsteribbe
authors.forename: A
authors.initials: A
authors.lastname: Huckriede
authors.forename: E
authors.initials: E
authors.lastname: Wannag
authors.forename: O
authors.initials: O
authors.lastname: Søvik
authors.forename: P E
authors.initials: PE
authors.lastname: Waaler
mesh_terms: D042964:Acyl-CoA Dehydrogenase; D044944:Acyl-CoA Dehydrogenases / Q000172:deficiency*; D000927:Anticonvulsants / Q000009:adverse effects*; D002478:Cells, Cultured; D002648:Child; D004830:Epilepsy, Tonic-Clonic / Q000188:drug therapy* / Q000201:enzymology; D017809:Fatal Outcome; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D017093:Liver Failure / Q000139:chemically induced* / Q000201:enzymology; D008297:Male; D012867:Skin / Q000166:cytology / Q000201:enzymology; D014635:Valproic Acid / Q000009:adverse effects*
chemical_list: D000927:Anticonvulsants; D014635:Valproic Acid; D044944:Acyl-CoA Dehydrogenases; D042964:Acyl-CoA Dehydrogenase