A heterogeneous group of inherited metabolic disorders marked by absent or dysfunctional peroxisomes. peroxisomal enzymatic abnormalities may be single or multiple. biosynthetic peroxisomal pathways are compromised, including the ability to synthesize ether lipids and to oxidize long-chain fatty acid precursors. diseases in this category include zellweger syndrome; infantile refsum disease; rhizomelic chondrodysplasia (chondrodysplasia punctata, rhizomelic); hyperpipecolic acidemia; neonatal adrenoleukodystrophy; and adrenoleukodystrophy (x-linked). neurologic dysfunction is a prominent feature of most peroxisomal disorders.

Peroxisomal disorders represent a class of medical conditions caused by defects in peroxisome functions. This may be due to defects in single enzymes important for peroxisome function or in peroxins, proteins encoded by PEX genes that are critical for normal peroxisome assembly and biogenesis..