Refsum Disease, Peroxisomes and Phytanic Acid Oxidation: A Review
Open Access
- 1 November 2001
- journal article
- review article
- Published by Oxford University Press (OUP) in Journal of Neuropathology and Experimental Neurology
- Vol. 60 (11) , 1021-1031
- https://doi.org/10.1093/jnen/60.11.1021
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 α-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.Keywords
This publication has 49 references indexed in Scilit:
- Identification of Pristanal Dehydrogenase Activity in Peroxisomes: Conclusive Evidence That the Complete Phytanic Acid α-Oxidation Pathway Is Localized in PeroxisomesBiochemical and Biophysical Research Communications, 2001
- Human Very-Long-Chain Acyl-CoA Synthetase: Cloning, Topography, and Relevance to Branched-Chain Fatty Acid MetabolismBiochemical and Biophysical Research Communications, 1999
- Refsum disease is caused by mutations in the phytanoyl–CoA hydroxylase geneNature Genetics, 1997
- Identification of PAHX, a Refsum disease geneNature Genetics, 1997
- Phytanoyl-CoA Hydroxylase Is Present in Human Liver, Located in Peroxisomes, and Deficient in Zellweger Syndrome: Direct, Unequivocal Evidence for the New, Revised Pathway of Phytanic Acid α-Oxidation in HumansBiochemical and Biophysical Research Communications, 1996
- Phytanic acid must be activated to phytanoyl-CoA prior to its α-oxidation in rat liver peroxisomesBiochimica et Biophysica Acta (BBA) - Lipids and Lipid Metabolism, 1994
- Characteristics and subcellular localization of pristanoyl-CoA synthetase in rat liverBiochimica et Biophysica Acta (BBA) - Lipids and Lipid Metabolism, 1992
- Rhizomelic Chondrodysplasia Punctata: Another Peroxisomal DisorderNew England Journal of Medicine, 1985
- Conversion of U-C14-phytol to phytanic acid and its oxidation in heredopathia atactica polyneuritiformisBiochemical and Biophysical Research Communications, 1965
- The transformation of phytol into 3,7,11,15-tetramethylhexadecanoic (phytanic) acid in heredopathia atactica polyneuritiformis (Refsum's syndrome)Biochemical and Biophysical Research Communications, 1965