title: Phenotype of adult Refsum disease due to a defect in peroxin 7.
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.
authors.affiliation: Department of Neurology, Ulleval University Hospital, Oslo, Norway. rtho@uus.no
authors.forename: M A
authors.initials: MA
authors.lastname: Horn
authors.forename: D M
authors.initials: DM
authors.lastname: van den Brink
authors.forename: R J A
authors.initials: RJ
authors.lastname: Wanders
authors.forename: M
authors.initials: M
authors.lastname: Duran
authors.forename: B T
authors.initials: BT
authors.lastname: Poll-The
authors.forename: C M E
authors.initials: CM
authors.lastname: Tallaksen
authors.forename: O H
authors.initials: OH
authors.lastname: Stokke
authors.forename: H
authors.initials: H
authors.lastname: Moser
authors.forename: O H
authors.initials: OH
authors.lastname: Skjeldal
mesh_terms: D000368:Aged; D004252:DNA Mutational Analysis; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D008297:Male; D009154:Mutation; D000074437:Peroxisomal Targeting Signal 2 Receptor; D010641:Phenotype; D018160:Receptors, Cytoplasmic and Nuclear / Q000235:genetics*; D012035:Refsum Disease / Q000145:classification / Q000175:diagnosis* / Q000235:genetics*
chemical_list: C000614269:PEX7 protein, human; D000074437:Peroxisomal Targeting Signal 2 Receptor; D018160:Receptors, Cytoplasmic and Nuclear