Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Protein Import into the Peroxisomes01:27

Protein Import into the Peroxisomes

5.6K
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...
5.6K
Peroxisomes01:24

Peroxisomes

22.1K
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...
22.1K
Peroxisomes01:24

Peroxisomes

1.9K
1.9K
Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

1.0K
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...
1.0K
Peroxisomes and Mitochondria01:30

Peroxisomes and Mitochondria

100.8K
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...
100.8K
Pedigree Analysis01:35

Pedigree Analysis

90.7K
Overview
90.7K

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Death following high-dose AAV9 gene therapy in a patient with advanced SMA-PME.

Molecular therapy : the journal of the American Society of Gene Therapy·2026
Same author

Hepatic FGF21 is not required for fasting metabolism but guides protein appetite post energy depletion.

EMBO reports·2026
Same author

Incidental maternal glutaric aciduria type I detection through newborn screening: A case report.

Molecular genetics and metabolism reports·2026
Same author

Increased intervals in enzyme replacement therapy for stable type 1 Gaucher disease: A non-inferiority sequential trial emulation.

Journal of internal medicine·2026
Same author

Neurological and psychiatric issues in 187 adults with early-treated PKU: The ECOPHEN study.

Molecular genetics and metabolism·2025
Same author

Correction: Advanced strategies for detecting acid sphingomyelinase deficiency type B with attenuated phenotypes.

Orphanet journal of rare diseases·2025
Same journal

Predictive analytics and risk stratification models in internal medicine: from risk scores to real-time machine learning.

Presse medicale (Paris, France : 1983)·2026
Same journal

Artificial Intelligence in skin disease therapeutics: from drug discovery to personalized treatment pathways.

Presse medicale (Paris, France : 1983)·2026
Same journal

AI in clinical diagnostics in dermatology: applications, validation, and real-world use cases.

Presse medicale (Paris, France : 1983)·2026
Same journal

Artificial Intelligence in medical research and publishing: progress, risks, and future perspectives.

Presse medicale (Paris, France : 1983)·2026
Same journal

Ethical, legal, and regulatory challenges in AI-based healthcare tools.

Presse medicale (Paris, France : 1983)·2026
Same journal

Decision-making for clinicians.

Presse medicale (Paris, France : 1983)·2026
See all related articles

Related Experiment Video

Updated: Mar 25, 2026

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

491

[Hereditary peroxisomal diseases].

Leonardo Astudillo1, Frédérique Sabourdy2, Guy Touati3

  • 1CHU Purpan, service de médecine interne, Toulouse, France; Institut national de la santé et de la recherche médicale (Inserm) UMR1037, Toulouse, France; Université de Toulouse, centre de recherches en cancérologie de Toulouse (CRCT), Toulouse, France; Centre de compétence des maladies héréditaires du métabolisme Sud-Ouest, Toulouse, France.

Presse Medicale (Paris, France : 1983)
|February 23, 2016
PubMed
Summary
This summary is machine-generated.

Peroxisomes are vital organelles involved in fatty acid metabolism and detoxification. Inherited peroxisomal disorders result from genetic defects, leading to diverse clinical symptoms and requiring specific diagnostic approaches.

More Related Videos

Monitoring Stub1-Mediated Pexophagy
08:26

Monitoring Stub1-Mediated Pexophagy

Published on: May 12, 2023

2.1K
Measurement of Fatty Acid β-Oxidation in a Suspension of Freshly Isolated Mouse Hepatocytes
11:03

Measurement of Fatty Acid β-Oxidation in a Suspension of Freshly Isolated Mouse Hepatocytes

Published on: September 9, 2021

4.6K

Related Experiment Videos

Last Updated: Mar 25, 2026

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

491
Monitoring Stub1-Mediated Pexophagy
08:26

Monitoring Stub1-Mediated Pexophagy

Published on: May 12, 2023

2.1K
Measurement of Fatty Acid β-Oxidation in a Suspension of Freshly Isolated Mouse Hepatocytes
11:03

Measurement of Fatty Acid β-Oxidation in a Suspension of Freshly Isolated Mouse Hepatocytes

Published on: September 9, 2021

4.6K

Area of Science:

  • Cell Biology
  • Biochemistry
  • Genetics

Context:

  • Peroxisomes are essential intracellular organelles.
  • They perform crucial metabolic functions including fatty acid oxidation and detoxification.
  • Dysfunction leads to inherited metabolic diseases.

Purpose:

  • To review inherited peroxisomal disorders.
  • To describe their symptomatology, genetic, and biochemical basis.
  • To summarize diagnostic strategies.

Summary:

  • Peroxisomes catalyze key metabolic reactions like fatty acid beta-oxidation and alpha-oxidation.
  • Inherited disorders arise from monogenic defects affecting peroxisome biogenesis or function.
  • These diseases present heterogeneously, with neonatal, infantile, or adult forms.

Impact:

  • Provides a comprehensive overview of peroxisomal disorders.
  • Highlights the genetic and biochemical underpinnings of these diseases.
  • Aids in understanding and diagnosing a range of rare metabolic conditions.