Evidence map›Paper›PMID 41155433›Full record

ReviewInternational journal of molecular sciences2025

How Genes Meet Diet in LCHAD Deficiency: Nutrigenomics of Fatty Acid Oxidation Disorder.

Zdzislaw Kochan, Joanna Karbowska

Abstract readReview
In one paragraph

Review in International journal of molecular sciences, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. Review
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

2 authors.

Zdzislaw KochanLaboratory of Nutritional Biochemistry, Department of Clinical Nutrition, Medical University of Gdansk, 80-211 Gdansk, Poland.ORCID 0000-0002-0090-0725
Joanna KarbowskaDepartment of Biochemistry, Medical University of Gdansk, 80-211 Gdansk, Poland.ORCID 0000-0003-4978-3600

Funding

Gdańsk Medical University 02-0132/07/316
6 · The paper itself

Abstract

Mitochondrial long-chain fatty acid β-oxidation supplies energy to the heart, liver, and skeletal muscle. Impairment of this process due to a block at the step catalyzed by long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) leads to bioenergetic failure, manifesting as hypoglycemia, recurrent rhabdomyolysis, cardiomyopathy, and hepatic dysfunction. Accumulation of toxic intermediates-long-chain 3-hydroxyacyl-CoAs and the corresponding 3-hydroxyacylcarnitines-contributes to pigmentary retinopathy and peripheral neuropathy. Early diagnosis and careful dietary management can reduce life-threatening decompensation in childhood and improve survival into adulthood. This review examines the genetics of human LCHAD deficiency, describes its multisystem complications, and outlines nutritional strategies used to bypass the enzymatic block. We also explore nutrigenomic signals elicited by dietary treatment in LCHAD deficiency.

Indexed as

DietFatty AcidsLipid Metabolism, Inborn ErrorsLong-Chain-3-Hydroxyacyl-CoA DehydrogenaseNutrigenomicsCardiomyopathiesHumansMitochondrial Trifunctional ProteinMuscular DiseasesOxidation-ReductionFatty AcidsLong-Chain-3-Hydroxyacyl-CoA DehydrogenaseMitochondrial Trifunctional Proteinfatty acid oxidationhumanMCTmedium-chain fatty acidsmitochondrial diseasesnutritional regulationnutritional therapy

Identifiers

PMID41155433
PMCPMC12563501

What Socratic holds

Textmetadata
LicenceCC BY
Read underepoch 390

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.