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

Open Access 01-10-2010 | Fatty Acid Oxidation

A general introduction to the biochemistry of mitochondrial fatty acid β-oxidation

Authors: Sander Michel Houten, Ronald J. A. Wanders

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

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Abstract

Over the years, the mitochondrial fatty acid β-oxidation (FAO) pathway has been characterised at the biochemical level as well as the molecular biological level. FAO plays a pivotal role in energy homoeostasis, but it competes with glucose as the primary oxidative substrate. The mechanisms behind this so-called glucose–fatty acid cycle operate at the hormonal, transcriptional and biochemical levels. Inherited defects for most of the FAO enzymes have been identified and characterised and are currently included in neonatal screening programmes. Symptoms range from hypoketotic hypoglycaemia to skeletal and cardiac myopathies. The pathophysiology of these diseases is still not completely understood, hampering optimal treatment. Studies of patients and mouse models will contribute to our understanding of the pathogenesis and will ultimately lead to better treatment.
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Metadata
Title
A general introduction to the biochemistry of mitochondrial fatty acid β-oxidation
Authors
Sander Michel Houten
Ronald J. A. Wanders
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/s10545-010-9061-2

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