Peroxisomal Diseases: Adrenoleukodystrophy, Zellweger Syndrome, Refsum Disease
Peroxisomal functions: degrade very long chain fatty acids (VLCFA); initiate synthesis of plasmalogens (myelin sheath lipids).
Classification
Peroxisome biogenesis disorders: abnormalities in more than one metabolic pathway (Table 89.1). Two phenotype groups: (a) Zellweger spectrum (decreased plasmalogens, increased VLCFA); (b) rhizomelic chondrodysplasia punctata (decreased plasmalogens but normal VLCFA degradation).
Single peroxisomal enzyme disorders: single enzyme defects (Table 89.1).
Table 89.1 Human Genetic Diseases Caused by Peroxisomal Dysfunction | |||||||||||||||||||||||
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