UNIT 17.6 Investigational Methods for Peroxisomal Disorders

  1. Steven Steinberg1,2,3,
  2. Richard Jones2,3,
  3. Carol Tiffany2,3,
  4. Ann Moser2,3

Published Online: 1 JUL 2008

DOI: 10.1002/0471142905.hg1706s58

Current Protocols in Human Genetics

Current Protocols in Human Genetics

How to Cite

Steinberg, S., Jones, R., Tiffany, C. and Moser, A. 2008. Investigational Methods for Peroxisomal Disorders. Current Protocols in Human Genetics. 58:17.6:17.6.1–17.6.23.

Author Information

  1. 1

    McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland

  2. 2

    Kennedy Krieger Institute, Baltimore, Maryland

  3. 3

    Department of Neurology and Neurosurgery, Johns Hopkins University School of Medicine, Baltimore, Maryland

Publication History

  1. Published Online: 1 JUL 2008
  2. Published Print: JUL 2008


Peroxisomes play an important role in cellular metabolism. Defects in peroxisome assembly or of a single peroxisomal pathway are associated with a wide variety of inherited disorders, including X-linked adrenoleukodystrophy, Zellweger spectrum disorders, rhizomelic chondrodysplasia punctata, and Refsum disease. A group of peroxisome-specific biomarkers has been shown to be characteristic of specific defects. Patients with defects in peroxisome fatty acid β-oxidation accumulate very long–chain fatty acids (VLCFA), patients with defects in plasmalogen synthesis are deficient in erythrocyte membrane plasmalogens, and patients with mislocalized pipecolic acid oxidase accumulate pipecolic acid in body fluids. 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. These techniques can be used to identify the majority of patients with known neurogenetic peroxisome disorders. Curr. Protoc. Hum. Genet. 58:17.6.1-17.6.23. © 2008 by John Wiley & Sons, Inc.


  • very long–chain fatty acids (VLCFA);
  • pipecolic acid;
  • plasmalogens;
  • gas chromatograph-mass spectrometry (GC-MS);
  • X-linked adrenoleukodystrophy (X-ALD);
  • peroxisome biogenesis disorder (PBD)