title: Defect in fatty acid oxidation: laboratory and pathologic findings in a patient.
abstract: The clinical, laboratory, and pathologic findings in a patient with a previously undescribed deficiency in fatty acid oxidation are summarized. The patient had a fatal defect in fatty acid metabolism profoundly affecting heart, skeletal muscle, liver, and kidney. Oxidation of palmitate was 38-51% of controls. Complementation assays demonstrated that the patient's fibroblasts complemented fibroblast lines from all known defects in fatty acid oxidation except long-chain acyl-CoA dehydrogenase deficiency. Urine and serum carnitine profiles also were indicative of a defect in the oxidation of long-chain substrate; however, the palmitoyl-CoA dehydrogenase activity was actually increased. This finding indicates that the patient had a defect that was distinct from, but possibly related to, long-chain acyl-CoA dehydrogenase deficiency. This patient demonstrates the laboratory and pathologic findings in defects in fatty acid oxidation and how they differ from those in Reye syndrome.
authors.affiliation: Department of Pediatrics, Pritzker Medical School, University of Chicago, Illinois 60637.
authors.forename: J H
authors.initials: JH
authors.lastname: Tonsgard
authors.forename: J K
authors.initials: JK
authors.lastname: Stephens
authors.forename: W J
authors.initials: WJ
authors.lastname: Rhead
authors.forename: D
authors.initials: D
authors.lastname: Penn
authors.forename: A L
authors.initials: AL
authors.lastname: Horwitz
authors.forename: B S
authors.initials: BS
authors.lastname: Kirschner
authors.forename: P F
authors.initials: PF
authors.lastname: Whitington
authors.forename: S
authors.initials: S
authors.lastname: Berger
authors.forename: M E
authors.initials: ME
authors.lastname: Tripp
mesh_terms: D044942:Acyl-CoA Dehydrogenase, Long-Chain / Q000172:deficiency*; D002331:Carnitine / Q000097:blood / Q000652:urine; D005227:Fatty Acids / Q000378:metabolism*; D005260:Female; D006801:Humans; D007223:Infant; D008052:Lipid Metabolism, Inborn Errors / Q000378:metabolism* / Q000473:pathology; D008099:Liver / Q000378:metabolism / Q000473:pathology; D008854:Microscopy, Electron; D009132:Muscles / Q000378:metabolism / Q000473:pathology / Q000648:ultrastructure; D009206:Myocardium / Q000378:metabolism / Q000473:pathology; D010084:Oxidation-Reduction; D010168:Palmitates / Q000378:metabolism
chemical_list: D005227:Fatty Acids; D010168:Palmitates; D044942:Acyl-CoA Dehydrogenase, Long-Chain; D002331:Carnitine