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Related Concept Videos

Peroxisomes01:24

Peroxisomes

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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...
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Protein Import into the Peroxisomes01:27

Protein Import into the Peroxisomes

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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...
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Peroxisomes and Mitochondria01:30

Peroxisomes and Mitochondria

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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...
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Related Experiment Video

Updated: Nov 3, 2025

Large Scale Non-targeted Metabolomic Profiling of Serum by Ultra Performance Liquid Chromatography-Mass Spectrometry UPLC-MS
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Large Scale Non-targeted Metabolomic Profiling of Serum by Ultra Performance Liquid Chromatography-Mass Spectrometry UPLC-MS

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LC-MS Based Platform Simplifies Access to Metabolomics for Peroxisomal Disorders.

Henry Gerd Klemp1, Matthias Kettwig1, Frank Streit2

  • 1Department of Pediatrics and Adolescent Medicine, University Medical Center Göttingen, Robert-Koch-Str. 40, 37075 Göttingen, Germany.

Metabolites
|June 2, 2021
PubMed
Summary

This study shows a commercial kit can identify new biomarkers for peroxisomal disorders, improving diagnostics for atypical cases. It helps routine labs detect these metabolic diseases without specialized metabolomics equipment.

Keywords:
ABCD1AbsoluteIDQ p180D-BPIIIPC ae 36:4PEX1VLCFAZellweger syndrome spectrumbiocratesbiomarkermembrane lipidsmetabolomicsperoxisome biogenesis disorder

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Untargeted Metabolomics from Biological Sources Using Ultraperformance Liquid Chromatography-High Resolution Mass Spectrometry UPLC-HRMS
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Area of Science:

  • Biochemistry
  • Cell Biology
  • Human Genetics

Background:

  • Peroxisomes are vital for cellular metabolism; their dysfunction causes severe human diseases.
  • Current diagnostics for peroxisomal disorders, like VLCFA analysis, miss milder or atypical cases.
  • Metabolomics studies have identified potential new biomarkers, but their clinical implementation is challenging.

Purpose of the Study:

  • To evaluate the AbsoluteIDQ p180 kit for diagnosing peroxisomal disorders.
  • To determine if the kit can reproduce findings from global metabolomics studies.
  • To assess the kit's utility in routine diagnostic laboratories.

Main Methods:

  • Serum samples from patients with PEX1, ABCD1, and HSD17B4 gene mutations were analyzed.
  • The AbsoluteIDQ p180 kit, using flow injection and liquid chromatography mass spectrometry, was employed.
  • Metabolomic profiles were compared to identify diagnostic markers.

Main Results:

  • Significant alterations in sphingomyelins and lysophosphatidylcholines were observed in patients.
  • The kit successfully identified metabolic changes associated with peroxisomal gene mutations.
  • Key findings from previous metabolomics studies were reproducible.

Conclusions:

  • The AbsoluteIDQ p180 kit is suitable for extended diagnostics of peroxisomal disorders.
  • Routine laboratories can utilize this kit for advanced diagnosis, even without a metabolomics unit.
  • This facilitates broader access to improved diagnostic capabilities for these rare diseases.