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.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1212/01.wnl.0000255960.01644.39 | DOI Listing |
Publication Analysis
Top Keywords
adult refsum
8
refsum disease
8
phenotype adult
4
disease defect
4
defect peroxin
4
peroxin biochemical
4
biochemical hallmark
4
hallmark adult
4
disease ard
4
ard isolated
4
Similar Publications
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!