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Peroxisome biogenesis disorders: Biological, clinical and pathophysiological perspectives.
- Source :
-
Developmental disabilities research reviews [Dev Disabil Res Rev] 2013; Vol. 17 (3), pp. 187-96. - Publication Year :
- 2013
-
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.<br /> (Copyright © 2013 Wiley Periodicals, Inc., a Wiley company.)
- Subjects :
- Age Factors
Age of Onset
Animals
Humans
PHEX Phosphate Regulating Neutral Endopeptidase drug effects
Peroxisomes genetics
Phenotype
Zellweger Syndrome diagnosis
Zellweger Syndrome genetics
Zellweger Syndrome metabolism
Mutation
PHEX Phosphate Regulating Neutral Endopeptidase genetics
Peroxisomal Disorders diagnosis
Peroxisomal Disorders drug therapy
Peroxisomal Disorders genetics
Peroxisomal Disorders metabolism
Peroxisomal Disorders physiopathology
Peroxisomes metabolism
Subjects
Details
- Language :
- English
- ISSN :
- 1940-5529
- Volume :
- 17
- Issue :
- 3
- Database :
- MEDLINE
- Journal :
- Developmental disabilities research reviews
- Publication Type :
- Academic Journal
- Accession number :
- 23798008
- Full Text :
- https://doi.org/10.1002/ddrr.1113