Abstract
The fatty acid composition of red blood cells, fibroblasts, forebrain, liver and kidney were studied in a 3-month-old infant who died from Zellweger Syndrome, and the results were compared with those of age-matched controls. Besides a typical increase in the very long chain fatty acids 26∶0 and 26∶1 and a great reduction in the plasmalogen levels, confirming the diagnosis of Zellweger Syndrome, some striking changes in the polyunsaturated fatty acid patterns were discovered. The most important was a very drastic decrease in the values of 22∶6ω3 and 22∶5ω6, the two products of Δ4-desaturation. In the kidney, the level of 22∶6ω3 fell below that of 26∶0. Consequently, the ratio 26∶0/22∶6ω3 (and 26∶1/22∶6ω3) was most useful in emphasizing the fatty acid anomalies, especially in renal tissue, where the 26∶0/22∶6ω3 ratio increased to almost 200 times the normal values. Other significant, although less consistent fatty acid alterations were increases in 18∶2ω6, 18∶3ω6, 20∶3ω6, 18∶4ω3 and 20∶4ω3, and a decrease in 20∶4ω6 in some tissues. The existence is proposed of a new enzyme defect in peroxisomal disorders, involving the desaturase system of long chain polyunsaturated fatty acids.
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Abbreviations
- BHT:
-
butyl hydroxytoluene
- DMA:
-
dimethyl acetal
- EFA:
-
essential fatty acid
- EP:
-
ethanolamine plasmalogen
- FAME:
-
fatty acid methyl ester
- GPC:
-
glycerophosphocholine
- GPE:
-
glycerophosphoethanolamine
- GPL:
-
glycerophospholipid
- PC:
-
phosphatidylcholine
- PE:
-
phosphatidylethanolamine
- PUFA:
-
polyunsaturated fatty acid
- FID:
-
flame ionization detector
- GLC:
-
gas liquid chromatography
- TLC:
-
thin layer chromatography
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Martinez, M. Polyunsaturated fatty acid changes suggesting a new enzymatic defect in Zellweger Syndrome. Lipids 24, 261–265 (1989). https://doi.org/10.1007/BF02535160
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DOI: https://doi.org/10.1007/BF02535160