IMR Press / FBL / Volume 5 / Issue 3 / DOI: 10.2741/moser

Frontiers in Bioscience-Landmark (FBL) is published by IMR Press from Volume 26 Issue 5 (2021). Previous articles were published by another publisher on a subscription basis, and they are hosted by IMR Press on as a courtesy and upon agreement with Frontiers in Bioscience.

Molecular genetics of peroxisomal disorders
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1 Johns Hopkins University, Kennedy Krieger Institute, 707 North Broadway, Baltimore, MD 21205, USA
Academic Editor:Owen Rennert
Front. Biosci. (Landmark Ed) 2000, 5(3), 298–306;
Published: 1 March 2000
(This article belongs to the Special Issue Genetic diseases)

Twenty five human peroxisomal disorders have been defined at this time. They are subdivided into two major categories: 1) the disorders of peroxisome biogenesis, in which the organelle fails to form normally, and there are defects that involve multiple peroxisomal functions; and 2) disorders that affect single peroxisomal enzymes. During the last five years the molecular defects have been identified in nearly all. These recent advances have several important implications. They have facilitated diagnosis of affected patients. The improved capacity to provide prenatal diagnosis and heterozygote identification has been of great value for genetic counseling and disease prevention. Study of genotype-phenotype correlations has led to a new and more rational classification system. The identification of the molecular defects and the development of animal models have increased understanding of pathogenetic mechanisms, and have led to novel therapeutic approaches.

Peroxisome Biogenesis
Molecular Genetics
Zellweger Syndrome
Rhizomelic Chondrodysplasia Punctata
Refsum Disease
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