The effectiveness of long-term dietary therapy in the treatment of adult Refsum disease

Journal of Neurology, Neurosurgery and Psychiatry

Volumn 81, Issue 9, 2010, Pages 954-957

  Baldwin, Eleanor J ^a   Gibberd, F Brian ^a   Harley, Claire ^a   Sidey, Margaret C ^a   Feher, Michael D ^a   Wierzbicki, Anthony S ^a  

^a CHELSEA AND WESTMINSTER HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

PHYTANIC ACID; MIXED FUNCTION OXIDASE; PHYH PROTEIN, HUMAN;

ADOLESCENT; ADULT; ARTICLE; CLINICAL ARTICLE; CLINICAL EFFECTIVENESS; COHORT ANALYSIS; DIET THERAPY; FEMALE; HOSPITAL ADMISSION; HUMAN; LIFESTYLE MODIFICATION; LONG TERM CARE; MALE; PRIORITY JOURNAL; REFSUM DISEASE; REINFORCEMENT; RETROSPECTIVE STUDY; WEIGHT REDUCTION; BLOOD; EVALUATION; GENETICS; MIDDLE AGED; MUTATION; TIME;

ADOLESCENT; ADULT; FEMALE; HUMANS; MALE; MIDDLE AGED; MIXED FUNCTION OXYGENASES; MUTATION; PHYTANIC ACID; REFSUM DISEASE; TIME FACTORS;

EID: 77956637431     PISSN: 00223050     EISSN: 1468330X     Source Type: Journal    
DOI: 10.1136/jnnp.2008.161059     Document Type: Article

References (31)

