Clinical and biochemical characteristics of peroxisomal disorders: an update

Peroxisomal disorders represent a recently recognized group of inherited diseases in man, now comprising 14 different disorders. If discussion is restricted to those peroxisomal disorders in which there is neurological involvement (thereby excluding hyperoxaluria and acatalasaemia), results over the least few years have shown that analysis of very-long-chain fatty acids (VLCFAs) is a highly reliable initial test to establish whether or not one is dealing with a peroxisomal disorder. Rhizomelic chondrodysplasia punctata, its recently identified variant form and glutaryl-CoA oxidase deficiency will show no abnormalities and must be identified by other means. Recently we have found a few clinically proven cases of adrenoleukodystrophy showing normal VLCFA in plasma but clearly abnormal values in fibroblasts. This suggests that great care is warranted in interpreting plasma VLCFA analyses. Furthermore, plasma bile acids, phytanic acid, pristanic acid and pipecolic acid should be analysed in any patient with clinical symptoms suggestive for a peroxisomal disorder but normal plasma VLCFAs.