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

B.N. McLean; J. Allen; S. Ferdinandusse; R.J.A. Wanders

doi:https://doi.org/10.1136/jnnp.72.3.396

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

B.N. McLean, J. Allen, S. Ferdinandusse, R.J.A. Wanders

Paediatric Metabolic Diseases (AMC)

Research output: Contribution to journal › Article › Academic › peer-review

24 Citations (Scopus)

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

Original language	Undefined/Unknown
Pages (from-to)	396-399
Journal	Journal of Neurology, Neurosurgery and Psychiatry
Volume	72
Issue number	3
DOIs	https://doi.org/10.1136/jnnp.72.3.396
Publication status	Published - 2002

Keywords

AMC wi-buiten

Access to Document

https://doi.org/10.1136/jnnp.72.3.396

https://pure.uva.nl/ws/files/3765967/22060_107717y.pdf

Cite this

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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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AU - Allen, J.

AU - Ferdinandusse, S.

AU - Wanders, R.J.A.

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N2 - 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

AB - 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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