1. Wierzbicki AS, Lloyd MD, Schofield CJ, et al. Refsum's disease: a peroxisomal disorder affecting phytanic acid alpha-oxidation. J Neurochem 2002;80:727-35.
2. Wierzbicki AS. Peroxisomal disorders affecting phytanic acid alpha-oxidation: a review. Biochem Soc Trans 2007;35:881-6.
3. Wanders RJ, Komen JC. Peroxisomes, Refsum's disease and the alpha- and omega-oxidation of phytanic acid. Biochem Soc Trans 2007;35:865-9.
4. Wanders RJ, Jansen GA, Skjeldal OH. Refsum disease, peroxisomes and phytanic acid oxidation: a review. J Neuropathol Exp Neurol 2001;60:1021-31.
5. Steinberg D, Mize CE, Herndon JH Jr., et al. Phytanic acid in patients with Refsum's syndrome and response to dietary treatment. Arch Intern Med 1970;125:75-87.
6. Mukherji M, Schofield CJ, Wierzbicki AS, et al. The chemical biology of branched-chain lipid metabolism. Prog Lipid Res 2003;42:359-76. (Pubitemid 36700403)
7. Jansen GA, Waterham HR, Wanders RJ. Molecular basis of Refsum disease: sequence variations in phytanoyl-CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7). Hum Mutat 2004;23:209-18.
8. Wierzbicki AS, Mayne PD, Lloyd MD, et al. Metabolism of phytanic acid and 3-methyl-adipic acid excretion in patients with adult Refsum disease. J Lipid Res 2003;44:1481-8.
9. Brown PJ, Mei G, Gibberd FB, et al. Diet and Refsum's disease. The determination of phytanic acid and phytol in certain foods and application of this knowledge to the choice of suitable convenience foods for patients with Refsum's disease. J Hum Nutr Diet 1993;6:295-305. (Pubitemid 23250246)
10. Coppack SW, Evans R, Gibberd FB, et al. Can patients with Refsum's disease safely eat green vegetables? BMJ (Clin Res Ed) 1988;296:828.
11. Westgard JO, Groth T. Design and evaluation of statistical control procedures: applications of a computer 'quality control simulator' program. Clin Chem 1981;27:1536-45.
12. Fowler B, Burlina A, Kozich V, et al. Quality of analytical performance in inherited metabolic disorders: the role of ERNDIM. J Inherit Metab Dis 2008;31:680-9.
13. Wierzbicki AS, Mitchell J, Lambert-Hammill M, et al. Identification of genetic heterogeneity in Refsum's disease. Eur J Hum Genet 2000;8:649-51. (Pubitemid 30639374)
14. Wierzbicki AS, Sankaralingam A, Lumb PJ, et al. Transport of phytanic acid on lipoproteins in Refsum disease. J Inherit Metab Dis 1999;22:29-36. (Pubitemid 29078128)
15. Gibberd FB, Billimoria JD, Page NG, et al. Heredopathia atactica polyneuritiformis (Refsum's disease) treated by diet and plasma-exchange. Lancet 1979;1:575-8.
16. Weinstein R. Phytanic acid storage disease (Refsum's disease): clinical characteristics, pathophysiology and the role of therapeutic apheresis in its management. J Clin Apheresis 1999;14:181-4. (Pubitemid 30020638)
17. Dry J, Pradalier A, Canny M. Refsum's disease: 10 years of a diet low in phytanic acid and phytol. Ann Med Interne (Paris) 1982;133:483-7. (Pubitemid 13166980)
18. Djupesland G, Flottorp G, Refsum S. Phytanic acid storage disease: hearing maintained after 15 years of dietary treatment. Neurology 1983;33:237-40. (Pubitemid 13137366)
19. Siegmund JB, Meier H, Hoppmann I, et al. Cascade filtration in Refsum's disease. Nephrol Dial Transplant 1995;10:117-19.
20. Hungerbuhler JP, Meier C, Rousselle L, et al. Refsum's disease: management by diet and plasmapheresis. Eur Neurol 1985;24:153-9. (Pubitemid 15103684)
21. Marcaud V, Defontaines B, Jung P, et al. Refsum's disease: evolution 35 years after diagnosis. Rev Neurol (Paris) 2002;158:225-9.
22. Eldjarn L, Try K, Stokke O, et al. Dietary effects on serum-phytanic-acid levels and on clinical manifestations in heredopathia atactica polyneuritiformis. Lancet 1966;1:691-3.
23. Horn MA, van den Brink DM, Wanders RJ, et al. Phenotype of adult Refsum disease due to a defect in peroxin 7. Neurology 2007;68:698-700.
24. Lough AK. The phytanic acid content of the lipids of bovine tissues and milk. Lipids 1977;12:115-19.
25. Masters-Thomas A, Bailes J, Billimoria JD, et al. Heredopathia atactica polyneuritiformis (Refsum's disease): 1. Clinical features and dietary management. J Hum Nutr 1980;34:245-50.
26. Masters-Thomas A, Bailes J, Billimoria JD, et al. Heredopathia atactica polyneuritiformis (Refsum's disease): 2. Estimation of phytanic acid in foods. J Hum Nutr 1980;34:251-4.
27. van den Brink DM, van Miert JN, Dacremont G, et al. Identification of fatty aldehyde dehydrogenase in the breakdown of phytol to phytanic acid. Mol Genet Metab 2004;82:33-7. (Pubitemid 38521126)
28. Verhoeven NM, Jakobs C, Carney G, et al. Involvement of microsomal fatty aldehyde dehydrogenase in the alpha- oxidation of phytanic acid. FEBS Lett 1998;429:225-8. (Pubitemid 28300365)
29. Wierzbicki AS. Clinical significance of oxidation from phytol to phytanic acid in man. Mol Genet Metab 2004;83:347.
30. Gibberd FB, Billimoria JD, Goldman JM, et al. Heredopathia atactica polyneuritiformis: Refsum's disease. Acta Neurol Scand 1985;72:1-17.
31. Wierzbicki AS, Lloyd MD. Dr Brian Gibberd (1931-2006): a pioneering clinician in Refsum's disease. Biochem Soc Trans2007;35:862-4.