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Essential fatty acids in clinically stable children with propionic acidaemia
Author(s) -
Decsi T.,
Sperl W.,
Koletzko B.
Publication year - 1997
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1023/a:1005315717106
Subject(s) - polyunsaturated fatty acid , linoleic acid , arachidonic acid , fatty acid , metabolism , docosahexaenoic acid , medicine , biochemistry , endocrinology , triglyceride , essential fatty acid , fatty acid metabolism , biology , chemistry , cholesterol , enzyme
Disturbances of fatty acid metabolism with accumulation of odd‐chain fatty acids have been reported in propionic acidaemia (PA). It is not known whether the synthesis of long‐chain polyunsaturated fatty acids (LCPUFA) is also affected. In five clinically stable children with PA (median age 8 years, range 3.5‐9.5 years; median percentage fibroblast propionyl‐CoA carboxylase activity 0.8, range 0.8‐1.5), we determined the fatty acid composition of plasma phospholipids, triglycerides and sterol esters and compared the results with those of 18 age‐matched healthy controls. Odd‐numbered fatty acids were found in all samples of PA patients but in controls median values were zero. Percentage contributions of substrate (linoleic acid, C18:2 ω‐6) and principal product (arachidonic acid, C20:4 ω‐6) of ω‐6 LCPUFA synthesis did not differ between patients and controls. Similarly, there were no differences between both groups in the substrate (α‐linolenic acid, C18:3 ω‐3) and principal product (docosahexaenoic acid, C22:6 ω‐3) of ω‐3 LCPUFA formation. We conclude that disturbances of fatty acid metabolism in clinically stable children with PA do not affect LCPUFA synthesis.