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Updated: Jul 20, 2026

Monitoring Stub1-Mediated Pexophagy
Published on: May 12, 2023
A new defect of peroxisomal function involving pristanic acid: a case report
B N McLean1, J Allen, S Ferdinandusse
1Department of Neurology, Royal Cornwall Hospital, Treliske, Truro, Cornwall TR1 3LJ, UK.
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.
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