Refsum's disease: A peroxisomal disorder affecting phytanic acid α-oxidation

Journal of Neurochemistry

Volumn 80, Issue 5, 2002, Pages 727-735

  Wierzbicki, Anthony S ^a,b   Lloyd, Matthew D ^c,d   Schofield, Christopher J ^c   Feher, Michael D ^b   Gibberd, F Brian ^b  

^a ST THOMAS HOSPITAL   (United Kingdom)

^b CHELSEA AND WESTMINSTER HOSPITAL   (United Kingdom)

^c UNIVERSITY OF OXFORD   (United Kingdom)

^d University of Bath   (United Kingdom)

Author keywords

Oxygenase; Peroxisomes; Phytanic acid; Refsum's disease; Review

Indexed keywords

2 OXOGLUTARIC ACID; BILE ACID; CATECHOLAMINE; CHOLESTEROL; COCARBOXYLASE; COENZYME A; CYCLOPHILIN; FATTY ACID; FATTY ACID BINDING PROTEIN; FK 506 BINDING PROTEIN; HIGH DENSITY LIPOPROTEIN; HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE INHIBITOR; ISOPRENOID; LOW DENSITY LIPOPROTEIN; LYASE; OXYGENASE; PEROXIN; PEROXISOME PROLIFERATOR ACTIVATED RECEPTOR ALPHA; PHYTANIC ACID; RACEMASE; RETINOID X RECEPTOR; STEROID HORMONE; STEROL CARRIER PROTEIN 2; TRIACYLGLYCEROL; TRIACYLGLYCEROL LIPASE; VERY LOW DENSITY LIPOPROTEIN;

CLINICAL FEATURE; DIETARY INTAKE; ENZYME ACTIVITY; GENE; GENE MAPPING; HUMAN; METABOLISM; MUTATION; NONHUMAN; OXIDATION; PEROXISOME; PHENOTYPE; PLASMAPHERESIS; PRIORITY JOURNAL; REFSUM DISEASE; SHORT SURVEY; SYMPTOMATOLOGY; TOXICITY;

ANIMALS; CARRIER PROTEINS; HUMANS; MICE; MICE, KNOCKOUT; MIXED FUNCTION OXYGENASES; MUTATION; OXIDATION-REDUCTION; PEROXISOMES; PHENOTYPE; PHYTANIC ACID; PLANT PROTEINS; REFSUM DISEASE;

ATAXIA;

EID: 0036316242     PISSN: 00223042     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.0022-3042.2002.00766.x     Document Type: Short Survey

References (68)

