The DOI matches its Crossref record; 22 of the 23 references it cites were found in a registry or an index.
Gas chromatography/mass spectrometry analysis of very long chain fatty acids, docosahexaenoic acid, phytanic acid and plasmalogen for the screening of peroxisomal disorders
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.
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“Although other peroxisomal disorders can usually be excluded by measuring phytanic acid and plasmalogen levels,46”
From The genetic landscape of X-linked adrenoleukodystrophy: inheritance, mutations, modifier genes, and diagnosis (2015) · cites this paper as [46]
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Cites
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Odd-numbered very-long-chain fatty acids from the microbial, animal and plant kingdoms
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Metadata
- 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 › Genetics (clinical) › 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
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