A new defect of peroxisomal function involving pristanic acid: a case report. Issue 3 (1st March 2002)

• Record Type: Journal Article
• Authors: McLean, B N; Allen, J; Ferdinandusse, S; Wanders, R J A
• Is Part Of: Journal of neurology, neurosurgery and psychiatry. Volume 72:Issue 3(2002)
• Page Start: 396
• Page End: 399
• Publication Date: 2002-03-01
• Subjects: pristanic acid -- peroxisome -- retinitis pigmentosa -- α-methylacyl-coA racemase; VLCFA, very long chain fatty acids -- DHCA/THCA, dihydroxycholestanoic/trihydroxycholestanoic acid -- AMACR, α-methylacyl-CoA racemase; Neurology -- Periodicals; Nervous system -- Surgery -- Periodicals; Psychiatry -- Periodicals; 616.8
• DOI: 10.1136/jnnp.72.3.396
• Languages: English
• ISSNs: 0022-3050

Abstract

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.