Peroxisomal matrix enzymes in Zellweger syndrome: activity and subcellular localization in liver.

Abstract

The cerebro-hepato-renal (Zellweger) syndrome (McKusick 21410) can be considered as the prototype of a newly recognized group of inherited diseases, the peroxisomopathies, in which one or more peroxisomal functions are impaired. In contrast to earlier suggestions, it is now clear that peroxisomes fulfil an essential role in a number of metabolic processes, including ether phospholipid biosynthesis, oxidation of very long chain fatty acids, bile acid synthesis and oxidation of dicarboxylic acids (reviewed in Borst, 1983; Kelley, 1983). The absence of peroxisomes in Zellweger syndrome is accompanied by a generalized impairment of these peroxisomal functions.