ReviewJournal of clinical medicine2021
Biochemical Markers for the Diagnosis of Mitochondrial Fatty Acid Oxidation Diseases.
Review in Journal of clinical medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.
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Who cites it
32 citing papers in PubMed.
- Metabolic phenotypes of doxorubicin-induced cardiotoxicity among patients with breast cancer.Metabolomics : Official journal of the Metabolomic Society · 2026Article
- Mitochondrial Adaptations to Exercise Training in Equine Skeletal Muscle: A Narrative Review.Life (Basel, Switzerland) · 2026Review
- Exploring Acylcarnitine Metabolism Using Reverse Metabolomics.Analytical chemistry · 2026Article
- Understanding the microRNA signature associated with Reye's syndrome.Protoplasma · 2026Review
- Targeting the powerhouse: the mitochondrial perspective on gentamicin-induced kidney injury.Archives of toxicology · 2026Review
- Integrated metabolomic and transcriptomic analysis reveals novel plasma biomarkers and metabolic pathway dysregulation in latent tuberculosis infection.Microbiology spectrum · 2026Article
- Metabolic Myopathies and HyperCKemia in Adulthood: A Clinical Approach to Diagnosis and Management.Journal of clinical medicine · 2026Review
- Dodecanedioic Acid: Alternative Carbon Substrate or Toxic Metabolite?Biomolecules · 2025Article
- Metabolic Profiling of Wheat Seedlings Under Oxygen Deficiency and Subsequent Reaeration Conditions.International journal of molecular sciences · 2025Article
- Prenatal Organophosphate Pesticide Exposure and Targeted Maternal Pregnancy Metabolomic Profiles in the NYU CHES Cohort.Environmental science & technology · 2025Article
- Lipidomic profiling of human adiposomes identifies specific lipid shifts linked to obesity and cardiometabolic risk.JCI insight · 2025Article
- Type I interferon and mitochondrial dysfunction are associated with dysregulated cytotoxic CD8+ T cell responses in juvenile systemic lupus erythematosus.Clinical and experimental immunology · 2025Article
- Lipid storage myopathy associated with sertraline treatment is an acquired mitochondrial disorder with respiratory chain deficiency.Acta neuropathologica · 2024Article
- Review
- Medium-chain dicarboxylic acids: chemistry, pharmacological properties, and applications in modern pharmaceutical and cosmetics industries.RSC advances · 2024Review
- A review of fatty acid oxidation disorder mouse models.Molecular genetics and metabolism · 2024Review
- Article
- Uremic Toxins and Inflammation: Metabolic Pathways Affected in Non-Dialysis-Dependent Stage 5 Chronic Kidney Disease.Biomedicines · 2024Article
- Dietary intervention reverses molecular markers of hepatocellular senescence in the GAN diet-induced obese and biopsy-confirmed mouse model of NASH.BMC gastroenterology · 2024Article
- Clinical, biochemical, and genetic spectrum of MADD in a South African cohort: an ICGNMD study.Orphanet journal of rare diseases · 2024Article
Corrections and comments
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Authors and funding
2 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mitochondrial fatty acid β-oxidation (FAO) contributes a large proportion to the body's energy needs in fasting and in situations of metabolic stress. Most tissues use energy from fatty acids, particularly the heart, skeletal muscle and the liver. In the brain, ketone bodies formed from FAO in the liver are used as the main source of energy. The mitochondrial fatty acid oxidation disorders (FAODs), which include the carnitine system defects, constitute a group of diseases with several types and subtypes and with variable clinical spectrum and prognosis, from paucisymptomatic cases to more severe affectations, with a 5% rate of sudden death in childhood, and with fasting hypoketotic hypoglycemia frequently occurring. The implementation of newborn screening programs has resulted in new challenges in diagnosis, with the detection of new phenotypes as well as carriers and false positive cases. In this article, a review of the biochemical markers used for the diagnosis of FAODs is presented. The analysis of acylcarnitines by MS/MS contributes to improving the biochemical diagnosis, both in affected patients and in newborn screening, but acylglycines, organic acids, and other metabolites are also reported. Moreover, this review recommends caution, and outlines the differences in the interpretation of the biomarkers depending on age, clinical situation and types of samples or techniques.
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