[Refsum disease].
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.
Bernscherer
G
G
Rehabilitációs Osztály, Megyei Tüdögyógyintézet, Hegyfalu.
Berényi
E
E
Karabélyos
C
C
László
A
A
Dávid
Z
Z
Hollódy
K
K
Tóth
E Z
EZ
D002675:Child, Preschool; D002845:Chromatography; D003337:Corpus Callosum / Q000473:pathology; D005227:Fatty Acids / Q000378:metabolism; D006801:Humans; D006986:Hypervitaminosis A / Q000175:diagnosis / Q000628:therapy; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D010956:Plasmapheresis; D012035:Refsum Disease / Q000175:diagnosis / Q000628:therapy
D005227:Fatty Acids