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Related Concept Videos

Protein Import into the Peroxisomes01:27

Protein Import into the Peroxisomes

Cells contain membrane-bound organelles called peroxisomes that oxidize organic molecules by transferring hydrogen atoms to oxygen, producing hydrogen peroxide. Peroxisomes enzymatically convert the released hydrogen peroxide into water and oxygen.
Peroxisomal Protein Import:
Peroxisomes lack the genetic machinery required to code for their own proteins. Hence, most peroxisomal membrane, lumenal and transmembrane proteins are synthesized in the cytoplasm or ER and transported to the peroxisome...
Peroxisomes01:24

Peroxisomes

Peroxisomes are specialized organelles present in fungi, plant, and animal cells. It can vary in number, size, morphology, and activity depending on the type of tissue and the nutritional state of the cell. For example, cells with active lipid metabolism, such as adipocytes, neurons, and hepatocytes, have more peroxisomes than other cells in the body. Besides their primary role in breaking down complex organic molecules, peroxisomes can also synthesize specific macromolecules and participate in...
Peroxisomes and Mitochondria01:30

Peroxisomes and Mitochondria

Peroxisomes and mitochondria are two important oxygen-utilizing organelles in eukaryotic cells. Mitochondria carry out cellular respiration—the process that converts energy from food into ATP. Peroxisomes carry out a variety of functions, primarily breaking down different substances, such as fatty acids.
The peroxisome is a single membrane-bound cellular organelle that can perform several different functions, including lipid metabolism and chemical detoxification. The enzymes within peroxisomes...
Peroxisomes01:24

Peroxisomes

Peroxisomes are specialized organelles present in fungi, plant, and animal cells. It can vary in number, size, morphology, and activity depending on the type of tissue and the nutritional state of the cell. For example, cells with active lipid metabolism, such as adipocytes, neurons, and hepatocytes, have more peroxisomes than other cells in the body. Besides their primary role in breaking down complex organic molecules, peroxisomes can also synthesize specific macromolecules and participate in...
Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
Lysosomal Hydrolases01:22

Lysosomal Hydrolases

Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...

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Peroxisome Staining in Mammalian Cells Using Peroxisome-Specific Probes
05:57

Peroxisome Staining in Mammalian Cells Using Peroxisome-Specific Probes

Published on: December 19, 2025

Peroxisomal disorders.

Patrick Aubourg1, Ronald Wanders

  • 1Department of Pediatric Neurology, INSERM UM745, University Paris-Descartes, Hôpital Bicêtre-Paris Sud, Paris, France.

Handbook of Clinical Neurology
|April 30, 2013
PubMed
Summary
This summary is machine-generated.

Peroxisomal disorders are genetic diseases impairing peroxisomal functions. This review details their clinical, biochemical, and molecular aspects, aiding diagnosis and highlighting limited therapeutic options, primarily for X-linked adrenoleukodystrophy.

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Area of Science:

  • Genetics
  • Biochemistry
  • Cell Biology

Background:

  • Peroxisomal disorders are genetic conditions affecting peroxisomal functions.
  • These disorders are classified into peroxisome biogenesis disorders (PBDs), single enzyme deficiencies, and substrate transport deficiencies.

Purpose of the Study:

  • To review the clinical, biochemical, cellular, and molecular aspects of peroxisomal diseases.
  • To provide guidelines for post- and prenatal diagnosis.
  • To outline current therapeutic interventions.

Main Methods:

  • Review of existing literature on peroxisomal disorders.
  • Classification of peroxisomal diseases based on affected function.
  • Summary of diagnostic criteria and therapeutic approaches.

Main Results:

  • Peroxisomal disorders encompass PBDs (Zellweger spectrum, RCDP), single enzyme deficiencies (e.g., D-bifunctional protein deficiency), and X-linked adrenoleukodystrophy.
  • Zellweger spectrum disorders range in severity, with Zellweger syndrome being most severe.
  • Therapeutic interventions are predominantly available for X-linked adrenoleukodystrophy.

Conclusions:

  • Peroxisomal disorders are a diverse group of genetic diseases with varying clinical presentations and molecular bases.
  • Accurate diagnosis relies on understanding clinical, biochemical, and cellular features.
  • Limited treatment options necessitate further research and development.