Peroxisomal Disorders and Neurological Disease

This article describes the clinical phenotypes and molecular genetics of peroxisomal disorders and discusses current investigations that relate to pathogenesis. We now recognize two general classes of peroxisome disorders, the single enzyme or protein deficiencies (SED), including X-linked adrenoleukodystrophy (X-ALD), and the peroxisome biogenesis disorders (PBD). Where there is a strong genotype–phenotype correlation in the PBD, there is none in X-ALD. The lipid alterations in these disorders have been implicated in both the process of inflammatory demyelination and cortical migration defects. The presence of ultrastructural alterations of mitochondria in axons and neuronal bodies in both disorders suggests that the cross-talk between mitochondria and peroxisomes might contribute to the pathogenesis.