title: [Peroxisomal diseases].
abstract: Abnormalities of the peroxisome often have far-reaching and devastating clinical repercussions. A new category of genetic diseases due to impaired peroxisomal function has now been recognized. These diseases fall into two groups. In the first group more than one peroxisomal enzyme is deficient, suggesting that the primary biochemical disorder lies in the biosynthesis of a membrane protein that is essential to the transport of enzymes from cytoplasm to peroxisome. In the second group only one peroxisomal enzyme is deficient. The rapid and recent developments that have taken place in these two groups of peroxisomal disease are discussed.
mesh_terms: D030342:Genetic Diseases, Inborn / Q000201:enzymology* / Q000235:genetics; D006801:Humans; D008659:Metabolic Diseases / Q000201:enzymology; D008830:Microbodies / Q000201:enzymology* / Q000378:metabolism / Q000648:ultrastructure; D008861:Microsomes / Q000502:physiology
vernacular_title: Les maladies peroxysomiales.