Disorders of mitochondrial fatty acyl‐CoA β‐oxidation

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 mi...

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Bibliographic Details
Published in:Journal of inherited metabolic disease 1999-06, Vol.22 (4), p.442-487
Main Authors: Wanders, R. J. A., Vreken, P., Boer, M. E. J., Wijburg, F. A., Van Gennip, A. H., IJlst, L.
Format: Article
Language:English
Subjects:
Acyl Coenzyme A - metabolism
Biological and medical sciences
Errors of metabolism
Fatty Acids - metabolism
Fatty Acids, Unsaturated - metabolism
Humans
Lipid Metabolism, Inborn Errors - diagnosis
Lipid Metabolism, Inborn Errors - enzymology
Lipid Metabolism, Inborn Errors - metabolism
Lipids (lysosomal enzyme disorders, storage diseases)
Medical sciences
Metabolic diseases
Mitochondria - enzymology
Oxidation-Reduction
Prenatal Diagnosis
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Summary: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.
ISSN:0141-8955
1573-2665
DOI:10.1023/A:1005504223140