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

doi:10.1212/01.wnl.0000255960.01644.39

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

Neurology. 2007 Feb 27;68(9):698-700. doi: 10.1212/01.wnl.0000255960.01644.39.

Authors

M A Horn¹, 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

Affiliation

¹ Department of Neurology, Ulleval University Hospital, Oslo, Norway. rtho@uus.no

PMID: 17325280
DOI: 10.1212/01.wnl.0000255960.01644.39

Abstract

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Aged
DNA Mutational Analysis
Genetic Predisposition to Disease / genetics
Humans
Male
Mutation
Peroxisomal Targeting Signal 2 Receptor
Phenotype*
Receptors, Cytoplasmic and Nuclear / genetics*
Refsum Disease / classification
Refsum Disease / diagnosis*
Refsum Disease / genetics*

Substances

PEX7 protein, human
Peroxisomal Targeting Signal 2 Receptor
Receptors, Cytoplasmic and Nuclear