Phenotype of adult Refsum disease due to a defect in peroxin 7.
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.
Horn
M A
MA
Department of Neurology, Ulleval University Hospital, Oslo, Norway. rtho@uus.no
van den Brink
D M
DM
Wanders
R J A
RJ
Duran
M
M
Poll-The
B T
BT
Tallaksen
C M E
CM
Stokke
O H
OH
Moser
H
H
Skjeldal
O H
OH
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*
C000614269:PEX7 protein, human; D000074437:Peroxisomal Targeting Signal 2 Receptor; D018160:Receptors, Cytoplasmic and Nuclear