1. Atypical refsum disease with pipecolic acidemia and abnormal catalase distribution
2. Genetic heterogeneity with Refsum disease: Discovery of its underlying basis through the identification of mutations in the Pex 7 gene which is also mutated in rhizomelic chondrodysplasia puncata type 1
3. The significance of plasma phytanic acid levels in adults
4. Diet and Refsum's disease. The determination of phytanic acid and phytol in certain foods and application of thesis knowledge to the choice of suitable convenience foods for patients with Refsum's disease
5. Restoration of phytanic acid oxidation in Refsum disease fibroblasts from patients with mutations in the phytanoyl-CoA hydroxylase gene
6. Immunophilins, Refsum disease, and lupus nephritis: The peroxisomal enzyme phytanoyl-CoA alpha-hydroxylase is a new FKBP-associated protein
7. Roles of phytanoyl-CoA alpha-hydroxylase in mediating the expression of human coagulation factor VIII
8. Can patients with Refsum's disease safely eat green vegetables?
9. Alpha-oxidation of 3-methyl-substituted fatty acids in rat liver. Production of formic acid instead of CO2, cofactor requirements, subcellular localization and formation of a 2-hydroxy-3-methylacyl-CoA intermediate
10. Naturally occurring food toxicants: Toxic lipids
11. Phytanic acid activates the peroxisome proliferator-activated receptor alpha (PPARalpha) in sterol carrier protein 2-/sterol carrier protein x-deficient mice
12. Molecular cloning and expression of human carnitine octanoyltransferase: Evidence for its role in the peroxisomal beta-oxidation of branched-chain fatty acids
13. Mutations in the gene encoding peroxisomal alpha-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy
14. Purification, molecular cloning, and expression of 2-hydroxyphytanoyl-CoA lyase, a peroxisomal thiamine pyrophosphate-dependent enzyme that catalyzes the carbon-carbon bond cleavage during alpha-oxidation of 3-methyl-branched fatty acids
15. An update on the mechanisms of action of the peroxisome proliferator-activated receptors (PPARs) and their roles in inflammation and cancer
16. Heredopathia atactica polyneuritiformis: Refsum's disease
17. Heredopathia atactica polyneuritiformis (refsum's disease) treated by diet and plasma-exchange
18. Lipapheresis: An immunoglobulin-sparing treatment for Refsum's disease
19. The 2-His-1-carboxylate facile triad. An emerging motif in mononuclear non-haem iron (II) enzymes
20. Refsum's disease: Defective oxidation of phytanic acid in tissue cultures derived from homozygotes and heterozygotes
21. Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene
22. Human phytanoyl-CoA hydroxylase: Resolution of the gene structure and the molecular basis of Refsum's disease
23. Identification of pristanal dehydrogenase activity in peroxisomes: Conclusive evidence that the complete phytanic acid alpha-oxidation pathway is localized in peroxisomes
24. Identification and characterization of HAOX1, HAOX2, and HAOX3, three human peroxisomal 2-hydroxy acid oxidases
25. Uber das vorkommen der 3,7,11,15 tetramethylhexadecansaure (phytansaure) in dem cholesterinesstern und anderen lippoid fraktioneen der organae bei einem krankshetsfal unberkannter genese (verdacht auf heredopathia atactica polyneuritiformis: Refsum syndrome
26. Studies on phytanoyl-CoA hydroxylase and synthesis of phytanoyl-Coenzyme A
27. Phytol metabolites are circulating dietary factors that activate the nuclear receptor RXR
28. Phytanic acid is a retinoid X receptor ligand
29. Peroxisomal lipid degradation via beta- and alpha-oxidation in mammals
30. Phytanic acid alpha-oxidation in rat liver peroxisomes. Production of alpha-hydroxyphytanoyl-CoA and formate is enhanced by dioxygenase cofactors
31. Identification of PAHX, a Refsum disease gene
32. New approaches in peroxisomal disorders
33. Peroxisomal disorders: Classification and overview of biochemical abnormalities
34. Molecular genetics of peroxisomal disorders
35. Therapeutic trial of plasmapheresis in Refsum disease and in Fabry disease
36. Phenotypes of patients with peroxisomal disorders sub-divided into sixteen complementation groups
37. Structure-function analysis of phytanoyl-CoA 2-hydroxylase mutations causing Refsum's disease
38. 'Chemical co-substrate rescue' of phytanoyl-CoA 2-hydroxylase mutants causing Refsum's disease
39. Localization of Refsum disease with increased pipecolic acidaemia to chromosome 10p by homozygosity mapping and carrier testing in a single nuclear family
40. Renal involvement in Refsum's disease
41. Identification of phytanoyl-CoA ligase as a distinct acyl-CoA ligase in peroxisomes from cultured human skin fibroblasts
42. Biogenesis and function of peroxisomes and glycosomes
43. Skeletal abnormalities in Refsum's disease (heredopathia atactica polyneuritiformis)
44. Cerebellar atrophy in chronic rhizomelic chondrodysplasia punctata: A potential role for phytanic acid and calcium in the death of its Purkinje cells
45. The iron (II), 2-oxoacid-dependent dioxygenases and their role in metabolism
46. Rhizomelic chondrodysplasia punctata, a peroxisomal biogenesis disorder caused by defects in Pex7p, a peroxisomal protein import receptor: A minireview
47. Heredotaxia hemeralopica polyneuritiformis - At tidigere ikke beskrevet familiaert syndrom? En forelobig meddelse. (Heredotaxia hemeralopica polyneuritiformis - A previously nondescribed familial syndrome? A preliminary report.)
48. Defective peroxisomal catabolism of branched fatty acyl coenzyme A in mice lacking the sterol carrier protein-2/sterol carrier protein-x gene function
49. Sterol carrier protein-2
50. Spectrum of mutations and sequence variants in the FALDH gene in patients with Sjogren-Larsson syndrome
51. Biochemistry of peroxisomes in health and disease
52. Mechanism of action of fibrates on lipid and lipoprotein metabolism
53. Refsum's disease: Nature of the enzyme defect
54. The life cycle of the peroxisome
55. Peroxisome proliferator-activated receptors: From transcriptional control to clinical practice
56. A new peroxisomal disease with impaired phytanic and pipecolic acid oxidation
57. Human metabolism of phytanic acid and pristanic acid
58. Resolution of the phytanic acid alpha-oxidation pathway: Identification of pristanal as product of the decarboxylation of 2-hydroxyphytanoyl-CoA
59. The metabolism of phytanic acid and pristanic acid in man: A review
60. Peroxisomes, lipid metabolism, and human disease
61. Refsum disease
62. Phytanic acid activation in rat liver peroxisomes is catalyzed by long-chain acyl-CoA synthetase
63. Transport of phytanic acid on lipoproteins in Refsum disease
64. Identification of genetic heterogeneity in Refsum's disease
65. Identification of a second locus for Refsum's disease at chromosome 6q22-24
66. Phytanic acid is ligand and transcriptional activator of murine liver fatty acid binding protein
67. Phytanoyl-CoA hydroxylase activity is induced by phytanic acid
68. Pristanic acid and phytanic acid: Naturally occurring ligands for the nuclear receptor peroxisome proliferator-activated receptor alpha