Refsum disease, peroxisomes and phytanic acid oxidation: a review

R. J. Wanders, G. A. Jansen, O. H. Skjeldal

Research output: Contribution to journalReview articleAcademicpeer-review

72 Citations (Scopus)

Abstract

Refsum disease was first recognized as a distinct disease entity by Sigvald Refsum in the 1940s. The discovery of markedly elevated levels of the branched-chain fatty acid phytanic acid in certain patients marked Refsum disease as a disorder of lipid metabolism. Although it was immediately recognized that the accumulation of phytanic acid is due to its deficient breakdown in Refsum disease patients, the true enzymatic defect remained mysterious until recently. A major breakthrough in this respect was the resolution of the mechanism of phytanic acid alpha-oxidation in humans. In this review we describe the many aspects of Refsum disease from the clinical signs and symptoms to the enzyme and molecular defect plus the recent identification of genetic heterogeneity in Refsum disease
Original languageEnglish
Pages (from-to)1021-1031
JournalJournal of Neuropathology and Experimental Neurology
Volume60
Issue number11
DOIs
Publication statusPublished - 2001

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