Changes in the Polyunsaturated Fatty Acid Profiles in Zellweger Syndrome Suggesting a New Enzymatic Defect: Delta-4 Desaturase Deficiency
Zellweger (cerebro-hepato-renal) syndrome is a very severe peroxisomal disorder, leading to death within the first 6 months of life. A lack of peroxisomes in hepatocytes and renal proximal tubules has been detected in Zellweger patients (1). Deficiency of peroxisomal enzymes results in several biochemical alterations, such as a reduction in plasmalogen synthesis (2) and a decrease in the β-oxidation of saturated and monoinsaturated very long chain fatty acids (mainly 26:0 and 26:1), with a significant accumulation of these compounds in the affected tissues (3). To date, no changes in the polyunsaturated fatty acid (PUFA) patterns of Zellweger patients have been described. This report presents evidence of very drastic anomalies in the PUFA profiles of a case of Zellweger syndrome, strongly suggesting the existence of a new enzymatic defect in peroxisomal disorders involving the desaturase system of long polyunsaturated fatty acids.
KeywordsTotal Fatty Acid Dimethyl Acetal Zellweger Syndrome Peroxisomal Disorder Direct Transesterification
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