| Autor: |
McLean, B.N., Allen, J., Ferdinandusse, S., Wanders, R.J.A. |
| Zdroj: |
Journal of Neurology, Neurosurgery, & Psychiatry (JNNP); March 2002, Vol. 72 Issue: 3 p396-399, 4p |
| Abstrakt: |
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. |
| Databáze: |
Supplemental Index |
| Externí odkaz: |
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