Identification of a fatty acid delta6-desaturase deficiency in human skin fibroblasts.

  title={Identification of a fatty acid delta6-desaturase deficiency in human skin fibroblasts.},
  author={Deborah E. Williard and Joseph O Nwankwo and Terry L. Kaduce and Shawn D. Harmon and M Janie Irons and Hugo W. Moser and G V Raymond and Arthur A. Spector},
  journal={Journal of lipid research},
  volume={42 4},
Polyunsaturated fatty acid (PUFA) utilization was investigated in skin fibroblasts cultured from a female patient with an inherited abnormality in lipid metabolism. These deficient human skin fibroblasts (DF) converted 85;-95% less [1-14C]linoleic acid (18:2n-6) to arachidonic acid (20:4n-6), 95% less [3-14C]tetracosatetraenoic acid (24:4n-6) to docosapentaenoic acid (22:5n-6), and 95% less [1-14C]-linolenic acid (18:3n-3) and [3-14C]tetracosapentaenoic acid (24:5n-3) to docosahexaenoic acid… CONTINUE READING
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