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PMID: 20195903 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Review

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

Journal of inherited metabolic disease ·Vol. 33 ·No. 5 ·2010-10-00 ·Pages 469-77

Houten SM, Wanders RJ

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.

MeSH Terms
Animals Disease Models, Animal Energy Metabolism/genetics Fatty Acids/metabolism Genotype Homeostasis Humans Lipid Metabolism, Inborn Errors/enzymology,genetics,physiopathology Mice Mitochondria/enzymology Mitochondrial Diseases/enzymology,genetics,physiopathology Oxidation-Reduction Phenotype
Chemicals
Fatty Acids
Authors & Affiliations
2 authors, click to expand affiliations / ORCID
Houten Sander Michel
Department of Clinical Chemistry, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands. [email protected]
Wanders Ronald J A
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Article Info
Journal
Journal of inherited metabolic disease
Abbr.
J Inherit Metab Dis
ISSN
1573-2665
DOI
10.1007/s10545-010-9061-2
Email
[email protected]
Published
2010-10-00
Epub
2010-00-02
Pages
469-77
Language
English
Region
United States
NLM ID
7910918
PMCID
PMC2950079
Subset
IM
External Links
PubMed source DOI: 10.1007/s10545-010-9061-2 PMC Full Text View journal details
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