Peroxisomal beta-oxidation of palmitoyl-CoA in human liver homogenates and its deficiency in the cerebro-hepato-renal (Zellweger) syndrome

The presence of a beta-oxidation system in peroxisomes has been well documented. Rather than a duplicate of the mitochondrial beta-oxidation system, peroxisomes seem specially equipped to initiate the oxidation of very-long-chain fatty acids. Thus, the accumulation of very-long-chain fatty acids in tissues and body fluids from patients with a limited (X-linked adrenoleukodystrophy) or generalized (cerebro-hepato-renal (Zellweger) syndrome, infantile Refsum disease, neonatal adrenoleukodystrophy) peroxisomal dysfunction probably results from an impairment in the peroxisomal beta-oxidation system. In order to study this, we have developed an original assay which allows measurement of the overall peroxisomal beta-oxidation activity in human liver homogenates. Compared to controls, a strong deficiency of this activity was detected in liver from Zellweger patients using palmitoyl-CoA as a substrate