Serum very long chain fatty acid pattern in Zellweger syndrome

Very long chain fatty acids of serum were analyzed by gas chromatography in six patients with the cerebro-hepato-renal syndrome of Zellweger, in seven of their parents, and in ten normal children. Increased concentrations of hexacosanoic acid (C26:0) were consistently found in the Zellweger patients. The ratios C26:0/C22:0, C25:0/C22:0, and C24:0/C22:0 also were elevated. These findings can serve as an additional important diagnostic criterion for Zellweger syndrome. The very long chain fatty acid levels and ratios in the blood of the patients' parents were within the normal ranges.