Peroxisomal disorders
- 1 December 1999
- journal article
- review article
- Published by Wolters Kluwer Health in Current Opinion in Pediatrics
- Vol. 11 (6) , 572-576
- https://doi.org/10.1097/00008480-199912000-00017
Abstract
Peroxisomes, subcellular organelles found in nearly all eukaryotic cells, are involved in numerous biochemical functions within the cell. There has been an increasing understanding of the genetic mechanism of the diseases of the single peroxisomal enzyme abnormalities as well as defects of peroxisome biogenesis, Peroxisome assembly disorders including Zellweger syndrome and rhizomelic chondrodysplasia punc-tata are caused by genetic defects in PEX genes and the altering of their proteins, peroxins, which are necessary for the importation of targeted proteins into the peroxisomes. Therapies for peroxisomal disorders have been unsatisfactory to date, but there has been interest in docosahexaenoic acid in assembly disorders and phenylbutyrate and lovastatin in adrenoleukodystrophy (ALD). Whether any of these therapies will result in clinical improvement awaits additional study. Curr Opin Pediatr 11572–576 © 1999 Lippincott Williams & Wilkins, Inc.Keywords
This publication has 17 references indexed in Scilit:
- Plasma very long chain fatty acids in 3,000 peroxisome disease patients and 29,000 controlsAnnals of Neurology, 1999
- Temperature-sensitive mutation in PEX1 moderates the phenotypes of peroxisome deficiency disordersHuman Molecular Genetics, 1998
- An isoform of pex5p, the human PTS1 receptor, is required for the import of PTS2 proteins into peroxisomesHuman Molecular Genetics, 1998
- Disruption of a PEX1–PEX6 interaction is the most common cause of the neurologic disorders Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum diseaseProceedings of the National Academy of Sciences, 1998
- Fish oil and myelinNeurology, 1998
- Peroxisome biogenesis: Back to the endoplasmic reticulum?Current Biology, 1998
- Mutations in PEX1 are the most common cause of peroxisome biogenesis disordersNature Genetics, 1997
- PEX genes on the riseNature Genetics, 1997
- Disorders of peroxisome biogenesisHuman Molecular Genetics, 1995
- Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groupsThe Journal of Pediatrics, 1995