J Neurol Neurosurg Psychiatry 72:396-399 doi:10.1136/jnnp.72.3.396
  • Short report

A new defect of peroxisomal function involving pristanic acid: a case report

  1. B N McLean1,
  2. J Allen2,
  3. S Ferdinandusse3,
  4. R J A Wanders3
  1. 1Department of Neurology, Royal Cornwall Hospital, Treliske, Truro, Cornwall TR1 3LJ, UK
  2. 2Department of Clinical Biochemistry, Southmead Hospital, Bristol BS10 5NB, UK
  3. 3Laboratory of Genetic Metabolic Diseases, Emma Children's Hospital AMC, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands
  1. 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


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.


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