Abstract
We presented clinical and biochemical findings of seven infants with Zellweger syndrome, a baby with peroxisomal 3-keto-acyl CoA thiolase deficiency and a baby with Zellweger-like syndrome whose clinical and biochemical abnormalities were similar to those of Zellweger syndrome, yet with peroxisomes detectable electronmicroscopically. These three types of peroxisomal disorders had some similarities in the clinical fea-tures, accumulation of very-long-chain fatty acids and dicarboxylic aciduria, but they were able to be distinguished by further measurements of activities and proteins of peroxisomal β-oxidation enzymes and of dihyd -roxyacetone phosphate acyltransferase, a peroxisomal enzyme with a major role in plasmalogen synthesis, and observation of peroxisomal structure.
Furthermore, in attempt to elucidate the mechanism of the pathogenesis of these disorders, we investigated the biosynthesis of enzymes of peroxisomal β-oxidation and peroxisomal membrane polypeptides using pulse labelling and chase experiments of fibroblasts.
