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 delta 6 desaturase and/or delta 5 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.
journal_name
Lipidsjournal_title
Lipidsauthors
Martinez M,Mougan I,Roig M,Ballabriga Adoi
10.1007/BF02536332subject
Has Abstractpub_date
1994-04-01 00:00:00pages
273-80issue
4eissn
0024-4201issn
1558-9307journal_volume
29pub_type
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