Disturbed very long chain (C24-C26) fatty acid pattern in fibroblasts of patients with Zellweger's syndrome.

The very long chain fatty acids in cultured fibroblasts from six patients with the cerebro-hepato-renal syndrome of Zellweger, from six of their parents, from three controls, and also in three amniotic fluid control cell lines were analysed by gas chromatography. Increased concentrations of hexacosanoic acid (C26:O) were consistently found in the Zellweger syndrome. Also the ratios C26:O/C22:O, C25:O/C22:O, and C24:O/C22:O were elevated. The very long chain fatty acid levels and ratios in fibroblasts from the patients' parents were within the normal range. Findings in amniotic fluid cell lines indicate the possibility of antenatal diagnosis for Zellweger's syndrome. The similarities between neonatal adrenoleukodystrophy and Zellweger's syndrome suggest the applicability of this technique also in neonatal adrenoleukodystrophy.