Blood polyunsaturated fatty acids in patients with peroxisomal disorders. A multicenter study |
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Authors: | Manuela Martinez Isabel Mougan Manuel Roig Angel Ballabriga |
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Affiliation: | (1) Biomedical Research Unit, University Maternity-Children's Hospital, Valle de Hebron, planta 14, 08035 Barcelona, Spain |
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Abstract: | The purpose of the study was to compare the polyunsaturated fatty acid (PUFA) status in patients with X-linked adrenoleukodystrophy
or adrenomyeloneuropathy (X-ALD/AMN) with that in disorders of peroxisome biogenesis (PB). Total fatty acids and plasmalogens
were quantified in plasma and red cells from 28 patients with X-ALD/AMN, 26 patients with generalized peroxisomal disorders,
and 37 controls. Total fatty acid methyl esters and plasmalogen dimethyl acetals were obtained by direct transmethylation
and separated by capillary column gas chromatography. The results confirm previous findings in that docosahexaenoic acid (DHA,
22∶6n−3) was greatly decreased in both plasma and erythrocytes from patients with PB disorders. When nutritional conditions
were adequate, patients with X-ALD/AMN had normal levels of DHA. A highly significant positive correlation was found between
the levels of DHA and those of plasmalogens in peroxisomal patients. As in other tissues, the parent n−6 fatty acid, linoleic
acid (LA, 18∶2n−6) was significantly increased in red cells from PB patients, whereas arachidonic acid (20∶4n−6) was virtually
within normal limits. In clear contrast to red cells and other tissues, arachidonate was significantly lower in plasma from
PB patients. The decrease in plasma arachidonate and the high tissue levels of LA suggest a defect of Δ6 desaturase and/or
Δ5 desaturase in PB patients. The n−6 fatty acids were normal in X-ALD/AMN patients. The present data show that X-ALD/AMN
patients do not have the profound PUFA alterations that PB patients have, at least in blood. |
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