Increased very long chain fatty acids in patients on a ketogenic diet: A cause of diagnostic confusion
Abstract
We found an elevation of very long chain fatty acids in 13 of 22 plasma samples from patients on a ketogenic diet for the treatment of uncontrolled seizures. Because elevated values of very long chain fatty acids are a biochemical manifestation of peroxisomal dysfunction, this phenomenon might lead to diagnostic confusion. Thus the history and clinical status should be considered when plasma levels of very long chain fatty acids are interpreted.
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VLCFAs are regarded as the most important biomarkers for the majority of peroxisomal disorders.
“Although VLCFAs are regarded as the most important biomarkers for the majority of peroxisomal disorders, false-positive results have been reported in approximately 2.5% of the healthy population, hemolyzed samples, and patients with a ketogenic diet [35,36].”
From Identification of a Novel Non-Canonical Splice-Site Variant in ABCD1 (2023) · cites this paper as [35]
False-positive VLCFA results have been reported in approximately 2.5% of the healthy population, hemolyzed samples, and patients with a ketogenic diet.
“Although VLCFAs are regarded as the most important biomarkers for the majority of peroxisomal disorders, false-positive results have been reported in approximately 2.5% of the healthy population, hemolyzed samples, and patients with a ketogenic diet [35,36].”
From Identification of a Novel Non-Canonical Splice-Site Variant in ABCD1 (2023) · cites this paper as [35]
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- Authors
- Theda, C., Woody, R. C., Naidu, S., Moser, A. B., & Moser, H. W.
- Affiliations
- University of Maryland, Baltimore (US)
- Kennedy Krieger Institute (US)
- Corresponding author
- Theda, Christiane
- Venue
- The Journal of Pediatrics
- Publisher
- Elsevier BV
- Published
- 1993-05
- Volume
- 122
- Issue
- 5
- Pages
- 724-726
- ISSN
- 0022-3476 (ISSN-L)
- OpenAlex
- W1999829596
- Cited by
- 44
- References
- 12
- Citations by year
- 2026: 2 · 2025: 1 · 2024: 2 · 2023: 1 · 2022: 3 · 2021: 2 · 2020: 5 · 2019: 1 · 2018: 1 · 2017: 2 · 2016: 3 · 2015: 2 · 2013: 1 · 2012: 3
- FWCI
- 0.26
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- The Journal of Pediatrics (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Health Sciences › Medicine › Physiology › Diet and metabolism studies
- Health Sciences › Medicine › Physiology › Dietary Effects on Health
- Keywords
- very long chain fatty acids, ketogenic diet, peroxisomal dysfunction, uncontrolled seizures, diagnostic confusion, plasma lipid levels, inborn errors of metabolism
- MeSH terms
- Adolescent, Child, Child, Preschool, Dietary Fats, Epilepsy, Fatty Acids, Female, Humans, Infant, Ketone Bodies, Male
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