Diagnosis of human peroxisomal disorders

Peroxisomal disorders constitute a major research front in clinical genetics, paediatrics and cell biology. Since 1983, the metabolic defect in some 20 different peroxisomal disorders has been described. The best known conditions include Zellweger syndrome, rhizomelic chondrodysplasia punctata and X-linked adrenoleukodystrophy. Progress in our understanding of these conditions, and their diagnosis, results from the application of a variety of laboratory investigations. These include microscopic studies, analysis of metabolites (very long-chain fatty acids, bile acids, and plasmalogens), enzyme studies (peroxisomal b-oxidation pathway and dihydroxyacetone phosphate acyltransferase), immunodetection of peroxisomal (membrane) proteins and molecular analysis of mutant DNA. In order to encourage a greater awareness in this field and the diagnostic protocols required, an international course was organized in Gent, Belgium, in May 1994, on the clinical and biochemical diagnosis of peroxisomal disorders.A number of international experts in the field who provided intensive hands-on experience over three to five days, have now collected their course work and reviews together in this handbook. The volume is introduced by Sidney Goldfischer, who in 1973 was the first to recognize the absence of peroxisomes in Zellweger syndrome, but whose observations were not fully appreciated for a further decade. This handbook provides an account of laboratory methods for the diagnosis of peroxisomal disorders. The methods are clearly presented and well illustrated, and should allow laboratories to introduce these methods into their repertoire.