ReviewJournal of lipid and atherosclerosis2020
Mitochondrial Fatty Acid Oxidation Disorders: Laboratory Diagnosis, Pathogenesis, and the Complicated Route to Treatment.
Review in Journal of lipid and atherosclerosis, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
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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.
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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.
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Who cites it
29 citing papers in PubMed, 67 citations in OpenAlex.
- Dynamic Metabolic Profiling and Diagnostic Biomarkers of Acute Graft-Versus-Host Disease Based on Metabolomics.Biomedical chromatography : BMC · 2026Article
- Review
- Diet-Induced Ceramide Remodeling as a Mechanistic Link to Cardiac Metabolic Dysfunction.Nutrients · 2026Review
- Serum acylcarnitine to amide ratio as a predictive biomarker for the progression of pulmonary disease caused byERJ open research · 2026Article
- Direct Prediction of VLCADD Severity Using Newborn Screening Analyte Data.Journal of inherited metabolic disease · 2026Article
- Elamipretide Improves Mitochondrial Function in Mitochondrial Trifunctional Protein-Deficient Mice and Human Fibroblasts.Journal of inherited metabolic disease · 2026Article
- Lipidomic Profiling of Red Blood Cells in the Mitochondrial Fatty Acid β-oxidation Disorder MCADD Reveals Phospholipid and Sphingolipid Dysregulation.Journal of proteome research · 2025Article
- Myopathic Symptoms and Exercise Tolerance in Adolescent Patients With Long-Chain Fatty Acid Oxidation Disorders.Journal of inherited metabolic disease · 2025Article
- ACAD10 and ACAD11 enable mammalian 4-hydroxy acid lipid catabolism.Nature structural & molecular biology · 2025Article
- In-depth characterization of acylcarnitines: utilizing nitroxide radical-directed dissociation in tandem mass spectrometry.Analytical and bioanalytical chemistry · 2025Article
- Disorders of fatty acid homeostasis.Journal of inherited metabolic disease · 2025Review
- L-carnitine: new perspectives on the management of preterm infants.Frontiers in nutrition · 2025Review
- HomozygousMolecular genetics and metabolism reports · 2024Article
- Multiomics Characterization of a Less Invasive Microfluidic-Based Cell Sorting Technique.Journal of proteome research · 2024Article
- Dual mass spectrometry imaging and spatial metabolomics to investigate the metabolism and nephrotoxicity of nitidine chloride.Journal of pharmaceutical analysis · 2024Article
- Inhibition of Drp1-Filamin Protein Complex Prevents Hepatic Lipid Droplet Accumulation by Increasing Mitochondria-Lipid Droplet Contact.International journal of molecular sciences · 2024Article
- Simultaneously quantifying hundreds of acylcarnitines in multiple biological matrices within ten minutes using ultrahigh-performance liquid-chromatography and tandem mass spectrometry.Journal of pharmaceutical analysis · 2024Article
- Adapting lipidomic sample processing methods for boars housed in commercial settings.Translational animal science · 2024Article
- Boosting Mitochondrial Biogenesis Diminishes Foam Cell Formation in the Post-Stroke Brain.International journal of molecular sciences · 2023Article
- Elucidating the Pharmacological Properties ofNutrients · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mitochondrial fatty acid (FA) oxidation deficiencies represent a genetically heterogeneous group of diseases in humans caused by defects in mitochondrial FA beta-oxidation (mFAO). A general characteristic of all mFAO disorders is hypoketotic hypoglycemia resulting from the enhanced reliance on glucose oxidation and the inability to synthesize ketone bodies from FAs. Patients with a defect in the oxidation of long-chain FAs are at risk to develop cardiac and skeletal muscle abnormalities including cardiomyopathy and arrhythmias, which may progress into early death, as well as rhabdomyolysis and exercise intolerance. The diagnosis of mFAO-deficient patients has greatly been helped by revolutionary developments in the field of tandem mass spectrometry (MS) for the analysis of acylcarnitines in blood and/or urine of candidate patients. Indeed, acylcarnitines have turned out to be excellent biomarkers; not only do they provide information whether a certain patient is affected by a mFAO deficiency, but the acylcarnitine profile itself usually immediately points to which enzyme is likely deficient. Another important aspect of acylcarnitine analysis by tandem MS is that this technique allows high-throughput analysis, which explains why screening for mFAO deficiencies has now been introduced in many newborn screening programs worldwide. In this review, we will describe the current state of knowledge about mFAO deficiencies, with particular emphasis on recent developments in the area of pathophysiology and treatment.
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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 OpenQuestion graph.