The fundamentals and practice of docosahexaenoic acid therapy in peroxisomal disorders

Abstract

Zellweger's syndrome and related peroxisomal disorders are lethal congenital diseases whose pathogenesis is still poorly understood. The low levels of docosahexaenoic acid found in these patients seem to be related to the pathogenesis of the disease. This is confirmed by the fact that correcting their docosahexaenoic acid deficiency improves the patients significantly. All treatments currently reported involve the use of low-fat diets. This review presents a totally different therapeutic approach. The aim is to correct the docosahexaenoic acid deficiency in the first place, and give the child a normal diet in order to provide all the nutrients necessary for growth and development. The biochemical and clinical improvements produced by this approach suggest that, if given very early during development, docosahexaenoic acid therapy might prevent some of the devastating consequences of peroxisomal disorders.