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PubMed · 10673856

[Refsum disease].

G Bernscherer·E Berényi·C Karabélyos·A László·Z Dávid·K Hollódy·E Z Tóth
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Abstract

For the first time in literature the authors interpret the pathography of Refsum's disease, in the case of their patient, as pseudo-hypervitaminosis A. The biochemical basis of the clinical picture is a defect in the activity of phytanic-acid-alpha-hydrolase belonging to the peroxisomal system. As a consequence, phytanic acid accumulates in the serum and in the parenchymal tissues. Retinol, an alcohol with high molecular weight, is a natural ligand of nuclear RXR (retinoid-X-receptor), which plays an important role in the regulation of peroxisoma synthesis. In Refsum's disease the phytanic acid accumulated because of the enzyme defect competes with the biotransformation derivates (all-trans-retinoic acid, 9-cis-retinoic acid) of the all-trans-retinol (vitamin A) for the nuclear RX receptor binding sites, and as a very potent receptoractivator it causes the intestinal symptoms of hypervitaminosis A. The authors review the procedure of fatty-acid chromatography necessary for the establishment of the diagnosis and discuss--in addition to dietary restrictions--recent therapeutic possibilities, like plasmapheresis, cascade filtration, lipapheresis and oral batylalcohol treatment.

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Child, PreschoolChromatographyCorpus CallosumFatty AcidsHumansHypervitaminosis AInfantMagnetic Resonance ImagingMalePlasmapheresisRefsum DiseaseCase ReportsEnglish AbstractJournal Article

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G Bernscherer, E Berényi, C Karabélyos, A László, Z Dávid, K Hollódy, E Z Tóth. 2000-01-02. [Refsum disease].. https://pubmed.ncbi.nlm.nih.gov/10673856/

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