title: A new defect of peroxisomal function involving pristanic acid: a case report.
abstract: AN adult onset novel disorder of peroxisomal function is described, characterised by retinitis pigmentosa resulting in progressive visual failure, learning difficulties, a peripheral neuropathy, and hypogonadism. The defect results in accumulation of pristanic acid, and the bile acid intermediates, dihydroxycholestanoic and trihydroxycholestanoic acid, and is due to a deficiency of alpha-methylacyl-CoA racemase, making this the first fully characterised description of this defect. Screening of patients with retinitis pigmentosa should be extended to include pristanic acid and/or bile acid intermediate concentrations, as dietary measures offer a potential treatment for the disorder.
authors.affiliation: Department of Neurology, Royal Cornwall Hospital, Treliske, Truro, Cornwall TR1 3LJ, UK.
authors.forename: B N
authors.initials: BN
authors.lastname: McLean
authors.forename: J
authors.initials: J
authors.lastname: Allen
authors.forename: S
authors.initials: S
authors.lastname: Ferdinandusse
authors.forename: R J A
authors.initials: RJ
authors.lastname: Wanders
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics; D002869:Chromosome Aberrations; D005227:Fatty Acids / Q000097:blood*; D005808:Genes, Recessive / Q000235:genetics; D006801:Humans; D007859:Learning Disabilities / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics; D008297:Male; D008875:Middle Aged; D018901:Peroxisomal Disorders / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics; D019998:Racemases and Epimerases / Q000172:deficiency*; D012174:Retinitis Pigmentosa / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics
chemical_list: D005227:Fatty Acids; C002844:pristanic acid; D019998:Racemases and Epimerases; C108352:alpha-methylacyl-CoA racemase