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Phenotype of adult Refsum disease due to a defect in peroxin 7.

M A Horn, D M van den Brink, R J A Wanders, M Duran, B T Poll-The, C M E Tallaksen, O H Stokke, H Moser, O H Skjeldal
Neurology 2007 Februrary 28
The biochemical hallmark of adult Refsum disease (ARD) is an isolated deficiency in the breakdown of phytanic acid. This usually results from a PHYH gene defect, although some cases have been found to carry a PEX7 defect. We describe the phenotype of such a patient, indistinguishable from that of classic ARD. Hence, we propose the subdivision of ARD into type 1 and type 2, depending on which gene is defective.

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