title: Human trifunctional protein deficiency: a new disorder of mitochondrial fatty acid beta-oxidation.
abstract: In this paper we report the identification of a new disorder of mitochondrial fatty acid beta-oxidation in a patient which presented with clear manifestations of a mitochondrial beta-oxidation disorder. Subsequent studies in fibroblasts revealed an impairment in palmitate beta-oxidation and in addition, a combined deficiency of long-chain enoyl-CoA hydratase, long-chain 3-hydroxyacyl-CoA-dehydrogenase and long-chain 3-oxoacyl-CoA thiolase. The recent identification of a multifunctional, membrane-bound beta-oxidation enzyme protein catalyzing all these three enzyme activities (Carpenter et al. (1992) Biochem. Biophys. Res. Commun. 183, 443-448; Uchida et al. (1992) J. Biol. Chem. 267, 1034-1041) suggested an underlying basis for this peculiar combination of three enzyme deficiencies. We show by means of size-exclusion chromatography that there is, indeed, a deficiency of the multifunctional beta-oxidation enzyme protein in this patient.
authors.affiliation: Department of Clinical Biochemistry, University Hospital Amsterdam, The Netherlands.
authors.forename: R J
authors.initials: RJ
authors.lastname: Wanders
authors.forename: L
authors.initials: L
authors.lastname: IJlst
authors.forename: F
authors.initials: F
authors.lastname: Poggi
authors.forename: J P
authors.initials: JP
authors.lastname: Bonnefont
authors.forename: A
authors.initials: A
authors.lastname: Munnich
authors.forename: M
authors.initials: M
authors.lastname: Brivet
authors.forename: D
authors.initials: D
authors.lastname: Rabier
authors.forename: J M
authors.initials: JM
authors.lastname: Saudubray
mesh_terms: D015094:3-Hydroxyacyl CoA Dehydrogenases / Q000235:genetics; D000102:Acetyl-CoA C-Acyltransferase / Q000235:genetics; D002675:Child, Preschool; D004746:Enoyl-CoA Hydratase / Q000235:genetics; D005227:Fatty Acids / Q000378:metabolism*; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D008052:Lipid Metabolism, Inborn Errors / Q000378:metabolism*; D008928:Mitochondria / Q000378:metabolism*; D008970:Molecular Weight; D009097:Multienzyme Complexes / Q000235:genetics*; D010084:Oxidation-Reduction
chemical_list: D005227:Fatty Acids; D009097:Multienzyme Complexes; D015094:3-Hydroxyacyl CoA Dehydrogenases; D000102:Acetyl-CoA C-Acyltransferase; D004746:Enoyl-CoA Hydratase