Evidence map›Paper›PMID 42422157›Full record

ArticleHuman mutation2026

Long-Chain Fatty Acid Oxidation Disorder Genes: A Comprehensive Genetic Database of LC-FAOD Variants, Genotypes, and Phenotypes.

Heather Richbourg, Vanessa Rangel Miller, Omid Khazaie Japalaghi, Moeenaldeen AlSayed, Peter R Baker, Sean Daugherty, Tali Ekstein, Sarah C Grünert, Mark J Kiel, Aneal Khan and 6 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Human mutation, 2026. 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. 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

16 authors.

Heather RichbourgUltragenyx Pharmaceutical Inc., Novato, California, USA.ORCID https://orcid.org/0000-0002-4081-1073
Vanessa Rangel MillerUltragenyx Pharmaceutical Inc., Novato, California, USA.ORCID https://orcid.org/0000-0002-6966-2497
Omid Khazaie JapalaghiUltragenyx Pharmaceutical Inc., Novato, California, USA.ORCID https://orcid.org/0009-0003-3967-6796
Moeenaldeen AlSayedCollege of Medicine, Al-Faisal University, Riyadh, Riyadh Province, Saudi Arabia, alfaisal.edu.ORCID https://orcid.org/0000-0003-1995-8465
Peter R BakerAnschutz Medical Campus, University of Colorado, Aurora, Colorado, USA, colorado.edu.
Sean DaughertyUltragenyx Pharmaceutical Inc., Novato, California, USA.ORCID https://orcid.org/0000-0001-9311-9083
Tali EksteinLabcorp, San Francisco, California, USA.ORCID https://orcid.org/0000-0003-0391-5612
Sarah C GrünertChildren's Hospital, Department of Pediatrics, Adolescent Medicine and Neonatology, Faculty of Medicine, Freiburg University Hospital, Freiburg, Baden-Württemberg, Germany.ORCID https://orcid.org/0000-0001-5986-0468
Mark J KielGenomenon, Ann Arbor, Michigan, USA.ORCID https://orcid.org/0000-0003-0931-1983
Aneal KhanM.A.G.I.C. (Metabolics and Genetics in Canada) Clinic Ltd., Calgary, Alberta, Canada.
Hironori KobayashiLaboratories Division, Shimane University Hospital, Izumo, Shimane Prefecture, Japan, shimane-u.ac.jp.ORCID https://orcid.org/0000-0001-9091-3521
Lawrence KorngutDepartment of Clinical Neurosciences, University of Calgary, Calgary, Alberta, Canada, ucalgary.ca.
Stephanie A MonteleoneGenomenon, Ann Arbor, Michigan, USA.ORCID https://orcid.org/0000-0002-4907-054X
Ida Vanessa D SchwartzHospital de Clinicas, Porto Alegre, Rio Grande do Sul, Brazil.ORCID https://orcid.org/0000-0002-7933-6687
Nicole MillerUltragenyx Pharmaceutical Inc., Novato, California, USA.ORCID https://orcid.org/0009-0006-8914-700X
Jerry VockleyDivision of Medical Genetics and Center for Rare Disease Therapy, University of Pittsburgh, Pittsburgh, Pennsylvania, USA, pitt.edu.ORCID https://orcid.org/0000-0002-8180-6457

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Long-chain fatty acid oxidation disorders (LC-FAODs) are characterized by the inability to metabolize long-chain fatty acids. Serious clinical manifestations occur, including cardiomyopathy, hypoglycemia, rhabdomyolysis, and liver failure. Confirming a diagnosis with genetic testing is complicated by the rarity of the disorders, genetic and phenotypic heterogeneity, and the high frequency of variants of uncertain significance. A new locus-specific database for variants in the six genes associated with LC-FAOD was established to collect and disseminate information about disease-associated variants in

Indexed as

Databases, GeneticFatty AcidsLipid Metabolism, Inborn ErrorsAcyl-CoA Dehydrogenase, Long-ChainCardiomyopathiesCarnitine O-PalmitoyltransferaseGenetic Association StudiesGenotypeHumansMutationOxidation-ReductionPhenotypeAcyl-CoA Dehydrogenase, Long-ChainCarnitine O-PalmitoyltransferaseFatty Acidscardiomyopathyhypoglycemialocus-specific databaselong-chain fatty acid oxidation disorders (LC-FAODs)rhabdomyolysis

Identifiers

PMID42422157
PMCPMC13342283

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.