Disorders of mitochondrial fatty acyl‐CoA β‐oxidation

Wanders, R. J. A.; Vreken, P.; den Boer, M. E. J.; Wijburg, F. A.; Van Gennip, A. H.; IJlst, L.

doi:10.1023/a:1005504223140

Cited by 257Metabolism and Genetic DisordersMitochondrial Function and PathologyNeurological diseases and metabolism

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Disorders of mitochondrial fatty acyl‐CoA β‐oxidation

Wanders, R. J. A., Vreken, P., den Boer, M. E. J., Wijburg, F. A., Van Gennip, A. H., IJlst, L.·1999·Journal of Inherited Metabolic Disease

DOI 10.1023/a:1005504223140

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Abstract

In recent years tremendous progress has been made with respect to the enzymology of the mitochondrial fatty acid β‐oxidation machinery and defects therein. Firstly, a number of new mitochondrial β‐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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Patients with inborn errors of metabolism present with nonketotic hypoglycemia, muscle weakness, elevated long-chain acylcarnitines, and systemic carnitine depletion.
“Patients afflicted with these disorders present with nonketotic hypoglycemia, muscle weakness, pronounced elevations in long chain acylcarnitines and systemic carnitine depletion [91].”
From Intramuscular triacylglycerol and insulin resistance: guilty as charged or wrongly accused? (2010) · cites this paper as [91]

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Authors: Wanders, R. J. A., Vreken, P., den Boer, M. E. J., Wijburg, F. A., Van Gennip, A. H., & IJlst, L.
Affiliations: Amsterdam UMC Location University of Amsterdam (NL)
Departments of Clinical Chemistry Academic Medical Center, University of Amsterdam The Netherlands
Corresponding author: Wanders, R. J. A.
ORCID: Wanders, R. J. A.
Wijburg, F. A.
Venue: Journal of Inherited Metabolic Disease
Publisher: Wiley
Published: 1999-06
Volume: 22
Issue: 4
Pages: 442-487
ISSN: 0141-8955 (ISSN-L)
1573-2665
DOI: 10.1023/a:1005504223140
OpenAlex: W2147457396
Cited by: 257
References: 180
Citations by year: 2026: 1 · 2025: 2 · 2024: 12 · 2023: 4 · 2022: 9 · 2021: 5 · 2020: 5 · 2019: 7 · 2018: 7 · 2017: 7 · 2016: 8 · 2015: 7 · 2014: 12 · 2013: 13 · 2012: 5
FWCI: 1.97
Type: journal article
Language: en
Open access: closed
Licence: onlinelibrary.wiley.com/termsAndConditions#vor (vor)
Locations: Journal of Inherited Metabolic Disease (publishedVersion)
PubMed (publishedVersion)
Pure Amsterdam UMC (publishedVersion)
Data Archiving and Networked Services (DANS) (submittedVersion)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Mitochondrial Function and Pathology
Life Sciences › Neuroscience › Neurology › Neurological diseases and metabolism
Keywords: fatty acid beta-oxidation disorders, inborn errors of metabolism, VLCAD, mitochondrial trifunctional protein, acylcarnitines, tandem mass spectrometry, branched-chain fatty acids, polyunsaturated fatty acids, enzyme defects, molecular diagnosis, treatment options
MeSH terms: Acyl Coenzyme A, Fatty Acids, Fatty Acids, Unsaturated, Humans, Lipid Metabolism, Inborn Errors, Mitochondria, Oxidation-Reduction, Prenatal Diagnosis

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Disorders of mitochondrial fatty acyl‐CoA β‐oxidation

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