A new defect of peroxisomal function involving pristanic acid: a case report
- 1Department of Neurology, Royal Cornwall Hospital, Treliske, Truro, Cornwall TR1 3LJ, UK
- 2Department of Clinical Biochemistry, Southmead Hospital, Bristol BS10 5NB, UK
- 3Laboratory of Genetic Metabolic Diseases, Emma Children's Hospital AMC, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands
- Correspondence to: Dr B N McLean, Department of Neurology, Royal Cornwall Hospital, Treliske, Truro, Cornwall TR1 3LJ, UK
- Received 12 September 2000
- Accepted 23 October 2001
- Revised 26 September 2001
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 α-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.
- VLCFA, very long chain fatty acids
- DHCA/THCA, dihydroxycholestanoic/trihydroxycholestanoic acid
- AMACR, α-methylacyl-CoA racemase
