Severe deficiency of docosahexaenoic acid in peroxisomal disorders

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Abstract
In confirmation of previous findings, patients with Zellweger's syndrome had extremely low levels of docosahexaenoic acid (22:6ω3) in the brain, liver, and kidneys. The other product of Δ4 desaturation, 225ω6, was also very significantly decreased, as were the ratios 22:6ω3/22:5ω3 and 22:5ω6/22:4ω6, especially in the brain and liver of the Zellweger patients. The infant with pseudo-Zellweger's syndrome also had very low levels of 22:6ω3 and of the ratio 22:6ω3/22:5ω3 in all tissues, especially in the brain, where the index 22:5ω6/22:4ω6 was also very significantly reduced. The ratio 22:6ω3/22:4ω6 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 ω3 family.

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