Journal of Inherited Metabolic Disease

, Volume 22, Issue 4, pp 442–487

Disorders of mitochondrial fatty acyl-CoA β-oxidation

Authors

  • R. J. A. Wanders
    • Departments of Clinical ChemistryAcademic Medical Center, University of Amsterdam
    • PediatricsEmma Children's Hospital
  • P. Vreken
    • Departments of Clinical ChemistryAcademic Medical Center, University of Amsterdam
    • PediatricsEmma Children's Hospital
  • M. E. J. den Boer
    • Departments of Clinical ChemistryAcademic Medical Center, University of Amsterdam
    • PediatricsEmma Children's Hospital
  • F. A. Wijburg
    • Departments of Clinical ChemistryAcademic Medical Center, University of Amsterdam
    • PediatricsEmma Children's Hospital
  • A. H. Van Gennip
    • Departments of Clinical ChemistryAcademic Medical Center, University of Amsterdam
    • PediatricsEmma Children's Hospital
  • L. IJlst
    • Departments of Clinical ChemistryAcademic Medical Center, University of Amsterdam
    • PediatricsEmma Children's Hospital
Article

DOI: 10.1023/A:1005504223140

Cite this article as:
Wanders, R.J.A., Vreken, P., den Boer, M.E.J. et al. J Inherit Metab Dis (1999) 22: 442. doi:10.1023/A:1005504223140

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.

Copyright information

© Kluwer Academic Publishers 1999