Peroxisomal Diseases

Peroxisomes, membrane-bound intracellular organelles, play important roles in various metabolic processes of the nervous system and the adrenals. Their major functions include (a) the synthesis of plasmalogen, an

p f figure 9.9

Pompe's disease. Glycogen is stored (A) in the neurons and (B) astrocytes (frozen section, PAS stain).

important membrane component of cells and myelin; (b) the synthesis of cholesterol and dolichols; (c) the oxidation of very long-chain-fatty acids (VLCFA); and (d) the oxidation of phytanic acid.

Neurologic diseases associated with peroxisomal disorders are caused either by the absence or reduced number and size of peroxisomes (disorder of biogenesis), resulting in generalized enzyme deficiencies; or by singleenzyme deficiencies of structurally normal peroxisomes. The diseases may occur from the neonatal period through adulthood and have a wide range of phenotypic expression. Adrenal insufficiency is an integral part of some.

The pathology in both generalized and singleenzyme deficiencies consists of extensive degeneration of myelin in the brain, spinal cord, or peripheral nerves. Concomitant congenital malformation and inflammatory reaction are noteworthy in some diseases.

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