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

Human mutation - 1 Jan 2026

Richbourg Heather, Rangel Miller Vanessa, Khazaie Japalaghi Omid, AlSayed Moeenaldeen, Baker Peter R, Daugherty Sean, Ekstein Tali, Grünert Sarah C, Kiel Mark J, Khan Aneal, Kobayashi Hironori, Korngut Lawrence, Monteleone Stephanie A, Schwartz Ida Vanessa D, Miller Nicole, Vockley Jerry

Abstract excerpt

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...

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Topics

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Share to Acyl-CoA Dehydrogenase, Long-Chain
Share to Cardiomyopathies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Carnitine O-Palmitoyltransferase

Share to Databases, Genetic

Share to Fatty Acids

Share to Genetic Association Studies

Share to Lipid Metabolism, Inborn Errors

Share to Oxidation-Reduction

Source

Open in PubMed Open full text

Identifiers

PMID: 42422157
DOI: 10.1155/humu/6864813
PMCID: PMC13342283

Genes

HADHA
ACADVL
CPT1A
CPT2
HADHB
SLC25A20

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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