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: 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
• Journal: Neurology (Neurology) Vol. 68 Issue 9 Pg. 698-700 (Feb 27 2007) ISSN: 1526-632X [Electronic] United States
• PMID: 17325280 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

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

Topics

• 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, diagnosis, genetics)