Severe deficiency of docosahexaenoic acid in peroxisomal disorders: a defect of delta 4 desaturation?
Martínez, M.
Neurology 40(8): 1292-1298
1990
ISSN/ISBN: 0028-3878 PMID: 2143272 Document Number: 355578
In confirmation of previous findings, patients with Zellweger's syndrome had extremely low levels of docosahexaenoic acid (22:6.omega.3) in the brain, liver, and kidneys. The other product of .DELTA.4 desaturation, 22:5.omega.6, was also very significantly decreased, as were the ratios 22:6.omega.3/22:5.omega.3 and 22:5.omega.6/22:4.omega.6, especially in the brain and liver of the Zellweger patients. The infant with pseudo-Zellweger's syndrome also had very low levels of 22:6.omega.3 and of the ratio 22:6.omega.3/22:5.omega.3 in all tissues, especially in the brain, where the index 22:5.omega.6/22:4.omega.6 was also very significantly reduced. The ratio 22:6.omega.3/22:4.omega.6 was markedly decreased in all tissues, in Zellweger's as well as in pseudo-Zellweger's syndrome. The findings reported here strongly reinforce the hypothesis of a new enzymatic defect in peroxisomal disorders involving the desaturation of long polyunsaturated fatty acids, especially of the .omega.3 family.