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

@article{Baldwin2010TheEO,
  title={The effectiveness of long-term dietary therapy in the treatment of adult Refsum disease},
  author={Eleanor J Baldwin and Frederick Gibberd and Clare Harley and Margaret C Sidey and Michael D. Feher and Anthony S. Wierzbicki},
  journal={Journal of Neurology, Neurosurgery \& Psychiatry},
  year={2010},
  volume={81},
  pages={954 - 957}
}
Objective To evaluate the long-term effectiveness of dietary therapy with regular dietetic reinforcement for adult Refsum disease. Methods Retrospective case note analysis of records of plasma phytanic acid and hospital admission of 13 patients with adult Refsum disease who attended the specialist centre and repeatedly received dietary instruction for a minimum of 10 years. Results Patients undergoing review had attended for 11–28 years totalling 237 years. Median baseline phytanic acid… 
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TLDR
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TLDR
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TLDR
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TLDR
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References

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TLDR
The authors report the evolution of two cases of Refsum's disease, treated with a specific phytol and phytanic acid diet for ten years, leading to a rapid and stable fall of phytanemia, and a progressive improvement of the peripheral neuropathy and cerebellous symptoms.
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TLDR
Serial plasma exchanges determined a rapid significant clinical improvement (neuropathy and cerebellar ataxia) that allowed immediate return to full-time employment and could be maintained by intermittent serial plasmapheresis despite partial failure of the initially introduced low phytanate diet.
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TLDR
The hypothesis that accumulation of phytanic acid plays a pathogenetic role in Refsum's disease is supported and further therapeutic trials are justified.
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Data is given on the phytanic-acid content of various foodstuffs and suggests dietary manipulation of the patient with Refsum's disease to eliminate chlorophyll-bound phytol.
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TLDR
Therapeutic plasma exchange has been shown to be particularly useful for rapidly lowering plasma phytanic acid levels during acute attacks and may play a significant role as maintenance therapy as well.
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TLDR
A patient with Refsum's disease diagnosed in 1965 presented with facial paralysis, the phytanic acid concentration was low, CSF protein level was normal leading to diagnosis of Bell's palsy, which is of particular interest because after 35 years evolution of the disease, the only handicap was visual impairment, with no loss of muscle strength or sensory deficit.
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TLDR
The distribution of phytanic acid in different lipoprotein subfractions in 11 patients with Refsum disease and 9 unaffected siblings suggests that the import–export balance for phytic acid in plasma is related to forward and reverse cholesterol transport on lipop protein particles, and only weakly to plasma cholesterol and triglycerides.
Metabolism of phytanic acid and 3-methyl-adipic acid excretion in patients with adult Refsum disease Published, JLR Papers in Press, April 16, 2003. DOI 10.1194/jlr.M300121-JLR200
TLDR
The ω-oxidation pathway can metabolise PA ingested by patients with ARD, but this activity is dependent on plasma PA concentration, and forms a functional reserve capacity that enables patients withARD undergoing acute stress to cope with limited increases in plasma PA levels.
Maladie de Refsum avec 35 ans de recul
TLDR
A patient with Refsum's disease diagnosed in 1965 presented with facial paralysis, the phytanic acid concentration was low, CSF protein level was normal leading to diagnosis of Bell's palsy, which is of particular interest because after 35 years evolution of the disease, the only handicap was visual impairment, with no loss of muscle strength or sensory deficit.
Diet and Refsum's disease. The determination of phytanic acid and phytol in certain foods and the application of this knowledge to the choice of suitable convenience foods for patients with Refsum's disease
TLDR
Free phytol was found in small amounts in a variety of foods but not in sufficient quantity to warrant the exclusion of any one item from the diet of patients with Refsum's disease.
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