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Open Access 01-10-2010 | Fatty Acid Oxidation

The enzymology of mitochondrial fatty acid beta-oxidation and its application to follow-up analysis of positive neonatal screening results

Authors: Ronald J. A. Wanders, Jos P. N. Ruiter, Lodewijk IJlst, Hans R. Waterham, Sander M. Houten

Published in: Journal of Inherited Metabolic Disease | Issue 5/2010

Abstract

Oxidation of fatty acids in mitochondria is a key physiological process in higher eukaryotes including humans. The importance of the mitochondrial beta-oxidation system in humans is exemplified by the existence of a group of genetic diseases in man caused by an impairment in the mitochondrial oxidation of fatty acids. Identification of patients with a defect in mitochondrial beta-oxidation has long remained notoriously difficult, but the introduction of tandem-mass spectrometry in laboratories for genetic metabolic diseases has revolutionalized the field by allowing the rapid and sensitive analysis of acylcarnitines. Equally important is that much progress has been made with respect to the development of specific enzyme assays to identify the enzyme defect in patients subsequently followed by genetic analysis. In this review, we will describe the current state of knowledge in the field of fatty acid oxidation enzymology and its application to the follow-up analysis of positive neonatal screening results.

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Title: The enzymology of mitochondrial fatty acid beta-oxidation and its application to follow-up analysis of positive neonatal screening results
Authors: Ronald J. A. Wanders
Jos P. N. Ruiter
Lodewijk IJlst
Hans R. Waterham
Sander M. Houten
Publication date: 01-10-2010
Publisher: Springer Netherlands
Published in: Journal of Inherited Metabolic Disease / Issue 5/2010
Print ISSN: 0141-8955
Electronic ISSN: 1573-2665
DOI: https://doi.org/10.1007/s10545-010-9104-8

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