One hundred and fifty‐one foods were analysed for phytanic acid and 57 foods for free phytol. Foods analysed included examples from all major food groups, beverages and confectionery.
No significant amount of phytanic acid was found in any food of purely vegetable origin. The sources of phytanic acid in the UK diet were confirmed to be foods derived from ruminant animals and fish. They include beef, lamb and products containing the milk fats of cows, sheep and goats. All fish were found to contain phytanic acid roughly in proportion to their fat content. Domestic and commercial fat blends containing animal fats (chiefly hydrogenated fish oils) and baked goods made from these fats contained phytanic acid: pure vegetable fat blends and foods containing them did not.
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.
SUMMARYRefsum disease (heredopathia atactica polyneuritifor mis) was first described in 1946 and is a rare recessively Refsum's disease, also known as heredopathia atactic a polyneuritiformis is a rare cause of retinitis pigmentosa. It was first described by Sigvald Refsum in Norway in 1945.1 By 1984 there were at least 70 cases known2 and since then there have been over 30 more cases described. The disease is inherited as an autosomal recessive condition. Refsum described four cardinal manifestations: retinitis pigmen tosa, a chronic polyneuropathy, ataxia with other cerebellar signs, and a raised CSF protein in the absence of an increased cell count. 2 Additional features include anosmia, cataract, miosed unreactive pupils, deafness, ichthyosis, skeletal abnormalities and cardiac arrhythmias which have been postulated to be the cause of sudden death in acute exacerbations.3A In 1963 Klenk and Kahlke reported an association with raised blood serum phytanic acid
Refsum's disease (MIM 266500) is a recessive disorder characterised by defective peroxisomal alpha-oxidation of phytanic acid. A Refsum's disease gene, phytanoyl-CoA hydroxylase (PAHX), has been localised to chromosome 10p13 between the markers D10S226-D10S223. This study investigated whether all cases of Refsum's disease were linked with chromosome 10p13. Eight genetically informative families comprising 92 individuals including 17 living patients with a Refsum's disease phenotype and initial plasma phytanic acid > 200 µmol/L were recruited. Linkage to the 10pter-10p11.2 region was investigated using a panel of eight dinucleotide repeat markers. Linkage analysis of this phenotypically identical cohort suggested that Refsum's disease was genetically heterogeneous (Z max = 5.28, α = 0.45). Two subgroups were identified. One group of four families with eight affected individuals had a maximum multipoint lod score for linkage of 3.89 in the region D10S547 to D10S191, whilst in another three families with nine affected individuals linkage to this region was definitely excluded. Our results show that Refsum's disease is genetically heterogeneous, with up to 55% of cases not being linked to the PAHX gene locus at D10S547 to D10S223. This suggests that Refsum's disease, in common with other peroxisomal 'diseases', may be more accurately described as a heterogeneous syndrome.
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