Abstract
A lipid extract of the urine and samples of liver, kidney, skeletal muscle and adipose tissue obtained by wedge biopsy from an eight year old girl suffering from Refsum's syndrome were analyzed for their lipid and fatty acid content. Total lipids were increased although the phospholipid fraction was decreased. An unusual fatty acid was detected in all samples by gas chromatography of the fatty acid methyl esters. In the liver, 72 per cent of all fatty acids of the cholesterol ester fraction consisted of the unusual fatty acid. By analytical methods the unusual compound was identified as 3,7,11,15-tetramethyl hexadecanoic acid. The isolated product was identical with authentic 3,7,11,15-tetramethyl hexadecanoic acid synthesized starting from phytol. The unusual fatty acid was also demonstrated in the serum of three other patients suffering from Refsum's syndrome. It was also detected in the serum of the mother of one patient. An examination of both parents of the original patient whose tissues were analyzed gave negative results.
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