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.

journal_name

Neurology

journal_title

Neurology

authors

Horn MA,van den Brink DM,Wanders RJ,Duran M,Poll-The BT,Tallaksen CM,Stokke OH,Moser H,Skjeldal OH

doi

10.1212/01.wnl.0000255960.01644.39

subject

Has Abstract

pub_date

2007-02-27 00:00:00

pages

698-700

issue

9

eissn

0028-3878

issn

1526-632X

pii

68/9/698

journal_volume

68

pub_type

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