REFSUMS DISEASE HEREDOPATHIA ATACTICA POLYNEURITIFORMIS

H. Moser, and E. Rossi Refsum s disease (heredopathia atactica polyneuritiformis). An inborn error of lipid metabolism with storage of 3, 7, 11, 15-tetramethylhexadecanoic acid. A review of the clinical findings. Humangenetik 1, 322 (1965 a). 

Malmendier, C. L., Jonniaux, G., Voet, W. and Van Den Bergen, C. J. (1974). Fatty acid composition of tissues in Refsum s disease (Heredopathia atactica polyneuritiformis). Estimation of total phytanic acid accumulation. Biomedicine, 20,398... 

The Epidermis in Refsum s Disease (Heredopathia Atactica Polyneuritiformis)... 

Karlsson, K. A., Norrby, A. and Samuelsson, B. (1967). Use of thin layer chromatography for the preliminary diagnosis of Refsum s disease (Heredopathia atactica polyneuritiformis). Biochim. Biophys. Acta, 144,162... 

Refsum S. 1946. Heredopathia atactica polyneuritiformis A familial syndrome not hitherto described. A contribution to the clinical study of the hereditary diseases of the nervous system. Acta Psychiatr Scand (Suppl 38) 1-303. 

Refsum disease, also called heredopathia atactica polyneuritiformis, is a rare hereditary neurological disease that is transmitted as an autosomal recessive. It results from the absence of an enzyme (phytanic acid oxidase) which catalyzes the a-oxidation of phytanic acid (3,7,11,15-tetramethylhexadecanoic acid). Because of the methyl side chain in position 3 the j8-carbon oxidation of phytanic acid is blocked and the breakdown of phytanic acid can only start through a-oxidation. The product of the a-oxidation is pristanic... 

Greenfield, J. G. Diseases of the lower motor and sensory neurones (peripheral neuritis and neuropathy) in hypertrophic interstitial neuropathy of Dejerine and Sottas (heredopathia atactica polyneuritiformis Refsum). In Neuropathology. Ed. Arnold, p. 607. London 1958. 

Nordhagen, E., and J. Grondahl Heredopathia atactica polyneuritiformis (Refsum s disease). Acta ophthal. (Kbh.) 42, 629 (1964). 

Kahlke, W. (1967). Heredopathia atactica polyneuritiformis (Refsum s Disease). In G. Schettler tdi.) Lipids and Lipidoses (Berlin, Heidelberg, New York Springer)... 

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