ReviewJournal of inherited metabolic disease1999
Disorders of mitochondrial fatty acyl-CoA beta-oxidation.
Review in Journal of inherited metabolic disease, 1999. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 89 papers.
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Who cites it
89 citing papers in PubMed.
- Endocrine and enzymatic shifts during insect diapause: a review of regulatory mechanisms.Frontiers in physiology · 2025Review
- Carnitine palmitoyltransferase 1 facilitates fatty acid oxidation in a non-cell-autonomous manner.Cell reports · 2024Article
- GLYAT suppresses liver cancer and clear cell renal cell carcinoma progression by downregulating ROCK1 expression.Translational cancer research · 2024Article
- Human inborn errors of long-chain fatty acid oxidation show impaired inflammatory responses to TLR4-ligand LPS.FASEB bioAdvances · 2024Article
- Using the C14:1/Medium-Chain Acylcarnitine Ratio Instead of C14:1 to Reduce False-Positive Results for Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency in Newborn Screening in Japan.International journal of neonatal screening · 2024Article
- Key Components of Successful Management of Acute Fatty Liver of Pregnancy: A Case Report and Literature Review.Cureus · 2024Article
- Specifications of the ACMG/AMP guidelines for ACADVL variant interpretation.Molecular genetics and metabolism · 2023Article
- Dysfunctional Lipid Metabolism-The Basis for How Genetic Abnormalities Express the Phenotype of Aggressive Prostate Cancer.Cancers · 2023Review
- Mitochondrial Fatty Acid β-Oxidation Disorders: From Disease to Lipidomic Studies-A Critical Review.International journal of molecular sciences · 2022Review
- MCL-1 is a master regulator of cancer dependency on fatty acid oxidation.Cell reports · 2022Article
- Understanding the impact of long-chain fatty acid oxidation disorders for patients and caregivers.Molecular genetics and metabolism reports · 2022Article
- Article
- Characterization of exonic variants of uncertain significance in very long-chain acyl-CoA dehydrogenase identified through newborn screening.Journal of inherited metabolic disease · 2022Article
- Evidence that Oxidative Disbalance and Mitochondrial Dysfunction are Involved in the Pathophysiology of Fatty Acid Oxidation Disorders.Cellular and molecular neurobiology · 2022Review
- Short-chain L-3-hydroxyacyl-CoA dehydrogenase: A novel vital oncogene or tumor suppressor gene in cancers.Frontiers in pharmacology · 2022Review
- Genetic pathogenesis, diagnosis, and treatment of short-chain 3-hydroxyacyl-coenzyme A dehydrogenase hyperinsulinism.Orphanet journal of rare diseases · 2021Review
- Non-Invasive Analysis of Human Liver Metabolism by Magnetic Resonance Spectroscopy.Metabolites · 2021Review
- Altered Metabolic Flexibility in Inherited Metabolic Diseases of Mitochondrial Fatty Acid Metabolism.International journal of molecular sciences · 2021Review
- Alterations in acylcarnitines, amines, and lipids inform about the mechanism of action of citalopram/escitalopram in major depression.Translational psychiatry · 2021Article
- Diagnosis, genetic characterization and clinical follow up of mitochondrial fatty acid oxidation disorders in the new era of expanded newborn screening: A single centre experience.Molecular genetics and metabolism reports · 2020Article
29 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
In recent years tremendous progress has been made with respect to the enzymology of the mitochondrial fatty acid beta-oxidation machinery and defects therein. Firstly, a number of new mitochondrial beta-oxidation enzymes have been identified, including very-long-chain acyl-CoA dehydrogenase (VLCAD) and mitochondrial trifunctional protein (MTP). Secondly, the introduction of tandem MS for the analysis of plasma acylcarnitines has greatly facilitated the identification of patients with a defect in fatty acid oxidation (FAO). These two developments explain why the number of defined FAO disorders has increased dramatically, making FAO disorders the most rapidly growing group of inborn errors of metabolism. In this review we describe the current state of knowledge of the enzymes involved in the mitochondrial oxidation of straight-chain, branched-chain and (poly)unsaturated fatty acyl-CoAs as well as disorders of fatty acid oxidation. The laboratory diagnosis of these disorders is described, with particular emphasis on the methods used to identify the underlying enzyme defect and the molecular mutations. In addition, a simple flowchart is presented as a guide to the identification of mitochondrial FAO-disorders. Finally, treatment strategies are discussed briefly.
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