Evidence map›Paper›PMID 38693715›Full record

ReviewJournal of inherited metabolic disease2025

Disorders of fatty acid homeostasis.

Frédéric M Vaz, Sacha Ferdinandusse, Gajja S Salomons, Ronald J A Wanders

Abstract readReview
In one paragraph

Review in Journal of inherited metabolic disease, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

8 citing papers in PubMed.

  1. Article
  2. Review
  3. Article
  4. Article
  5. Disorders of fatty acid homeostasis.Journal of inherited metabolic disease · 2025
    Review
  6. Review
  7. The Role of Linoleic Acid in Skin and Hair Health: A Review.International journal of molecular sciences · 2024
    Review
  8. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

4 authors.

Frédéric M VazDepartment of Clinical Chemistry and Pediatrics, Laboratory Genetic Metabolic Diseases, Emma Children's Hospital, Amsterdam UMC location University of Amsterdam, Amsterdam, The Netherlands.ORCID 0000-0002-9048-1041
Sacha FerdinandusseDepartment of Clinical Chemistry and Pediatrics, Laboratory Genetic Metabolic Diseases, Emma Children's Hospital, Amsterdam UMC location University of Amsterdam, Amsterdam, The Netherlands.ORCID 0000-0002-7738-5709
Gajja S SalomonsDepartment of Clinical Chemistry and Pediatrics, Laboratory Genetic Metabolic Diseases, Emma Children's Hospital, Amsterdam UMC location University of Amsterdam, Amsterdam, The Netherlands.ORCID 0000-0003-2509-3648
Ronald J A WandersDepartment of Clinical Chemistry and Pediatrics, Laboratory Genetic Metabolic Diseases, Emma Children's Hospital, Amsterdam UMC location University of Amsterdam, Amsterdam, The Netherlands.ORCID 0000-0001-7818-1452

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Humans derive fatty acids (FA) from exogenous dietary sources and/or endogenous synthesis from acetyl-CoA, although some FA are solely derived from exogenous sources ("essential FA"). Once inside cells, FA may undergo a wide variety of different modifications, which include their activation to their corresponding CoA ester, the introduction of double bonds, the 2- and ω-hydroxylation and chain elongation, thereby generating a cellular FA pool which can be used for the synthesis of more complex lipids. The biological properties of complex lipids are very much determined by their molecular composition in terms of the FA incorporated into these lipid species. This immediately explains the existence of a range of genetic diseases in man, often with severe clinical consequences caused by variants in one of the many genes coding for enzymes responsible for these FA modifications. It is the purpose of this review to describe the current state of knowledge about FA homeostasis and the genetic diseases involved. This includes the disorders of FA activation, desaturation, 2- and ω-hydroxylation, and chain elongation, but also the disorders of FA breakdown, including disorders of peroxisomal and mitochondrial α- and β-oxidation.

Indexed as

Fatty AcidsHomeostasisLipid Metabolism, Inborn ErrorsAnimalsHumansLipid MetabolismMitochondriaOxidation-ReductionFatty Acids2‐hydroxylationfatty acid elongationmitochondrial disordersperoxisomal disorders(phospho)lipid metabolismsphingolipid metabolismω‐hydroxylation

Identifiers

PMID38693715
PMCPMC11730842

What Socratic holds

Textmetadata
LicenceCC BY
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Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.