ReviewJournal of inherited metabolic disease2013
Pathophysiology of fatty acid oxidation disorders and resultant phenotypic variability.
Review in Journal of inherited metabolic disease, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers.
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Who cites it
38 citing papers in PubMed, 81 citations in OpenAlex.
- Energetic stress in combination with impaired fatty acid oxidation induces sequestration of CoA and adaptation of CoA metabolism.The FEBS journal · 2026Article
- High-fat diet reshapes microbial interactions to promote breast cancer stemness via Streptococcus mutans-induced leucine accumulation.Breast cancer research : BCR · 2026Article
- Transient exposure to bisphenol F in early life affects the metabolic health of adults.Exposome · 2026Article
- The Role of Exercise in Fat Oxidation and Its Impact on Adolescent Metabolism.Advances in experimental medicine and biology · 2026Review
- Metabolic cardiomyopathies: untangling clinical heterogeneity with human stem-cell derived models.EMBO molecular medicine · 2025Review
- Perioperative Anesthetic Considerations in HMG-CoA Lyase Deficiency: Case Report and Literature Review.Journal of clinical medicine · 2025Article
- Deletion of PTP1B in cardiomyocytes alters cardiac metabolic signaling to protect against cardiomyopathy induced by a high-fat diet.Science signaling · 2025Article
- Migratory and intermittent polyarthritis as an atypical presentation of carnitine palmitoyltransferase II deficiency with positive response to treatment with Interleukin-1 receptor antagonist: a case presentation and case-based review.Rheumatology international · 2025Review
- Circulatory response to exercise relative to oxygen uptake assessed in the follow-up of patients with fatty acid beta-oxidation disorders.Journal of inherited metabolic disease · 2025Article
- Very long-chain acyl-CoA dehydrogenase deficiency revisited: a retrospective genotype-phenotype analysis in a Saudi tertiary center.Frontiers in genetics · 2025Article
- Unlocking lung regeneration: insights into progenitor cell dynamics and metabolic control.Cell regeneration (London, England) · 2024Review
- Chronic cold exposure causes left ventricular hypertrophy that appears to be physiological.The Journal of experimental biology · 2024Article
- Structural Elucidation and Relative Quantification of Fatty Acid Double Bond Positional Isomers in Biological Tissues Enabled by Gas-Phase Charge Inversion Ion/Ion Reactions.Analysis & sensing · 2024Article
- Anesthetic Management and Neuromonitoring in a Patient with Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency Undergoing Scoliosis Surgery: A Case Report and Review of Literature.Case reports in anesthesiology · 2024Article
- Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency: Family Impact and Perspectives.International journal of neonatal screening · 2023Article
- Untargeted Metabolomics Identifies Biomarkers for MCADD Neonates in Dried Blood Spots.International journal of molecular sciences · 2023Article
- Mitochondrial Fatty Acid β-Oxidation Disorders: From Disease to Lipidomic Studies-A Critical Review.International journal of molecular sciences · 2022Review
- Hyperammonemia in Inherited Metabolic Diseases.Cellular and molecular neurobiology · 2022Review
- Impact of Sustained Exogenous Irisin Myokine Administration on Muscle and Myocyte Integrity in Sprague Dawley Rats.Metabolites · 2022Article
- SCP2 variant is associated with alterations in lipid metabolism, brainstem neurodegeneration, and testicular defects.Human genomics · 2022Article
Corrections and comments
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Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Fatty acids are a major fuel for the body and fatty acid oxidation is particularly important during fasting, sustained aerobic exercise and stress. The myocardium and resting skeletal muscle utilise long-chain fatty acids as a major source of energy. Inherited disorders affecting fatty acid oxidation seriously compromise the function of muscle and other highly energy-dependent tissues such as brain, nerve, heart, kidney and liver. Such defects encompass a wide spectrum of clinical disease, presenting in the neonatal period or infancy with recurrent hypoketotic hypoglycaemic encephalopathy, liver dysfunction, hyperammonaemia and often cardiac dysfunction. In older children, adolescence or adults there is often exercise intolerance with episodic myalgia or rhabdomyolysis in association with prolonged aerobic exercise or other exacerbating factors. Some disorders are particularly associated with toxic metabolites that may contribute to encephalopathy, polyneuropathy, axonopathy and pigmentary retinopathy. The phenotypic diversity encountered in defects of fat oxidation is partly explained by genotype/phenotype correlation and certain identifiable environmental factors but there remain many unresolved questions regarding the complex interaction of genetic, epigenetic and environmental influences that dictate phenotypic expression. It is becoming increasingly clear that the view that most inherited disorders are purely monogenic diseases is a naive concept. In the future our approach to understanding the phenotypic diversity and management of patients will be more realistically achieved from a polygenic perspective.
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