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