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Peroxisomal disorders

Authors
Ronald JA Wanders, PhD
Raphael Schiffmann, MD, MHSc
Section Editors
Marc C Patterson, MD, FRACP
Helen V Firth, DM, FRCP, DCH
Deputy Editor
Carrie Armsby, MD, MPH

INTRODUCTION

Peroxisomes are subcellular organelles with a variable diameter ranging from 0.05 to 0.5 micron in diameter, and are present in all cells except erythrocytes. The highest concentration of peroxisomes is in the liver and kidney [1]. Although they are not present in mature erythrocytes, they are present during the early stages of erythrocyte development when membranes are formed.

Peroxisomes catalyze numerous catabolic and anabolic functions in cellular metabolism [2,3]. Catalytic functions include beta-oxidation of very long chain fatty acids (VLCFA); oxidation of pipecolic, phytanic, pristanic, and many dicarboxylic acids; and degradation of hydrogen peroxide by catalase [2-4]. Anabolic functions include synthesis of bile acids and plasmalogens, which are important components of cell membranes and myelin.

Peroxisomal disorders are a heterogeneous group of inborn errors of metabolism that result in impairment of peroxisome function. In most cases, this results in neurologic dysfunction of varying extent. The major peroxisomal disorders will be reviewed here. The pathophysiology, clinical manifestations, and management of adrenoleukodystrophy are discussed separately. (See "Adrenoleukodystrophy".)

CLASSIFICATION

Peroxisomal disorders are divided into two major categories [2,5-8].

Disorders of peroxisome biogenesis — This group includes:

                                                    

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Literature review current through: Nov 2016. | This topic last updated: Tue Dec 29 00:00:00 GMT 2015.
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