title: Pristanic acid does not accumulate in peroxisomal acyl-CoA oxidase deficiency: evidence for a distinct peroxisomal pristanyl-CoA oxidase.
abstract: The concentration of pristanic acid was measured in plasma from a patient with an isolated peroxisomal very long chain fatty acid (VLCFA) acyl-CoA oxidase deficiency, a defect in peroxisomal beta-oxidation resulting in accumulation of VLCFA in plasma and tissues. Although peroxisomes are believed to be involved in pristanic acid beta-oxidation, the pristanic acid level in the patient's plasma was within the control range. This finding provides evidence for the existence of a pristanyl-CoA oxidase distinct from the specific trihydroxycholestanoyl-CoA and VLCFA acyl-CoA oxidases.
authors.affiliation: Department of Paediatrics, Free University Hospital, Amsterdam, The Netherlands.
authors.forename: H J
authors.initials: HJ
authors.lastname: ten Brink
authors.forename: B T
authors.initials: BT
authors.lastname: Poll-The
authors.forename: J M
authors.initials: JM
authors.lastname: Saudubray
authors.forename: R J
authors.initials: RJ
authors.lastname: Wanders
authors.forename: C
authors.initials: C
authors.lastname: Jakobs
mesh_terms: D042962:Acyl-CoA Oxidase; D005227:Fatty Acids / Q000378:metabolism*; D006801:Humans; D008830:Microbodies / Q000201:enzymology*; D010084:Oxidation-Reduction; D010088:Oxidoreductases / Q000172:deficiency* / Q000378:metabolism*; D010831:Phytanic Acid / Q000097:blood
chemical_list: D005227:Fatty Acids; D010831:Phytanic Acid; C002844:pristanic acid; D010088:Oxidoreductases; C066272:pristanoyl-CoA oxidase; D042962:Acyl-CoA Oxidase