Cited by 101Metabolism and Genetic DisordersLysosomal Storage Disorders ResearchNeurological diseases and metabolism

Gas chromatography/mass spectrometry analysis of very long chain fatty acids, docosahexaenoic acid, phytanic acid and plasmalogen for the screening of peroxisomal disorders

Takemoto, Yasuhiko, Suzuki, Yasuyuki, Horibe, Ryoko, Shimozawa, Nobuyuki, Wanders, Ronald J.A., Kondo, Naomi·2003·Brain and Development

Abstract

Very long chain fatty acids (VLCFAs) and docosahexaenoic acid (DHA), phytanic acid, and plasmalogens are usually measured individually. A novel method for the screening of peroxisomal disorders, using gas chromatography/mass spectrometry (GC/MS), was developed. Saturated and unsaturated fatty acids, including VLCFAs and DHA, phytanic acid, and plasmalogen were detected by a selected ion monitoring-electron impact method, using 100 microl of serum or plasma. Methyl-esterification and extraction could be done in one tube, and data were obtained within 4 h. All patients with Zellweger syndrome (ZS), X-linked adrenoleukodystrophy (ALD), isolated deficiency of peroxisomal beta-oxidation enzyme, and most ALD carriers showed increased VLCFA ratios, including C24:0/C22:0, C25:0/C22:0 and C26:0/C22:0. The ratio of DHA to palmitic acid (C16:0) and plasmalogen (measured as hexadecanal dimethyl acetal) to C16:0 in ZS patients was significantly lower than for the controls (P<0.001 for healthy high school students, P<0.05 for infants with other disorders). Plasmalogen was also decreased in patients with isolated deficiency of plasmalogen biosynthesis. Two of eight patients with ZS, two of four with RCDP, and all of three classical Refsum patients showed increased levels of phytanic acid. This method will simplify the screening for peroxisomal disorders.

Integrity signals

Registry

Crossref · 10.1016/s0387-7604(03)00033-0

Cites

23 of 23 references verified0 citation errors · 0 not checkable

Statistics

Recomputing p-values needs the paper’s full text.

Claims the paper makes

This paper’s full text isn’t openly available, so its claims and self-check weren’t run. The registry and citation checks still apply.

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

Cites

Flagged first, then by citations

Cited by

Sorted by citations

Authors
Takemoto, Y., Suzuki, Y., Horibe, R., Shimozawa, N., Wanders, R. J. A., & Kondo, N.
Affiliations
  • Gifu University (JP)
  • Amsterdam UMC Location University of Amsterdam (NL)
Venue
Brain and Development
Publisher
Elsevier BV
Published
2003-10
Volume
25
Issue
7
Pages
481-487
ISSN
0387-7604 (ISSN-L)
OpenAlex
W2141933546
Cited by
101
References
23
Citations by year
2026: 3 · 2025: 2 · 2024: 2 · 2023: 4 · 2022: 1 · 2021: 3 · 2020: 7 · 2019: 7 · 2018: 3 · 2017: 13 · 2016: 1 · 2015: 11 · 2014: 3 · 2013: 3 · 2012: 7
FWCI
1.59
Type
journal article
Language
en
Open access
closed
Locations
  • Brain and Development (publishedVersion)
  • PubMed (publishedVersion)
  • Data Archiving and Networked Services (DANS) (submittedVersion)
  • Pure Amsterdam UMC (submittedVersion)
Funders
  • Ministry of Health, Labour and Welfare (12670739)
  • Ministry of Education, Culture, Sports, Science and Technology
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
  • Health Sciences › Medicine › Physiology › Lysosomal Storage Disorders Research
  • Life Sciences › Neuroscience › Neurology › Neurological diseases and metabolism
Keywords
peroxisomal disorders, very long chain fatty acids, docosahexaenoic acid, phytanic acid, plasmalogens, Zellweger syndrome, X-linked adrenoleukodystrophy, Refsum disease, selected ion monitoring, methyl esterification
MeSH terms
Adolescent, Adrenoleukodystrophy, Docosahexaenoic Acids, Fatty Acids, Humans, Infant, Gas Chromatography-Mass Spectrometry, Phytanic Acid, Plasmalogens, Refsum Disease, Zellweger Syndrome, Case-Control Studies, Peroxisomal Disorders

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review