Peroxisome biogenesis disorders: Biological, clinical and pathophysiological perspectives.

Abstract

The peroxisome biogenesis disorders (PBD) are a heterogeneous group of autosomal recessive disorders in which peroxisome assembly is impaired, leading to multiple peroxisome enzyme deficiencies, complex developmental sequelae and progressive disabilities. Mammalian peroxisome assembly involves the protein products of 16 PEX genes; defects in 14 of these have been shown to cause PBD. Three broad phenotypic groups are described on a spectrum of severity: Zellweger syndrome is the most severe, neonatal adrenoleukodystrophy is intermediate and infantile Refsum disease is less severe. Another group is Rhizomelic chondrodysplasia punctata spectrum. Recently, atypical phenotypes have been described, indicating that the full spectrum of these disorders remains to be identified. For most patients, there is a correlation between clinical severity and effect of the mutation on PEX protein function. Diagnosis relies on biochemical measurements of peroxisome functions and PEX gene sequencing. There are no targeted therapies, although management protocols have been suggested and research endeavors continue. In this review we will discuss peroxisome biology and PBD, and research contributions to pathophysiology and treatment.

• Authors: Nancy E Braverman, Maria Daniela D'Agostino, Gillian E Maclean
• Journal: Developmental disabilities research reviews (Dev Disabil Res Rev) Vol. 17 Issue 3 Pg. 187-96 ( 2013) ISSN: 1940-5529 [Electronic] United States
• PMID: 23798008 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Review)
• Copyright: Copyright © 2013 Wiley Periodicals, Inc., a Wiley company.

Chemical References

• PHEX Phosphate Regulating Neutral Endopeptidase
• PHEX protein, human

Topics

• Age Factors
• Age of Onset
• Animals
• Humans
• Mutation
• PHEX Phosphate Regulating Neutral Endopeptidase (drug effects, genetics)
• Peroxisomal Disorders (diagnosis, drug therapy, genetics, metabolism, physiopathology)
• Peroxisomes (genetics, metabolism)
• Phenotype
• Zellweger Syndrome (diagnosis, genetics, metabolism)