Peroxisomal Disorders in Neurology
Journal of the Neurological Sciences, 1988, 88:1-39 I Elsevier JNS 03095 Review article Peroxisomal disorders in neurology R. J. A. Wanders 1, H. S.A. Heymans 1'*, R. B. H. Schutgens l, P.G. Barth 2, H. van den Bosch 3 and J.M. Tager 4 Depts. of IPediatrics and 2Neurology, University Hospital Amsterdam, Amsterdam (The Netherlands), 3Laboratory of Biochemistry, State University Utrecht, Utrecht (The Netherlands), and 4Laboratory of Biochemistry, University of Amsterdam, Amsterdam (The Netherlands) (Received 18 August, 1988) (Accepted 29 August, 1988) SUMMARY Although peroxisomes were initially believed to play only a minor role in mam- malian metabolism, it is now clear that they catalyse essential reactions in a number of different metabolic pathways and thus play an indispensable role in intermediary metabolism. The metabolic pathways in which peroxisomes are involved include the biosynthesis of ether phospholipids and bile acids, the oxidation of very long chain fatty acids, prostaglandins and unsaturated long chain fatty acids and the catabolism of phytanate and (in man) pipecolate and glyoxylate. The importance of peroxisomes in cellular metabolism is stressed by the existence of a group of inherited diseases, the peroxisomal disorders, caused by an impairment in one or more peroxisomal functions. In the last decade our knowledge about per- oxisomes and peroxisomal disorders has progressed enormously and has been the subject of several reviews. New developments include the identification of several additional peroxisomal disorders, the discovery of the primary defect in several of these peroxisomal disorders, the recognition of novel peroxisomal functions and the applica- tion of complementation analysis to obtain information on the genetic relationship between the different peroxisomal disorders.
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