Metabolic and molecular basis of peroxisomal disorders: A review

@article{Wanders2004MetabolicAM,
  title={Metabolic and molecular basis of peroxisomal disorders: A review},
  author={Ronald J. A. Wanders},
  journal={American Journal of Medical Genetics Part A},
  year={2004},
  volume={126A}
}
  • R. Wanders
  • Published 2004
  • Biology, Medicine
  • American Journal of Medical Genetics Part A
The group of peroxisomal disorders now includes 17 different disorders with Zellweger syndrome as prototype. Thanks to the explosion of new information about the functions and biogenesis of peroxisomes, the metabolic and molecular basis of most of the peroxisomal disorders has been resolved. A review of peroxisomal disorders is provided in this paper. © 2004 Wiley‐Liss, Inc. 
The mouse as a model to understand peroxisomal biogenesis and its disorders
TLDR
Although the mutant mice with defined peroxisomal defects have the same biochemical defects as patients, the mutant phenotype of these mice is often rather different from the human disorders for which no effective therapy is currently available. Expand
Peroxisomal disorders: the single peroxisomal enzyme deficiencies.
TLDR
This review is focused on the second group of disorders, which currently includes ten different diseases in which the mutant gene affects a protein involved in one of the following peroxisomal functions: ether phospholipid (plasmalogen) biosynthesis, fatty acid beta-oxidation, glyoxylate detoxification, and H2O2 metabolism. Expand
Inborn Errors of Metabolism Involving Complex Molecules: Lysosomal and Peroxisomal Storage Diseases.
TLDR
The human diseases related to these two organelles are reviewed, focusing on general disease patterns and underlying diagnosis and treatment principles. Expand
Peroxisomal Biogenesis: Genetic Disorders Reveal the Mechanisms
TLDR
An overview of the evidence that involves the endoplasmic reticulum (ER) from the most important genetic tools in the field: fibroblast cultures derived from Zellweger patients and yeast mutants is given. Expand
Investigational Methods for Peroxisomal Disorders
TLDR
This unit describes three protocols that can be used to measure plasma VLCFA, erythrocyte plasmalogens, and plasma or urine pipecolic acid by capillary gas chromatography (GC) or GC‐mass spectrometry, used to identify the majority of patients with known neurogenetic peroxisome disorders. Expand
Zellweger Syndrome: A Genetic Disorder That Alters Lipid Biosynthesis And Metabolism
TLDR
The rationale behind palliative treatment and the role of healthcare providers in supportive care is emphasized for both affected children and their parents and the abnormal biochemical pathways and diagnosis of the disease are discussed. Expand
Peroxisomal disorders.
TLDR
The purpose of this chapter is to describe the current state of knowledge about the clinical, biochemical, cellular, and molecular aspects of peroxisomal diseases, and to provide guidelines for their post- and prenatal diagnosis. Expand
A case of zellweger syndrome accompanied by hypertrophic cardiomyopathy
TLDR
A newborn is presented with Zellweger syndrome and hypertrophic cardiomyopathy, defined as septal or posterior wall thickness that is more than two standard deviations above the mean normal thickness measured by echocardiography. Expand
Molecular basis of peroxisomal biogenesis disorders caused by defects in peroxisomal matrix protein import.
TLDR
Recent data derived from both human cell culture as well as model organisms like yeasts are discussed and an overview on the molecular mechanism underlying peroxisomal biogenesis disorders with emphasis on disorders caused by defects in the perox isomal matrix protein import machinery is presented. Expand
Biochemistry of mammalian peroxisomes revisited.
TLDR
The identification and characterization of yeast mutants defective either in the biogenesis of peroxisomes or in one of its metabolic functions, notably fatty acid beta-oxidation, combined with the recognition of a group of genetic diseases in man, wherein these processes are also defective, have provided new insights in all aspects of perxisomes. Expand
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TLDR
The peroxisomal disorders recognized at present comprise 12 different diseases, with neurological involvements in 10 of them, and it is indicated that currently used clinical categories do not represent distinct genotypes. Expand
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TLDR
Identification of the genes required for peroxisome biogenesis is proceeding at a rapid pace helped immeasurably by work in other species, particularly various yeasts, to understand how their protein products interact to produce normal appearing and functioningperoxisomes. Expand
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TLDR
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TLDR
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